Variant report

Variant	esv3405994
Chromosome Location	chr21:17895130-17912420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:16)
Mature miRNA
region (count: 4)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:17898556-17898838	HepG2	liver:	n/a	chr21:17898689-17898700
2	CEBPB	chr21:17894933-17895147	HepG2	liver:	n/a	n/a
3	CEBPB	chr21:17898682-17898759	A549	lung:	n/a	chr21:17898689-17898700
4	CEBPB	chr21:17905357-17905924	A549	lung:	n/a	chr21:17905402-17905415 chr21:17905402-17905413 chr21:17905402-17905413 chr21:17905402-17905415 chr21:17905402-17905415
5	CEBPB	chr21:17905253-17905549	Hela-S3	cervix:	n/a	chr21:17905402-17905415 chr21:17905402-17905413 chr21:17905402-17905413 chr21:17905402-17905415 chr21:17905402-17905415
6	CEBPB	chr21:17894822-17895206	A549	lung:	n/a	n/a
7	CEBPB	chr21:17907319-17907711	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr21:17907378-17907589	IMR90	lung:	n/a	n/a
9	CEBPB	chr21:17894840-17895226	MCF-7	breast:	n/a	n/a
10	CEBPB	chr21:17907381-17907641	A549	lung:	n/a	n/a
11	CEBPB	chr21:17906671-17906844	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr21:17908955-17909630	Hela-S3	cervix:	n/a	chr21:17909104-17909117 chr21:17909106-17909117 chr21:17909106-17909117
13	CEBPB	chr21:17906059-17907135	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr21:17898631-17898773	K562	blood:	n/a	chr21:17898689-17898700
15	CEBPB	chr21:17894794-17895276	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr21:17894788-17895237	IMR90	lung:	n/a	n/a
17	CEBPB	chr21:17894850-17895135	A549	lung:	n/a	n/a
18	CHD2	chr21:17909423-17909426	GM12878	blood:	n/a	n/a
19	CHD2	chr21:17907329-17907790	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr21:17907253-17907756	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr21:17895060-17895210	HRE	kidney:	n/a	n/a
22	CTCF	chr21:17895040-17895190	AG04450	lung:	n/a	n/a
23	CTCF	chr21:17895160-17895310	AG09319	gingival:	n/a	n/a
24	CTCF	chr21:17907020-17907170	BE2_C	brain:	n/a	chr21:17907143-17907161 chr21:17907146-17907159 chr21:17907146-17907155
25	CTCF	chr21:17895168-17895252	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr21:17895240-17895390	RPTEC	kidney:	n/a	n/a
27	CTCF	chr21:17907100-17907250	HBMEC	blood vessel:	n/a	chr21:17907143-17907161 chr21:17907146-17907159 chr21:17907146-17907155
28	CTCF	chr21:17895019-17895351	IMR90	lung:	n/a	n/a
29	CTCF	chr21:17907120-17907270	BE2_C	brain:	n/a	chr21:17907143-17907161 chr21:17907146-17907159 chr21:17907146-17907155
30	E2F4	chr21:17908817-17909017	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr21:17907338-17907625	Hela-S3	cervix:	n/a	n/a
32	EP300	chr21:17906572-17907077	SK-N-SH_RA	brain:	n/a	chr21:17906628-17906642 chr21:17907025-17907039
33	EP300	chr21:17906949-17907085	GM12878	blood:	n/a	chr21:17907025-17907039
34	EP300	chr21:17894757-17895308	T-47D	breast:	n/a	chr21:17895083-17895091
35	EP300	chr21:17906515-17907848	ECC-1	luminal epithelium:	n/a	chr21:17906628-17906642 chr21:17907025-17907039 chr21:17907205-17907219
36	EP300	chr21:17908978-17909639	Hela-S3	cervix:	n/a	chr21:17909366-17909380 chr21:17909105-17909119
37	EP300	chr21:17906528-17907060	SK-N-SH_RA	brain:	n/a	chr21:17906628-17906642 chr21:17907025-17907039
38	FOS	chr21:17905191-17905495	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr21:17905150-17905518	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr21:17902997-17903402	HUVEC	blood vessel:	n/a	chr21:17903183-17903194
41	FOS	chr21:17905165-17905494	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr21:17905191-17905450	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA1	chr21:17894838-17895297	T-47D	breast:	n/a	n/a
44	FOXA1	chr21:17905962-17906207	T-47D	breast:	n/a	n/a
45	FOXA1	chr21:17894923-17895211	T-47D	breast:	n/a	n/a
46	FOXA2	chr21:17905999-17906375	A549	lung:	n/a	n/a
47	FOXA2	chr21:17905876-17906309	A549	lung:	n/a	n/a
