Variant report

Variant	nsv892180
Chromosome Location	chr9:6680477-6750556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2109)
CpG islands
(count:1161)
Chromatin interactive
region (count:122)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2109 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6714320-6714869	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
4	ARID3A	chr9:6702813-6703015	K562	blood:	n/a	n/a
5	ARID3A	chr9:6716174-6716454	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:6739329-6739619	HepG2	liver:	n/a	n/a
7	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
8	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
9	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
10	ATF2	chr9:6722741-6723673	GM12878	blood:	n/a	n/a
11	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
13	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
14	ATF2	chr9:6703839-6704309	GM12878	blood:	n/a	n/a
15	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
16	ATF2	chr9:6722727-6723186	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6703874-6704656	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
19	ATF2	chr9:6715890-6716329	GM12878	blood:	n/a	chr9:6716129-6716140
20	ATF2	chr9:6715844-6716527	GM12878	blood:	n/a	chr9:6716129-6716140
21	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr9:6703375-6704596	GM12878	blood:	n/a	n/a
23	ATF2	chr9:6750387-6751234	GM12878	blood:	n/a	n/a
24	ATF2	chr9:6703987-6704605	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
26	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
27	ATF3	chr9:6703937-6704598	GM12878	blood:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
28	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
29	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
30	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
31	ATF3	chr9:6704052-6704432	HepG2	liver:	n/a	chr9:6704101-6704111
32	ATF3	chr9:6703946-6704478	A549	lung:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
33	ATF3	chr9:6703940-6704551	HepG2	liver:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
34	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
35	ATF3	chr9:6704051-6704512	A549	lung:	n/a	chr9:6704101-6704111
36	ATF3	chr9:6703972-6704567	H1-hESC	embryonic stem cell:	n/a	chr9:6704101-6704111
37	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
38	ATF3	chr9:6704072-6704352	GM12878	blood:	n/a	chr9:6704101-6704111
39	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
40	ATF3	chr9:6703900-6704493	H1-hESC	embryonic stem cell:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
41	BACH1	chr9:6684511-6684834	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr9:6703514-6704556	H1-hESC	embryonic stem cell:	n/a	n/a
44	BATF	chr9:6681559-6681850	GM12878	blood:	n/a	n/a
45	BATF	chr9:6683125-6683562	GM12878	blood:	n/a	n/a
46	BATF	chr9:6723227-6723565	GM12878	blood:	n/a	n/a
47	BATF	chr9:6722711-6723091	GM12878	blood:	n/a	n/a
48	BATF	chr9:6683124-6683704	GM12878	blood:	n/a	n/a
49	BCL11A	chr9:6683034-6683594	GM12878	blood:	n/a	n/a
50	BCL11A	chr9:6723143-6723561	GM12878	blood:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6680932-6680982	MCF-7	breast:	n/a
2	chr9:6680800-6680850	NH-A	brain:	n/a
3	chr9:6680932-6680982	MCF-7	breast:	n/a
4	chr9:6680800-6680850	NH-A	brain:	n/a
5	chr9:6680923-6680973	HEK293	kidney:	embryo
6	chr9:6681415-6681465	AG09309	skin:	n/a
7	chr9:6680923-6680973	SKMC	muscle:	n/a
8	chr9:6680932-6680982	Jurkat	blood:	n/a
9	chr9:6716417-6716467	ovcar-3	ovarian:	n/a
10	chr9:6707115-6707165	PrEC	prostate:	n/a
11	chr9:6716480-6716530	GM12891	blood:	n/a
12	chr9:6700000-6700050	HL-60	blood:	n/a
13	chr9:6681608-6681658	NT2-D1	testis:	n/a
14	chr9:6681608-6681658	PrEC	prostate:	n/a
15	chr9:6716480-6716530	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:6680932-6680982	MCF10A-Er-Src	breast:	n/a
17	chr9:6716480-6716530	NHDF-neo	bronchial:	n/a
18	chr9:6680800-6680850	ProgFib	skin:	n/a
19	chr9:6680923-6680973	HRCEpiC	kidney:	n/a
20	chr9:6703949-6703999	HEK293	kidney:	embryo
21	chr9:6681608-6681658	HPAEpiC	pulmonary alveolar:	n/a
22	chr9:6681559-6681609	Hela-S3	cervix:	n/a
23	chr9:6706149-6706199	HCF	heart:	n/a
24	chr9:6716007-6716057	HRCEpiC	kidney:	n/a
25	chr9:6703949-6703999	GM19239	blood:	n/a
26	chr9:6707115-6707165	SK-N-SH	brain:	n/a
27	chr9:6706149-6706199	PANC-1	pancreas:	n/a
28	chr9:6681608-6681658	SK-N-SH_RA	brain:	n/a
29	chr9:6700000-6700050	PrEC	prostate:	n/a
30	chr9:6680800-6680850	NHDF-neo	bronchial:	n/a
31	chr9:6716417-6716467	HCM	heart:	n/a
32	chr9:6680932-6680982	HRE	kidney:	n/a
33	chr9:6681415-6681465	AG04449	skin:	fetal
34	chr9:6683274-6683324	MCF-7	breast:	n/a
35	chr9:6703605-6703655	U87	brain:	n/a
36	chr9:6703949-6703999	HMEC	breast:	n/a
37	chr9:6704574-6704624	SKMC	muscle:	n/a
38	chr9:6700000-6700050	AoSMC	blood vessel:	n/a
39	chr9:6707115-6707165	MCF-7	breast:	n/a
