Variant report

Variant	esv3341854
Chromosome Location	chr9:97843531-97848029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:245)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 4)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr9:97845425-97846063	A549	lung:	n/a	n/a
2	BCL3	chr9:97847344-97847866	A549	lung:	n/a	n/a
3	BCL3	chr9:97843108-97843876	A549	lung:	n/a	chr9:97843523-97843532
4	CHD2	chr9:97845139-97845162	HepG2	liver:	n/a	n/a
5	CTCF	chr9:97847020-97847170	BJ	skin:	n/a	chr9:97847116-97847125 chr9:97847113-97847131 chr9:97847109-97847122
6	CTCF	chr9:97845599-97845610	GM19239	blood:	n/a	n/a
7	CTCF	chr9:97847000-97847150	AG10803	skin:	n/a	chr9:97847116-97847125 chr9:97847113-97847131 chr9:97847109-97847122
8	CTCF	chr9:97847040-97847190	HEK293	kidney:	n/a	chr9:97847116-97847125 chr9:97847113-97847131 chr9:97847109-97847122
9	CTCF	chr9:97846000-97846020	GM19239	blood:	n/a	n/a
10	CTCF	chr9:97847088-97847139	H1-hESC	embryonic stem cell:	n/a	chr9:97847116-97847125 chr9:97847113-97847131 chr9:97847109-97847122
11	CTCF	chr9:97845973-97845994	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr9:97847040-97847190	AG09319	gingival:	n/a	chr9:97847116-97847125 chr9:97847113-97847131 chr9:97847109-97847122
13	CTCF	chr9:97847422-97847512	H1-hESC	embryonic stem cell:	n/a	n/a
14	ESR1	chr9:97847347-97847707	ECC-1	luminal epithelium:	n/a	n/a
15	JUND	chr9:97845651-97846035	A549	lung:	n/a	n/a
16	MAX	chr9:97845997-97846078	HepG2	liver:	n/a	chr9:97846044-97846053
17	MAX	chr9:97847990-97848685	ECC-1	luminal epithelium:	n/a	chr9:97848522-97848531
18	MAZ	chr9:97845503-97845648	Hela-S3	cervix:	n/a	n/a
19	MYC	chr9:97845844-97845879	HUVEC	blood vessel:	n/a	n/a
20	MYC	chr9:97845898-97845939	MCF-7	breast:	n/a	n/a
21	MYC	chr9:97845674-97845767	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr9:97845582-97846012	MCF-7	breast:	n/a	n/a
23	MYC	chr9:97845685-97845773	MCF-7	breast:	n/a	n/a
24	MYC	chr9:97845782-97846053	MCF-7	breast:	n/a	chr9:97846044-97846053
25	MYC	chr9:97845629-97845637	MCF-7	breast:	n/a	n/a
26	NR2C2	chr9:97845484-97846048	GM12878	blood:	n/a	n/a
27	PAX5	chr9:97845537-97846008	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:97847447-97847578	K562	blood:	n/a	n/a
29	POLR2A	chr9:97843527-97843599	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:97844711-97844971	A549	lung:	n/a	n/a
31	POLR2A	chr9:97845326-97846172	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr9:97845736-97846161	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr9:97843605-97843692	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr9:97847366-97847624	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr9:97845461-97845747	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:97846616-97846768	A549	lung:	n/a	n/a
37	POLR2A	chr9:97845511-97846034	MCF-7	breast:	n/a	n/a
38	POLR2A	chr9:97844810-97844872	HepG2	liver:	n/a	n/a
39	POLR2A	chr9:97847348-97848001	A549	lung:	n/a	n/a
40	POLR2A	chr9:97846608-97846777	A549	lung:	n/a	n/a
41	POLR2A	chr9:97843202-97843830	A549	lung:	n/a	n/a
42	POLR2A	chr9:97845515-97846170	HepG2	liver:	n/a	n/a
43	POLR2A	chr9:97844233-97846110	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr9:97844681-97844772	HepG2	liver:	n/a	n/a
45	POLR2A	chr9:97843781-97843822	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:97843698-97843761	HepG2	liver:	n/a	n/a
47	POLR2A	chr9:97845524-97846020	MCF-7	breast:	n/a	n/a
48	POLR2A	chr9:97844209-97845024	A549	lung:	n/a	n/a
49	POLR2A	chr9:97844185-97845035	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr9:97846796-97847199	HepG2	liver:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97846551-97846601	PrEC	prostate:	n/a