48	FOXM1	chr21:17906639-17907753	ECC-1	luminal epithelium:	n/a	n/a
49	FOXM1	chr21:17909187-17910134	ECC-1	luminal epithelium:	n/a	n/a
50	FOXM1	chr21:17905669-17906421	ECC-1	luminal epithelium:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:17911688-17911738	Jurkat	blood:	n/a
2	chr21:17911433-17911483	PFSK-1	brain:	n/a
3	chr21:17911066-17911116	NH-A	brain:	n/a
4	chr21:17911066-17911116	PFSK-1	brain:	n/a
5	chr21:17911433-17911483	GM12892	blood:	n/a
6	chr21:17911959-17912009	PFSK-1	brain:	n/a
7	chr21:17911433-17911483	HAEpiC	amniotic membrane:	n/a
8	chr21:17911688-17911738	BE2_C	brain:	n/a
9	chr21:17911433-17911483	ProgFib	skin:	n/a
10	chr21:17911959-17912009	PANC-1	pancreas:	n/a
11	chr21:17911688-17911738	GM12891	blood:	n/a
12	chr21:17911066-17911116	SKMC	muscle:	n/a
13	chr21:17911959-17912009	H1-hESC	embryonic stem cell:	embryo
14	chr21:17911066-17911116	U87	brain:	n/a
15	chr21:17911688-17911738	MCF-7	breast:	n/a
16	chr21:17911688-17911738	ProgFib	skin:	n/a
17	chr21:17911688-17911738	K562	blood:	n/a
18	chr21:17911959-17912009	LNCaP	prostate:	n/a
19	chr21:17911688-17911738	CMK	blood:	n/a
20	chr21:17911066-17911116	AG04449	skin:	fetal
21	chr21:17911066-17911116	CMK	blood:	n/a
22	chr21:17911688-17911738	Hela-S3	cervix:	n/a
23	chr21:17911959-17912009	Jurkat	blood:	n/a
24	chr21:17911959-17912009	GM06990	blood:	n/a
25	chr21:17911066-17911116	AG09309	skin:	n/a
26	chr21:17911688-17911738	SK-N-SH_RA	brain:	n/a
27	chr21:17911688-17911738	HNPCEpiC	eye:	n/a
28	chr21:17911688-17911738	BJ	skin:	n/a
29	chr21:17911959-17912009	GM19239	blood:	n/a
30	chr21:17911066-17911116	Caco-2	colon:	n/a
31	chr21:17911433-17911483	MCF10A-Er-Src	breast:	n/a
32	chr21:17911959-17912009	Hela-S3	cervix:	n/a
33	chr21:17911433-17911483	HRCEpiC	kidney:	n/a
34	chr21:17911433-17911483	T-47D	breast:	n/a
35	chr21:17911959-17912009	CMK	blood:	n/a
36	chr21:17911688-17911738	HIPEpiC	eye:	n/a
37	chr21:17911066-17911116	H1-hESC	embryonic stem cell:	embryo
38	chr21:17911959-17912009	SAEC	small airway:	n/a
39	chr21:17911433-17911483	HUVEC	blood vessel:	n/a
40	chr21:17911433-17911483	HepG2	liver:	n/a
41	chr21:17911959-17912009	NB4	blood:	n/a
42	chr21:17911433-17911483	NT2-D1	testis:	n/a
43	chr21:17911688-17911738	HMEC	breast:	n/a
44	chr21:17911959-17912009	IMR90	lung:	fetal
45	chr21:17911433-17911483	ovcar-3	ovarian:	n/a
46	chr21:17911688-17911738	HEK293	kidney:	embryo
47	chr21:17911066-17911116	IMR90	lung:	fetal
48	chr21:17911066-17911116	MCF10A-Er-Src	breast:	n/a
49	chr21:17911433-17911483	Hela-S3	cervix:	n/a
50	chr21:17911433-17911483	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17903700..17906085-chr21:17908034..17909928,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6
2	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
3	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
4	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6
5	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6
6	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6
7	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
8	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
9	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
10	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386
11	lnc-USP25-2	chr21:17909601-17909759	ENSG00000215386
12	lnc-USP25-2	chr21:17909699-17909759	NONHSAT081228
13	lnc-USP25-2	chr21:17909699-17909765	NONHSAT081235
14	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6
15	lnc-USP25-2	chr21:17909663-17909759	ENSG00000215386.6
16	lnc-USP25-2	chr21:17909699-17909759	ENSG00000215386.6

miRNA name	Chromosome Location	mirBase accession
hsa-let-7c-3p	chr21:17912203-17912224	MIMAT0026472
hsa-let-7c-5p	chr21:17912158-17912179	MIMAT0000064
hsa-miR-99a-3p	chr21:17911458-17911479	MIMAT0004511
hsa-miR-99a-5p	chr21:17911421-17911442	MIMAT0000097

No data

Variant related genes	Relation type
MIR99A	TF binding region
