Variant report

Variant	nsv466509
Chromosome Location	chr9:116356516-116396098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1105)
CpG islands
(count:244)
Chromatin interactive
region (count:51)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:116382820-116383077	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:116376294-116376349	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:116372138-116372489	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:116391132-116391133	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:116384914-116385574	HepG2	liver:	n/a	n/a
6	ATF1	chr9:116364371-116364692	K562	blood:	n/a	n/a
7	ATF2	chr9:116382711-116383313	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr9:116364344-116364774	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr9:116385186-116385785	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr9:116361949-116362540	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr9:116385103-116385621	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr9:116382718-116383223	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr9:116366723-116366919	K562	blood:	n/a	n/a
14	ATF3	chr9:116382768-116383032	K562	blood:	n/a	n/a
15	ATF3	chr9:116382699-116383222	A549	lung:	n/a	n/a
16	ATF3	chr9:116382824-116383173	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr9:116372310-116372500	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr9:116385319-116385849	H1-hESC	embryonic stem cell:	n/a	n/a
19	BHLHE40	chr9:116360298-116360491	K562	blood:	n/a	n/a
20	BHLHE40	chr9:116364735-116365218	HepG2	liver:	n/a	n/a
21	BHLHE40	chr9:116364369-116365123	K562	blood:	n/a	n/a
22	BHLHE40	chr9:116377619-116377877	GM12878	blood:	n/a	n/a
23	CBX3	chr9:116366546-116366890	K562	blood:	n/a	n/a
24	CCNT2	chr9:116364407-116364674	K562	blood:	n/a	chr9:116364569-116364578
25	CCNT2	chr9:116375263-116375436	K562	blood:	n/a	n/a
26	CEBPB	chr9:116364584-116364597	K562	blood:	n/a	n/a
27	CEBPB	chr9:116382888-116383139	HepG2	liver:	n/a	n/a
28	CEBPB	chr9:116377193-116377726	IMR90	lung:	n/a	n/a
29	CEBPB	chr9:116385265-116385559	IMR90	lung:	n/a	n/a
30	CEBPB	chr9:116382792-116383041	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr9:116382813-116383073	IMR90	lung:	n/a	n/a
32	CEBPB	chr9:116385185-116385485	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr9:116361959-116362794	IMR90	lung:	n/a	n/a
34	CEBPB	chr9:116394328-116394654	IMR90	lung:	n/a	n/a
35	CEBPB	chr9:116394946-116395391	IMR90	lung:	n/a	n/a
36	CEBPB	chr9:116364534-116364681	HepG2	liver:	n/a	n/a
37	CEBPB	chr9:116382840-116383098	Hela-S3	cervix:	n/a	n/a
38	CHD1	chr9:116355774-116358399	IMR90	lung:	n/a	n/a
39	CHD2	chr9:116382786-116383006	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr9:116382889-116383066	HepG2	liver:	n/a	n/a
41	CHD2	chr9:116382848-116383196	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr9:116385498-116385611	HepG2	liver:	n/a	n/a
43	CHD2	chr9:116372137-116372469	HepG2	liver:	n/a	n/a
44	CHD2	chr9:116385248-116385621	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr9:116371781-116372554	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr9:116377356-116377805	GM12878	blood:	n/a	n/a
47	CREB1	chr9:116364397-116364801	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr9:116355977-116356547	A549	lung:	n/a	n/a
49	CREB1	chr9:116364306-116364634	GM12878	blood:	n/a	n/a
50	CREB1	chr9:116385163-116385556	H1-hESC	embryonic stem cell:	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	chr9:116372034-116372084	AG09309	skin:	n/a
2	chr9:116362889-116362939	AG09319	gingival:	n/a
3	chr9:116359818-116359868	SK-N-SH	brain:	n/a
4	chr9:116362889-116362939	GM12892	blood:	n/a
5	chr9:116372034-116372084	SK-N-SH_RA	brain:	n/a
6	chr9:116359818-116359868	GM12878	blood:	n/a
7	chr9:116362889-116362939	ECC-1	luminal epithelium:	n/a
8	chr9:116372034-116372084	HEK293	kidney:	embryo
9	chr9:116358024-116358074	GM06990	blood:	n/a
10	chr9:116358024-116358074	SK-N-SH_RA	brain:	n/a
11	chr9:116362889-116362939	HCM	heart:	n/a
12	chr9:116372034-116372084	MCF-7	breast:	n/a