2	chr9:97846551-97846601	PrEC	prostate:	n/a
3	chr9:97846551-97846601	HEEpiC	esophagus:	n/a
4	chr9:97847913-97847963	HCPEpiC	choroid plexus:	n/a
5	chr9:97847913-97847963	IMR90	lung:	fetal
6	chr9:97846551-97846601	K562	blood:	n/a
7	chr9:97844901-97844951	Hela-S3	cervix:	n/a
8	chr9:97847913-97847963	NHBE	bronchial:	n/a
9	chr9:97846048-97846098	GM06990	blood:	n/a
10	chr9:97846551-97846601	SKMC	muscle:	n/a
11	chr9:97846551-97846601	HCF	heart:	n/a
12	chr9:97846551-97846601	NHDF-neo	bronchial:	n/a
13	chr9:97846551-97846601	HepG2	liver:	n/a
14	chr9:97847913-97847963	U87	brain:	n/a
15	chr9:97847913-97847963	MCF10A-Er-Src	breast:	n/a
16	chr9:97846048-97846098	IMR90	lung:	fetal
17	chr9:97846048-97846098	HepG2	liver:	n/a
18	chr9:97846551-97846601	MCF10A-Er-Src	breast:	n/a
19	chr9:97846048-97846098	BJ	skin:	n/a
20	chr9:97846551-97846601	ovcar-3	ovarian:	n/a
21	chr9:97844901-97844951	GM12891	blood:	n/a
22	chr9:97847913-97847963	NHDF-neo	bronchial:	n/a
23	chr9:97846048-97846098	AG09309	skin:	n/a
24	chr9:97846048-97846098	T-47D	breast:	n/a
25	chr9:97846048-97846098	HEEpiC	esophagus:	n/a
26	chr9:97846551-97846601	HNPCEpiC	eye:	n/a
27	chr9:97847913-97847963	HNPCEpiC	eye:	n/a
28	chr9:97847913-97847963	AG09319	gingival:	n/a
29	chr9:97846048-97846098	GM12891	blood:	n/a
30	chr9:97844901-97844951	GM12878	blood:	n/a
31	chr9:97847913-97847963	T-47D	breast:	n/a
32	chr9:97844901-97844951	Jurkat	blood:	n/a
33	chr9:97846048-97846098	HIPEpiC	eye:	n/a
34	chr9:97846048-97846098	HRE	kidney:	n/a
35	chr9:97844901-97844951	Hepatocyte	liver:	n/a
36	chr9:97846551-97846601	SK-N-SH_RA	brain:	n/a
37	chr9:97846048-97846098	HAEpiC	amniotic membrane:	n/a
38	chr9:97846551-97846601	NT2-D1	testis:	n/a
39	chr9:97846551-97846601	T-47D	breast:	n/a
40	chr9:97847913-97847963	PANC-1	pancreas:	n/a
41	chr9:97846551-97846601	AG04450	lung:	fetal
42	chr9:97846048-97846098	AG10803	skin:	n/a
43	chr9:97844901-97844951	AoSMC	blood vessel:	n/a
44	chr9:97844901-97844951	NB4	blood:	n/a
45	chr9:97847913-97847963	H1-hESC	embryonic stem cell:	embryo
46	chr9:97846551-97846601	SAEC	small airway:	n/a
47	chr9:97846551-97846601	HPAEpiC	pulmonary alveolar:	n/a
48	chr9:97844901-97844951	A549	lung:	n/a
49	chr9:97846048-97846098	MCF-7	breast:	n/a
50	chr9:97847913-97847963	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97842032..97844284-chr9:97846678..97849140,2	K562	blood:
2	chr9:97840496..97842438-chr9:97844995..97846708,2	MCF-7	breast:
3	chr9:97845277..97847054-chr9:97867436..97869989,2	K562	blood:
4	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:
5	chr9:97844149..97846722-chr9:97853802..97855942,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIATL1-20	chr9:97847502-97848370	NONHSAT133346

miRNA name	Chromosome Location	mirBase accession
hsa-miR-23b-5p	chr9:97847509-97847530	MIMAT0004587
hsa-miR-27b-5p	chr9:97847745-97847766	MIMAT0004588
hsa-miR-27b-3p	chr9:97847787-97847807	MIMAT0000419
hsa-miR-23b-3p	chr9:97847547-97847567	MIMAT0000418

No data

Variant related genes	Relation type
MIR23B	TF binding region
MIR27B	TF binding region
MIR23B	CpG island
MIR27B	CpG island
ENSG00000207864	chromatin interactions
ENSG00000207563	chromatin interactions
ENSG00000148120	chromatin interactions
ENSG00000207617	chromatin interactions
PRPF6	Mature miRNA region
GTF2I	Mature miRNA region
DPF1	Mature miRNA region
IMPDH2	Mature miRNA region
ATP5A1	Mature miRNA region
NOTCH2	Mature miRNA region
RMND5A	Mature miRNA region
DDX27	Mature miRNA region
PI4KB	Mature miRNA region
MDH2	Mature miRNA region
RPS24	Mature miRNA region