MIRLET7C	TF binding region
LINC00478	TF binding region
MIR99A	CpG island
MIRLET7C	CpG island
LINC00478	CpG island
ENSG00000215386	chromatin interactions
DCTN5	Mature miRNA region
DUSP7	Mature miRNA region
TMEM165	Mature miRNA region
APEX1	Mature miRNA region
MEF2C	Mature miRNA region
TUBG1	Mature miRNA region
PAK4	Mature miRNA region
FANCI	Mature miRNA region
SMARCD1	Mature miRNA region
P2RY11	Mature miRNA region
DCAF7	Mature miRNA region
RFWD3	Mature miRNA region
PLSCR1	Mature miRNA region
PPM1A	Mature miRNA region
MYO9A	Mature miRNA region
CSTF2T	Mature miRNA region
UBA52	Mature miRNA region
BCL2L1	Mature miRNA region
CCNC	Mature miRNA region
CIRH1A	Mature miRNA region
TMEM209	Mature miRNA region
COPS6	Mature miRNA region
IRF2BP2	Mature miRNA region
NDUFA2	Mature miRNA region
CEP170B	Mature miRNA region
MARK2	Mature miRNA region
FUT10	Mature miRNA region
COL4A1	Mature miRNA region
NME4	Mature miRNA region
LECT2	Mature miRNA region
NRAS	Mature miRNA region
DNAJC6	Mature miRNA region
TAF5	Mature miRNA region
CDC42BPA	Mature miRNA region
CBL	Mature miRNA region
RAVER2	Mature miRNA region
DHX9	Mature miRNA region
GPS1	Mature miRNA region
BRD2	Mature miRNA region
ANKRD17	Mature miRNA region
SKI	Mature miRNA region
GXYLT1	Mature miRNA region
GTF2H2D	Mature miRNA region
MT-CO2	Mature miRNA region
DOT1L	Mature miRNA region
RB1	Mature miRNA region
TRRAP	Mature miRNA region
RPS26	Mature miRNA region
DDX42	Mature miRNA region
WDR61	Mature miRNA region
SNRNP200	Mature miRNA region
RCN2	Mature miRNA region
CBX6	Mature miRNA region
SNUPN	Mature miRNA region
FLNB	Mature miRNA region
IP6K1	Mature miRNA region
TNRC6B	Mature miRNA region
ITM2B	Mature miRNA region
ATP1A1	Mature miRNA region
DDX3X	Mature miRNA region
RALGAPA2	Mature miRNA region
PSMA2	Mature miRNA region
LTA4H	Mature miRNA region
ZNF526	Mature miRNA region
TUT1	Mature miRNA region
TAF5L	Mature miRNA region
QKI	Mature miRNA region
MT-CO3	Mature miRNA region
MT-ND4L	Mature miRNA region
NDE1	Mature miRNA region
UQCR10	Mature miRNA region
IGF1R	Mature miRNA region
MESDC1	Mature miRNA region
DHCR24	Mature miRNA region
RPL3	Mature miRNA region
GPR126	Mature miRNA region
RAB5B	Mature miRNA region
GARS	Mature miRNA region
MT-ND5	Mature miRNA region
LMAN2	Mature miRNA region
CERS1	Mature miRNA region
GLUD1	Mature miRNA region
RAB34	Mature miRNA region
SLC12A2	Mature miRNA region
SH3D19	Mature miRNA region
ARL6IP1	Mature miRNA region
NPTX1	Mature miRNA region
CDK6	Mature miRNA region
ATP5E	Mature miRNA region
EIF3A	Mature miRNA region
GSK3A	Mature miRNA region
PRAF2	Mature miRNA region
TPPP3	Mature miRNA region
DLD	Mature miRNA region
COPS8	Mature miRNA region
SERPINE1	Mature miRNA region
CUL2	Mature miRNA region
MCM8	Mature miRNA region
IPO7	Mature miRNA region
DDX46	Mature miRNA region
MYL2	Mature miRNA region
RPS24	Mature miRNA region
RPL36A	Mature miRNA region
CHST6	Mature miRNA region
NUDT21	Mature miRNA region
RAD51C	Mature miRNA region
PPP2R5E	Mature miRNA region
METTL25	Mature miRNA region
STEAP4	Mature miRNA region
JPH1	Mature miRNA region
PUM1	Mature miRNA region
TRIB1	Mature miRNA region
ADO	Mature miRNA region
KIF1B	Mature miRNA region
ITGA10	Mature miRNA region
SEC13	Mature miRNA region
RPS15	Mature miRNA region
FGFR3	Mature miRNA region
PSMB2	Mature miRNA region
GTF2I	Mature miRNA region
MT-ND3	Mature miRNA region
DDHD1	Mature miRNA region
ACTB	Mature miRNA region
TAZ	Mature miRNA region
CACNG8	Mature miRNA region
AKAP2	Mature miRNA region
MAPK6	Mature miRNA region
NPM3	Mature miRNA region
N4BP2	Mature miRNA region
PTGES2	Mature miRNA region
CCNG1	Mature miRNA region
EYA3	Mature miRNA region
RUNDC3B	Mature miRNA region
ZNF367	Mature miRNA region
SGPP2	Mature miRNA region
BSDC1	Mature miRNA region
SRPK1	Mature miRNA region
GORASP2	Mature miRNA region
R3HDM2	Mature miRNA region
SAFB	Mature miRNA region
PCGF3	Mature miRNA region
FZD8	Mature miRNA region