40	chr9:6703949-6703999	MCF-7	breast:	n/a
41	chr9:6681415-6681465	HUVEC	blood vessel:	n/a
42	chr9:6681608-6681658	SK-N-SH	brain:	n/a
43	chr9:6704574-6704624	SK-N-SH	brain:	n/a
44	chr9:6680800-6680850	AoSMC	blood vessel:	n/a
45	chr9:6681415-6681465	HRPEpiC	eye:	n/a
46	chr9:6716417-6716467	MCF-7	breast:	n/a
47	chr9:6716417-6716467	AoSMC	blood vessel:	n/a
48	chr9:6716480-6716530	U87	brain:	n/a
49	chr9:6715032-6715082	NB4	blood:	n/a
50	chr9:6704574-6704624	NHBE	bronchial:	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:6674523..6677794-chr9:6679022..6682789,5	K562	blood:
2	chr9:6714855..6717847-chr9:6737862..6741209,3	MCF-7	breast:
3	chr9:6702551..6705246-chr9:6715022..6717677,6	MCF-7	breast:
4	chr9:6716286..6718322-chr9:6724305..6726614,2	MCF-7	breast:
5	chr20:3747959..3748789-chr9:6681040..6681979,2	NB4	blood:
6	chr9:6683289..6684884-chr9:6702645..6704262,2	MCF-7	breast:
7	chr9:6682207..6684667-chr9:6707689..6709841,2	K562	blood:
8	chr9:6681423..6683704-chr9:6710640..6713020,2	MCF-7	breast:
9	chr5:166256227..166256733-chr9:6703705..6704305,2	MCF-7	breast:
10	chr9:6615911..6617907-chr9:6681150..6682978,2	MCF-7	breast:
11	chr9:6702847..6705575-chr9:6714326..6717882,7	MCF-7	breast:
12	chr9:6680773..6682962-chr9:6702713..6705458,5	MCF-7	breast:
13	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
14	chr17:57916861..57918558-chr9:6681283..6683032,2	MCF-7	breast:
15	chr1:24125890..24126538-chr9:6680656..6681410,2	NB4	blood:
16	chr9:6669357..6672334-chr9:6679173..6682127,3	MCF-7	breast:
17	chr9:6749197..6752825-chr9:6755235..6757236,4	K562	blood:
18	chr9:6685128..6687481-chr9:6715768..6718010,2	MCF-7	breast:
19	chr9:6680439..6681279-chr9:136024589..136025226,2	NB4	blood:
20	chr9:6638714..6640466-chr9:6681026..6683863,2	MCF-7	breast:
21	chr15:65596841..65597490-chr9:6680775..6681724,2	NB4	blood:
22	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
23	chr9:6680639..6682955-chr9:6686831..6689135,2	MCF-7	breast:
24	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
25	chr9:6671740..6675372-chr9:6679558..6683814,6	MCF-7	breast:
26	chr9:6725196..6728190-chr9:6756447..6759048,2	MCF-7	breast:
27	chr9:6579960..6582259-chr9:6679731..6681701,2	MCF-7	breast:
28	chr13:52026416..52027352-chr9:6680809..6681352,2	NB4	blood:
29	chr9:6682207..6684667-chr9:6707689..6709841,2	K562	blood:
30	chr9:6679678..6684692-chr9:6754924..6762822,14	K562	blood:
31	chr2:32389334..32390859-chr9:6713099..6716031,2	MCF-7	breast:
32	chr9:6679734..6682958-chr9:6730915..6733550,3	MCF-7	breast:
33	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
34	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
35	chr1:115053255..115053998-chr9:6681371..6681985,2	NB4	blood:
36	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:
37	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
38	chr19:10612863..10613478-chr9:6680803..6681416,2	NB4	blood:
39	chr9:6714309..6715981-chr9:6723655..6726584,2	MCF-7	breast:
40	chr9:6680087..6683627-chr9:6714158..6717601,7	MCF-7	breast:
41	chr9:6706468..6709007-chr9:6764056..6766511,2	MCF-7	breast:
42	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
43	chr11:6255893..6256668-chr9:6681534..6682304,2	HCT-116	colon:
44	chr9:6681473..6683386-chr9:6714578..6718490,5	MCF-7	breast:
45	chr19:47734079..47734823-chr9:6681251..6681785,2	NB4	blood:
46	chr9:6702391..6705446-chr9:6756717..6760058,5	MCF-7	breast:
47	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
48	chr18:812828..813642-chr9:6680571..6681106,2	NB4	blood:
49	chr9:6412059..6414733-chr9:6680071..6683116,4	K562	blood:
50	chr12:91346285..91346785-chr9:6680944..6681459,2	NB4	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-2	chr9:6704471-6704653	XLOC_007275
2	lnc-KDM4C-1	chr9:6718810-6718981	ENSG00000225489.1
3	lnc-KDM4C-1	chr9:6718965-6718981	ENSG00000225489.2
4	lnc-KDM4C-2	chr9:6707542-6707780	XLOC_007275
5	lnc-SNRPEP2-1	chr9:6734598-6735076	NONHSAT130163
6	lnc-KDM4C-1	chr9:6709068-6709154	NONHSAT130156
7	lnc-KDM4C-1	chr9:6717873-6719234	NONHSAT130157
8	lnc-KDM4C-1	chr9:6706548-6706616	NONHSAT130154
9	lnc-KDM4C-2	chr9:6704453-6704653	XLOC_007275
10	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
11	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
12	lnc-KDM4C-1	chr9:6709071-6709154	NONHSAT130154
13	lnc-GLDC-1	chr9:6748703-6748981	NONHSAT130164
14	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130156
15	lnc-KDM4C-1	chr9:6709071-6709370	NONHSAT130155
16	lnc-KDM4C-1	chr9:6723527-6723630	ENSG00000225489.1
17	lnc-KDM4C-1	chr9:6716196-6716315	NONHSAT130158
18	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150
19	lnc-KDM4C-1	chr9:6717873-6718149	NONHSAT130158
20	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.1
21	lnc-KDM4C-1	chr9:6710863-6710997	NONHSAT130154
22	lnc-KDM4C-2	chr9:6704179-6704343	XLOC_007275
23	lnc-KDM4C-1	chr9:6716183-6716616	NONHSAT130157
24	lnc-KDM4C-2	chr9:6704453-6704977	NONHSAT130152