ZMYND11	Mature miRNA region
RPTOR	Mature miRNA region
EMC1	Mature miRNA region
CPSF3L	Mature miRNA region
CCND3	Mature miRNA region
CCNT1	Mature miRNA region
TBC1D9	Mature miRNA region
ARFIP1	Mature miRNA region
C8orf33	Mature miRNA region
ITFG1	Mature miRNA region
EEF1A1	Mature miRNA region
CAP1	Mature miRNA region
COPA	Mature miRNA region
E2F4	Mature miRNA region
STAT5B	Mature miRNA region
CRKL	Mature miRNA region
NMT1	Mature miRNA region
RGMB	Mature miRNA region
CDH2	Mature miRNA region
LMF2	Mature miRNA region
ABCF1	Mature miRNA region
RB1	Mature miRNA region
AP4B1	Mature miRNA region
WWP2	Mature miRNA region
PRR14L	Mature miRNA region
FASN	Mature miRNA region
INPPL1	Mature miRNA region
OPRM1	Mature miRNA region
XPO1	Mature miRNA region
EIF4B	Mature miRNA region
CUL4A	Mature miRNA region
EDNRA	Mature miRNA region
BBS12	Mature miRNA region
CEP192	Mature miRNA region
RAF1	Mature miRNA region
MET	Mature miRNA region
PCMTD2	Mature miRNA region
DDX17	Mature miRNA region
CYP1B1	Mature miRNA region
LAPTM4B	Mature miRNA region
PDCD6IP	Mature miRNA region
UBA1	Mature miRNA region
PSMD14	Mature miRNA region
DHX57	Mature miRNA region
BCL2L1	Mature miRNA region
PRPF8	Mature miRNA region
PRODH	Mature miRNA region
BRAT1	Mature miRNA region
CDCA8	Mature miRNA region
KLHL2	Mature miRNA region
SOS1	Mature miRNA region
PLAU	Mature miRNA region
TAB3	Mature miRNA region
DIAPH1	Mature miRNA region
MAP4	Mature miRNA region
ST14	Mature miRNA region
HIST2H3A	Mature miRNA region
EP300	Mature miRNA region
RAB3B	Mature miRNA region
RBPMS2	Mature miRNA region
POGZ	Mature miRNA region
PTEN	Mature miRNA region
UBR3	Mature miRNA region
MSH6	Mature miRNA region
VDR	Mature miRNA region
TCF25	Mature miRNA region
SUPV3L1	Mature miRNA region
CCDC88C	Mature miRNA region
EWSR1	Mature miRNA region
ACTN4	Mature miRNA region
GANAB	Mature miRNA region
CALM1	Mature miRNA region
SPEN	Mature miRNA region
PNN	Mature miRNA region
ZIC5	Mature miRNA region
TRAPPC2P1	Mature miRNA region
PAX3	Mature miRNA region
PAX7	Mature miRNA region
ATN1	Mature miRNA region
HIST1H1C	Mature miRNA region
NPM1	Mature miRNA region
LRIG3	Mature miRNA region
ANKRD52	Mature miRNA region
CPEB3	Mature miRNA region
LY75-CD302	Mature miRNA region
GNA12	Mature miRNA region
RPN2	Mature miRNA region
PTK2B	Mature miRNA region
ZNF264	Mature miRNA region
SRCAP	Mature miRNA region
MCFD2	Mature miRNA region
ILF2	Mature miRNA region
ATP7B	Mature miRNA region
CHUK	Mature miRNA region
CLUAP1	Mature miRNA region
UTP14A	Mature miRNA region
DONSON	Mature miRNA region
SOCS6	Mature miRNA region
BCS1L	Mature miRNA region
DGCR2	Mature miRNA region
SEC16A	Mature miRNA region
AKAP11	Mature miRNA region
ALDOA	Mature miRNA region
KANSL1	Mature miRNA region
SUPT7L	Mature miRNA region
PRR3	Mature miRNA region
SPAG9	Mature miRNA region
GNS	Mature miRNA region
CUL4B	Mature miRNA region
SLC6A15	Mature miRNA region
HIF1AN	Mature miRNA region
FLNA	Mature miRNA region
CYP3A4	Mature miRNA region
TAB2	Mature miRNA region
HNRNPU	Mature miRNA region
TMEM19	Mature miRNA region
CLTA	Mature miRNA region
HIST4H4	Mature miRNA region
RAPGEF1	Mature miRNA region
ATP1A1	Mature miRNA region
EML1	Mature miRNA region
NHP2L1	Mature miRNA region
SSRP1	Mature miRNA region
MMP13	Mature miRNA region
CSDE1	Mature miRNA region
MT-CO1	Mature miRNA region
CUL1	Mature miRNA region
ZC3H11A	Mature miRNA region
RPS27A	Mature miRNA region
CMTM4	Mature miRNA region
CATSPERB	Mature miRNA region
MLLT6	Mature miRNA region
KDM1A	Mature miRNA region
BCL7B	Mature miRNA region
CDK2	Mature miRNA region
KHDRBS1	Mature miRNA region
UNC45A	Mature miRNA region