MRPS33	Mature miRNA region
FOXO3	Mature miRNA region
CCNB2	Mature miRNA region
HUWE1	Mature miRNA region
FOSL2	Mature miRNA region
DNAJC16	Mature miRNA region
SRCAP	Mature miRNA region
NFU1	Mature miRNA region
CCDC6	Mature miRNA region
RAB10	Mature miRNA region
EIF3C	Mature miRNA region
GTF2H1	Mature miRNA region
UBB	Mature miRNA region
BCOR	Mature miRNA region
CLTC	Mature miRNA region
EIF5A	Mature miRNA region
ZNF614	Mature miRNA region
AGO2	Mature miRNA region
PPAN	Mature miRNA region
GNAL	Mature miRNA region
BAZ1B	Mature miRNA region
TRIM71	Mature miRNA region
BRD7	Mature miRNA region
TYMS	Mature miRNA region
POLR2E	Mature miRNA region
DOCK11	Mature miRNA region
POGK	Mature miRNA region
FAM103A1	Mature miRNA region
TTC38	Mature miRNA region
METTL23	Mature miRNA region
HMGA2	Mature miRNA region
RARS	Mature miRNA region
KIAA0141	Mature miRNA region
MEF2D	Mature miRNA region
TMEM184B	Mature miRNA region
SYNJ2BP	Mature miRNA region
DDX18	Mature miRNA region
MON1B	Mature miRNA region
PSMG2	Mature miRNA region
MKRN1	Mature miRNA region
NUPL1	Mature miRNA region
CAPNS1	Mature miRNA region
RPS13	Mature miRNA region
ORMDL1	Mature miRNA region
SF3B4	Mature miRNA region
PEX6	Mature miRNA region
UBA2	Mature miRNA region
VWA9	Mature miRNA region
ZNF581	Mature miRNA region
MT-ND2	Mature miRNA region
MT-CO1	Mature miRNA region
COPS3	Mature miRNA region
RPL18A	Mature miRNA region
LDHA	Mature miRNA region
WHAMM	Mature miRNA region
GOLGA3	Mature miRNA region
CHD1	Mature miRNA region
ADCY9	Mature miRNA region
N6AMT1	Mature miRNA region
EWSR1	Mature miRNA region
C9orf40	Mature miRNA region
MT-ND4	Mature miRNA region
ORC5	Mature miRNA region
MYC	Mature miRNA region
MPL	Mature miRNA region
PTK2	Mature miRNA region
GTF3C1	Mature miRNA region
JARID2	Mature miRNA region
ATP2A2	Mature miRNA region
FAM171B	Mature miRNA region
SNW1	Mature miRNA region
RPS6	Mature miRNA region
SBDS	Mature miRNA region
RPS4Y1	Mature miRNA region
MT-ATP6	Mature miRNA region
COQ2	Mature miRNA region
RAPGEFL1	Mature miRNA region
SMARCC1	Mature miRNA region
WBP11	Mature miRNA region
KRTAP19-1	Mature miRNA region
AGO1	Mature miRNA region
MED12	Mature miRNA region
BPTF	Mature miRNA region
RASAL2	Mature miRNA region
BCL2	Mature miRNA region
MBTPS1	Mature miRNA region
GDE1	Mature miRNA region
SLC10A3	Mature miRNA region
CACHD1	Mature miRNA region
ACTN4	Mature miRNA region
PTP4A2	Mature miRNA region
NFE2L1	Mature miRNA region
FKBP10	Mature miRNA region
HADHB	Mature miRNA region
WDR3	Mature miRNA region
CBWD3	Mature miRNA region
MT-ND1	Mature miRNA region
DICER1	Mature miRNA region
AIDA	Mature miRNA region
AP2B1	Mature miRNA region
CTC1	Mature miRNA region
CCNF	Mature miRNA region
ARF5	Mature miRNA region
GATAD2B	Mature miRNA region
METAP2	Mature miRNA region
SIRT1	Mature miRNA region
PCF11	Mature miRNA region
NOTCH2	Mature miRNA region
RNF187	Mature miRNA region
LRIG3	Mature miRNA region
ARMC8	Mature miRNA region
SLC35A4	Mature miRNA region
PRPF8	Mature miRNA region
PRRC2A	Mature miRNA region
RYR2	Mature miRNA region
SRSF10	Mature miRNA region
FOXRED2	Mature miRNA region
RPL37A	Mature miRNA region
CUL3	Mature miRNA region
TOMM22	Mature miRNA region
RPL7L1	Mature miRNA region
E4F1	Mature miRNA region
CDC25A	Mature miRNA region
C5orf24	Mature miRNA region
VPS45	Mature miRNA region
TGFBR1	Mature miRNA region
SPIRE1	Mature miRNA region
SUDS3	Mature miRNA region
DNAJA3	Mature miRNA region
ZBTB4	Mature miRNA region
SLC25A1	Mature miRNA region
CNOT3	Mature miRNA region
SLK	Mature miRNA region
SALL2	Mature miRNA region
CSNK2A1	Mature miRNA region
LAMTOR1	Mature miRNA region
MTOR	Mature miRNA region
ACVR1B	Mature miRNA region
SUPT16H	Mature miRNA region
EXTL3	Mature miRNA region
TRIM33	miRNA target sites
SMAD5	miRNA target sites
NDUFB5	miRNA target sites
PRKRIR	miRNA target sites
PIGN	miRNA target sites
CCND2	miRNA target sites
NCOA3	miRNA target sites