25	lnc-KDM4C-1	chr9:6719068-6719154	ENSG00000225489.1
26	lnc-KDM4C-1	chr9:6716946-6717438	NONHSAT130156
27	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.1
28	lnc-KDM4C-1	chr9:6707873-6708981	NONHSAT130154
29	lnc-KDM4C-2	chr9:6704339-6704366	NONHSAT130152
30	lnc-KDM4C-1	chr9:6708810-6708981	NONHSAT130155
31	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.2
32	lnc-KDM4C-1	chr9:6719071-6719370	ENSG00000225489.1
33	lnc-KDM4C-1	chr9:6713527-6713630	NONHSAT130154
34	lnc-KDM4C-2	chr9:6707542-6707763	XLOC_007275
35	lnc-KDM4C-1	chr9:6726503-6726619	ENSG00000225489.2
36	lnc-KDM4C-1	chr9:6717873-6718981	ENSG00000225489.1
37	lnc-KDM4C-1	chr9:6726946-6727438	ENSG00000225489.1
38	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.1
39	lnc-KDM4C-1	chr9:6716503-6716619	NONHSAT130156
40	lnc-KDM4C-2	chr9:6704406-6704653	NONHSAT130153
41	lnc-KDM4C-1	chr9:6719071-6719154	ENSG00000225489.2
42	lnc-KDM4C-1	chr9:6716548-6716616	ENSG00000225489.1
43	lnc-KDM4C-1	chr9:6720863-6720997	ENSG00000225489.2
44	lnc-KDM4C-2	chr9:6707542-6707776	NONHSAT130153

No data

Variant related genes	Relation type
SNRPEP2	TF binding region
ENSG00000229611	TF binding region
KDM4C	TF binding region
ENSG00000231108	TF binding region
ENSG00000225489	TF binding region
SNRPEP2	CpG island
ENSG00000229611	CpG island
KDM4C	CpG island
ENSG00000231108	CpG island
ENSG00000225489	CpG island
ENSG00000051009	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000105327	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000178445	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000147854	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000156875	chromatin interactions
ENSG00000170043	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000215717	chromatin interactions
ENSG00000107036	chromatin interactions
DNMT3A	miRNA target sites
NXT2	miRNA target sites

Extended variants
information (count: 3851 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3851 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1759402	chr9:6680477-6680478	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534024948	chr9:6680532-6680533	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs577969814	chr9:6680542-6680543	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs59768269	chr9:6680594-6680595	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12350311	chr9:6680595-6680596	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530498716	chr9:6680705-6680706	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs542394930	chr9:6680713-6680714	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs538773694	chr9:6680738-6680739	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs75444311	chr9:6680740-6680741	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs547129611	chr9:6680753-6680754	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs571620498	chr9:6680840-6680841	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
12	rs532637771	chr9:6680873-6680874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs550839117	chr9:6680896-6680897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
14	rs139560009	chr9:6680904-6680905	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
15	rs536639944	chr9:6680907-6680908	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
16	rs558667033	chr9:6680910-6680911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
17	rs114227891	chr9:6680916-6680917	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs111807161	chr9:6680937-6680938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs553171064	chr9:6680963-6680964	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
20	rs578016771	chr9:6681024-6681025	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
21	rs538964096	chr9:6681034-6681035	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
22	rs557279908	chr9:6681066-6681067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
23	rs575174842	chr9:6681073-6681074	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
24	rs540235559	chr9:6681100-6681101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs187898065	chr9:6681101-6681102	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs560827314	chr9:6681108-6681109	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
27	rs113768128	chr9:6681110-6681111	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
28	rs572859559	chr9:6681118-6681119	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
29	rs369490991	chr9:6681137-6681138	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
30	rs540446788	chr9:6681153-6681154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
31	rs565163046	chr9:6681176-6681177	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
32	rs149709732	chr9:6681220-6681221	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