NOTCH1	Mature miRNA region
HK1	Mature miRNA region
ZNFX1	Mature miRNA region
GALNT11	Mature miRNA region
ZADH2	Mature miRNA region
HNRNPA2B1	Mature miRNA region
MED13L	Mature miRNA region
EHMT2	Mature miRNA region
KIAA1211	Mature miRNA region
GHITM	Mature miRNA region
PPARGC1B	Mature miRNA region
HNRNPUL1	Mature miRNA region
PPP1CB	Mature miRNA region
LCOR	Mature miRNA region
JAK1	Mature miRNA region
BLOC1S2	Mature miRNA region
BAZ2A	Mature miRNA region
EYA4	Mature miRNA region
TCP1	Mature miRNA region
ILVBL	Mature miRNA region
ABCC1	Mature miRNA region
THOC3	Mature miRNA region
HERC3	Mature miRNA region
MPV17	Mature miRNA region
ATF7IP	Mature miRNA region
SNRPC	Mature miRNA region
ITPR3	Mature miRNA region
KIAA1279	Mature miRNA region
SLC16A1	Mature miRNA region
DMTN	Mature miRNA region
ANKRD2	Mature miRNA region
CTSB	Mature miRNA region
HNRNPF	Mature miRNA region
ADORA2B	Mature miRNA region
PPM1A	Mature miRNA region
AMOTL1	Mature miRNA region
STK11IP	Mature miRNA region
FAM168B	Mature miRNA region
VHL	Mature miRNA region
MAPK9	Mature miRNA region
NDUFS6	Mature miRNA region
UQCRC2	Mature miRNA region
DHX33	Mature miRNA region
CCT7	Mature miRNA region
SYDE2	Mature miRNA region
SLC9A6	Mature miRNA region
CEPT1	Mature miRNA region
HNRNPK	Mature miRNA region
GNB2L1	Mature miRNA region
CDC73	Mature miRNA region
ECH1	Mature miRNA region
PANK2	Mature miRNA region
SLC43A1	Mature miRNA region
UBXN1	Mature miRNA region
HNRNPL	Mature miRNA region
SORCS2	Mature miRNA region
G3BP1	Mature miRNA region
ACAT1	Mature miRNA region
C11orf68	Mature miRNA region
ATXN10	Mature miRNA region
SPTY2D1	Mature miRNA region
DDX47	Mature miRNA region
GAPDH	Mature miRNA region
RRAGD	Mature miRNA region
RAD51	Mature miRNA region
TPCN1	Mature miRNA region
PRDX1	Mature miRNA region
PPARG	Mature miRNA region
ZMYM2	Mature miRNA region
KHSRP	Mature miRNA region
CCNB2	Mature miRNA region
TNRC6B	Mature miRNA region
MTMR3	Mature miRNA region
DNMBP	Mature miRNA region
USP31	Mature miRNA region
GNB4	Mature miRNA region
SRC	Mature miRNA region
LBR	Mature miRNA region
PAXBP1	Mature miRNA region
SLC25A5	Mature miRNA region
GJA1	Mature miRNA region
PLOD1	Mature miRNA region
DNAJC5	Mature miRNA region
ABCC4	Mature miRNA region
TMTC1	Mature miRNA region
MED4	Mature miRNA region
CYB561D1	Mature miRNA region
SNX19	Mature miRNA region
KIF1B	Mature miRNA region
PHF10	Mature miRNA region
E2F1	Mature miRNA region
CPSF7	Mature miRNA region
WDR54	Mature miRNA region
RPS15A	Mature miRNA region
RAB5B	Mature miRNA region
RPL22	Mature miRNA region
NSD1	Mature miRNA region
SLC5A6	Mature miRNA region
DUSP5	Mature miRNA region
RPL19	Mature miRNA region
C1orf74	Mature miRNA region
TSR1	Mature miRNA region
PRAP1	Mature miRNA region
CEP104	Mature miRNA region
ZNF45	Mature miRNA region
INPP4A	Mature miRNA region
PSAP	Mature miRNA region
EIF4A1	Mature miRNA region
CDC20	Mature miRNA region
ANKRD17	Mature miRNA region
AARS2	Mature miRNA region
SBF1	Mature miRNA region
NPEPPS	Mature miRNA region
LASP1	Mature miRNA region

Extended variants
information (count: 227 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572431697	chr9:97843544-97843545	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs190309901	chr9:97843586-97843587	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs73654508	chr9:97843598-97843599	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113384064	chr9:97843646-97843647	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs543609977	chr9:97843655-97843656	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs565433811	chr9:97843669-97843670	