Extended variants
information (count: 648 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181980824	chr21:17895165-17895166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563708162	chr21:17895183-17895184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532354035	chr21:17895209-17895210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552658805	chr21:17895223-17895224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187242141	chr21:17895245-17895246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531620084	chr21:17895329-17895330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190916345	chr21:17895376-17895377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113576807	chr21:17895399-17895400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8134294	chr21:17895441-17895442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs8133774	chr21:17895460-17895461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576776828	chr21:17895500-17895501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182738422	chr21:17895515-17895516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552536019	chr21:17895600-17895601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186514075	chr21:17895601-17895602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367739006	chr21:17895627-17895628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9974670	chr21:17895638-17895639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527449318	chr21:17895660-17895661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376844613	chr21:17895662-17895663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142639260	chr21:17895665-17895666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150588191	chr21:17895681-17895682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117117152	chr21:17895696-17895697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73367470	chr21:17895751-17895752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566577516	chr21:17895754-17895755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532551506	chr21:17895768-17895769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535525316	chr21:17895791-17895792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139623689	chr21:17895798-17895799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537292026	chr21:17895867-17895868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559764605	chr21:17895897-17895898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112093974	chr21:17895898-17895899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528646168	chr21:17895936-17895937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548693534	chr21:17895942-17895943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114020205	chr21:17895943-17895944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536800322	chr21:17895991-17895992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550874675	chr21:17896069-17896070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77240098	chr21:17896132-17896133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75942130	chr21:17896194-17896195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78144408	chr21:17896199-17896200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374954479	chr21:17896225-17896226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535183989	chr21:17896262-17896263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554994622	chr21:17896290-17896291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114210851	chr21:17896306-17896307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112835685	chr21:17896313-17896314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536472522	chr21:17896316-17896317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79433849	chr21:17896349-17896350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369798286	