33	rs1759403	chr9:6681229-6681230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116254190	chr9:6681239-6681240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
35	rs115062110	chr9:6681265-6681266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
36	rs566867695	chr9:6681271-6681272	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
37	rs534272082	chr9:6681293-6681294	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
38	rs552684548	chr9:6681301-6681302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
39	rs571504234	chr9:6681303-6681304	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs375640641	chr9:6681304-6681305	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
41	rs202116498	chr9:6681309-6681310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
42	rs538829548	chr9:6681311-6681312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
43	rs1658939	chr9:6681318-6681319	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370783063	chr9:6681345-6681346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
45	rs575452896	chr9:6681352-6681353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
46	rs1759404	chr9:6681354-6681355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554519826	chr9:6681382-6681383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
48	rs572726886	chr9:6681406-6681407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
49	rs539972216	chr9:6681431-6681432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
50	rs564628786	chr9:6681441-6681442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1385 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6664600-6680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:6670800-6680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:6678400-6680600	Weak transcription	Placenta	Placenta
4	chr9:6678400-6680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:6680000-6681200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:6680000-6682400	Active TSS	Liver	Liver
7	chr9:6680000-6682800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:6680200-6680600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr9:6680200-6680600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr9:6680200-6681200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr9:6680200-6682800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:6680400-6680600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:6680400-6680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:6680400-6680600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr9:6680400-6680600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:6680400-6680600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:6680400-6680600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:6680400-6680600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr9:6680400-6680600	Enhancers	Colonic Mucosa	Colon
20	chr9:6680400-6680600	Active TSS	Fetal Brain Male	brain
21	chr9:6680400-6680600	Enhancers	Fetal Kidney	kidney
22	chr9:6680400-6680600	Enhancers	Fetal Muscle Leg	muscle
23	chr9:6680400-6680600	Active TSS	Fetal Thymus	thymus
24	chr9:6680400-6680600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:6680400-6680600	Weak transcription	Stomach Mucosa	stomach
26	chr9:6680400-6680600	Flanking Active TSS	A549	lung
27	chr9:6680400-6680600	Active TSS	NH-A	brain
28	chr9:6680400-6680800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:6680400-6680800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr9:6680400-6680800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr9:6680400-6680800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr9:6680400-6680800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr9:6680400-6680800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:6680400-6680800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:6680400-6680800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:6680400-6680800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr9:6680400-6680800	Flanking Active TSS	Fetal Brain Female	brain
38	chr9:6680400-6680800	Active TSS	Fetal Muscle Trunk	muscle
39	chr9:6680400-6680800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr9:6680400-6680800	Flanking Active TSS	Hela-S3	cervix
41	chr9:6680400-6680800	Flanking Active TSS	HepG2	liver
42	chr9:6680400-6680800	Flanking Active TSS	K562	blood
43	chr9:6680400-6681000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr9:6680400-6681000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr9:6680400-6681000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:6680400-6681000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr9:6680400-6681000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:6680400-6681000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr9:6680400-6681000	Flanking Active TSS	GM12878-XiMat	blood
50	chr9:6680400-6681000	Flanking Active TSS	HMEC	breast

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