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs181759123	chr9:97843695-97843696	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs532707891	chr9:97843709-97843710	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs548039844	chr9:97843714-97843715	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566229252	chr9:97843724-97843725	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs549626065	chr9:97843813-97843814	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs370058806	chr9:97843861-97843862	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs529758140	chr9:97843890-97843891	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs548207536	chr9:97843895-97843896	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs569773935	chr9:97843924-97843925	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs537103679	chr9:97843932-97843933	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs558802227	chr9:97843936-97843937	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs567878744	chr9:97844005-97844006	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs534497735	chr9:97844094-97844095	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs137876223	chr9:97844155-97844156	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs574633455	chr9:97844170-97844171	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs536293399	chr9:97844185-97844186	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs375015256	chr9:97844271-97844272	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs535177866	chr9:97844326-97844327	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs554494906	chr9:97844334-97844335	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs374618645	chr9:97844381-97844382	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs117430431	chr9:97844382-97844383	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs73654509	chr9:97844398-97844399	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565357710	chr9:97844443-97844444	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs577394557	chr9:97844501-97844502	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs10491560	chr9:97844513-97844514	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539530555	chr9:97844611-97844612	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs557920598	chr9:97844612-97844613	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs530372715	chr9:97844636-97844637	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs72752313	chr9:97844680-97844681	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs190482002	chr9:97844719-97844720	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs530645486	chr9:97844722-97844723	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs552278494	chr9:97844753-97844754	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs142499823	chr9:97844765-97844766	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs181292272	chr9:97844789-97844790	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs546475004	chr9:97844790-97844791	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs115506626	chr9:97844793-97844794	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs114582875	chr9:97844798-97844799	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs554556159	chr9:97844802-97844803	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs575998221	chr9:97844814-97844815	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs368603519	chr9:97844825-97844826	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs371347450	chr9:97844831-97844832	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs41281194	chr9:97844853-97844854	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs141717477	chr9:97844861-97844862	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs200458500	chr9:97844876-97844877	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97820000-97854200	Weak transcription	Fetal Brain Male	brain