chr21:17896362-17896363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577497456	chr21:17896378-17896379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78777790	chr21:17896406-17896407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146670721	chr21:17896412-17896413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58347042	chr21:17896424-17896425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76742438	chr21:17896518-17896519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Williams-beuren syndrome	16826523	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:17889800-17902800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17892200-17898400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:17892200-17904000	Weak transcription	Ovary	ovary
5	chr21:17894200-17895200	Enhancers	Osteobl	bone
6	chr21:17894200-17906200	Weak transcription	Left Ventricle	heart
7	chr21:17894200-17906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:17894600-17895600	Enhancers	Liver	Liver
9	chr21:17894600-17896200	Enhancers	A549	lung
10	chr21:17894600-17896200	Enhancers	Hela-S3	cervix
11	chr21:17894800-17895200	Enhancers	Colon Smooth Muscle	Colon
12	chr21:17894800-17896600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:17895000-17904400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr21:17896200-17896600	Enhancers	Brain Substantia Nigra	brain
15	chr21:17896200-17904400	Weak transcription	Hela-S3	cervix
16	chr21:17896600-17898800	Weak transcription	Brain Substantia Nigra	brain
17	chr21:17897800-17898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:17897800-17904200	Weak transcription	Esophagus	oesophagus
19	chr21:17898400-17899400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17898600-17898800	Enhancers	Psoas Muscle	Psoas
21	chr21:17898800-17899400	Enhancers	Brain Substantia Nigra	brain
22	chr21:17898800-17906000	Weak transcription	Psoas Muscle	Psoas
23	chr21:17899400-17903800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:17901000-17902800	Enhancers	HUVEC	blood vessel
25	chr21:17902800-17903200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr21:17902800-17903600	Flanking Active TSS	HUVEC	blood vessel
27	chr21:17903200-17904000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr21:17903600-17906800	Enhancers	HUVEC	blood vessel
29	chr21:17903800-17904600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:17904000-17904200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr21:17904000-17904200	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr21:17904000-17904400	Enhancers	NHDF-Ad	bronchial
33	chr21:17904000-17904600	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr21:17904000-17904600	Enhancers	Ovary	ovary
35	chr21:17904000-17904600	Enhancers	Right Atrium	heart
36	chr21:17904000-17905600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:17904000-17906600	Weak transcription	Fetal Kidney	kidney
38	chr21:17904200-17904400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr21:17904200-17904600	Enhancers	Esophagus	oesophagus
40	chr21:17904200-17904800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr21:17904200-17905200	Weak transcription	Brain Substantia Nigra	brain
42	chr21:17904200-17905400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:17904200-17906000	Enhancers	Brain Anterior Caudate	brain
44	chr21:17904400-17904600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:17904400-17904800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:17904400-17904800	Enhancers	Brain Angular Gyrus	brain
47	chr21:17904400-17904800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:17904400-17905000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:17904400-17905400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:17904400-17905400	Enhancers	Liver	Liver

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