3	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:97822800-97845400	Weak transcription	Primary B cells from cord blood	blood
5	chr9:97823600-97845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:97824800-97844600	Weak transcription	Fetal Thymus	thymus
7	chr9:97825400-97854400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr9:97825800-97852600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:97826200-97847400	Weak transcription	HUVEC	blood vessel
10	chr9:97826400-97844200	Weak transcription	GM12878-XiMat	blood
11	chr9:97830600-97844800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:97835400-97845200	Weak transcription	HMEC	breast
13	chr9:97836800-97844600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:97838000-97871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr9:97838600-97844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:97838800-97844400	Genic enhancers	Fetal Stomach	stomach
17	chr9:97839200-97843600	Genic enhancers	Ovary	ovary
18	chr9:97839200-97844600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:97839200-97845800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:97839600-97845800	Genic enhancers	HSMM	muscle
21	chr9:97839600-97850400	Strong transcription	HepG2	liver
22	chr9:97839600-97851000	Genic enhancers	A549	lung
23	chr9:97840000-97850000	Strong transcription	Osteobl	bone
24	chr9:97840200-97846000	Genic enhancers	Left Ventricle	heart
25	chr9:97840800-97851800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:97841000-97845000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:97841200-97844200	Weak transcription	Brain Germinal Matrix	brain
28	chr9:97841200-97845400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:97841200-97845600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:97841200-97846200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:97841200-97849800	Strong transcription	NH-A	brain
32	chr9:97841200-97864400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:97841400-97844200	Weak transcription	Right Atrium	heart
34	chr9:97841400-97844800	Strong transcription	Liver	Liver
35	chr9:97841400-97845200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:97841400-97845400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97841400-97853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:97841600-97845400	Weak transcription	Small Intestine	intestine
39	chr9:97841600-97847000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:97841600-97849200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr9:97841600-97850000	Strong transcription	NHLF	lung
42	chr9:97841600-97855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:97841800-97843800	Strong transcription	HSMMtube	muscle
44	chr9:97841800-97851600	Strong transcription	Fetal Intestine Small	intestine
45	chr9:97841800-97853800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:97841800-97854000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr9:97842000-97843600	Weak transcription	Stomach Mucosa	stomach
48	chr9:97842000-97845400	Weak transcription	Psoas Muscle	Psoas
49	chr9:97842200-97844600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr9:97842200-97847200	Weak transcription	Dnd41	blood

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