13	chr9:116372034-116372084	Caco-2	colon:	n/a
14	chr9:116372034-116372084	NH-A	brain:	n/a
15	chr9:116359818-116359868	HMEC	breast:	n/a
16	chr9:116372034-116372084	BJ	skin:	n/a
17	chr9:116372034-116372084	AG04450	lung:	fetal
18	chr9:116359818-116359868	A549	lung:	n/a
19	chr9:116358024-116358074	AG04449	skin:	fetal
20	chr9:116358024-116358074	CMK	blood:	n/a
21	chr9:116358024-116358074	HRE	kidney:	n/a
22	chr9:116372034-116372084	GM12878	blood:	n/a
23	chr9:116372034-116372084	ECC-1	luminal epithelium:	n/a
24	chr9:116359818-116359868	RPTEC	kidney:	n/a
25	chr9:116359818-116359868	U87	brain:	n/a
26	chr9:116358024-116358074	GM12892	blood:	n/a
27	chr9:116372034-116372084	K562	blood:	n/a
28	chr9:116362889-116362939	K562	blood:	n/a
29	chr9:116359818-116359868	HUVEC	blood vessel:	n/a
30	chr9:116359818-116359868	NT2-D1	testis:	n/a
31	chr9:116372034-116372084	Hela-S3	cervix:	n/a
32	chr9:116359818-116359868	HepG2	liver:	n/a
33	chr9:116358024-116358074	NHDF-neo	bronchial:	n/a
34	chr9:116358024-116358074	HUVEC	blood vessel:	n/a
35	chr9:116359818-116359868	HCF	heart:	n/a
36	chr9:116362889-116362939	HCPEpiC	choroid plexus:	n/a
37	chr9:116362889-116362939	SAEC	small airway:	n/a
38	chr9:116358024-116358074	HIPEpiC	eye:	n/a
39	chr9:116358024-116358074	AG10803	skin:	n/a
40	chr9:116359818-116359868	ProgFib	skin:	n/a
41	chr9:116372034-116372084	SAEC	small airway:	n/a
42	chr9:116358024-116358074	HL-60	blood:	n/a
43	chr9:116362889-116362939	SKMC	muscle:	n/a
44	chr9:116359818-116359868	AG04450	lung:	fetal
45	chr9:116362889-116362939	H1-hESC	embryonic stem cell:	embryo
46	chr9:116359818-116359868	PANC-1	pancreas:	n/a
47	chr9:116372034-116372084	HL-60	blood:	n/a
48	chr9:116359818-116359868	HL-60	blood:	n/a
49	chr9:116362889-116362939	HPAEpiC	pulmonary alveolar:	n/a
50	chr9:116358024-116358074	HCT-116	colon:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:116368474..116370761-chr9:116371001..116373367,2	MCF-7	breast:
2	chr9:116373324..116375940-chr9:116380563..116382794,2	MCF-7	breast:
3	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:
4	chr9:116348874..116350912-chr9:116362853..116364416,2	MCF-7	breast:
5	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
6	chr9:116386561..116388140-chr9:116399851..116401503,2	MCF-7	breast:
7	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:
8	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
9	chr9:116395680..116398027-chr9:116408814..116410400,2	MCF-7	breast:
10	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:
11	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
12	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
13	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:
14	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
15	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:
16	chr9:116368954..116370603-chr9:116373905..116376244,2	MCF-7	breast:
17	chr9:116379738..116382118-chr9:116392822..116396167,3	MCF-7	breast:
18	chr9:116384013..116386920-chr9:116410896..116413460,2	MCF-7	breast:
19	chr9:116368954..116370603-chr9:116373905..116376244,2	MCF-7	breast:
20	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
21	chr9:116343200..116345201-chr9:116363106..116364913,2	MCF-7	breast:
22	chr9:116173212..116174744-chr9:116360049..116362132,2	K562	blood:
23	chr9:116364672..116367023-chr9:116368239..116370280,2	MCF-7	breast:
24	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
25	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
26	chr9:116382263..116386126-chr9:116386783..116389124,3	MCF-7	breast:
27	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
28	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:
29	chr9:116385601..116388209-chr9:116407553..116409087,2	MCF-7	breast:
30	chr9:116364672..116367023-chr9:116368239..116370280,2	MCF-7	breast:
31	chr9:116368474..116370761-chr9:116371001..116373367,2	MCF-7	breast:
32	chr9:116385537..116387562-chr9:116409870..116412944,3	MCF-7	breast:
33	chr9:116378512..116381632-chr9:116384610..116387755,3	MCF-7	breast:
34	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
35	chr9:116354124..116355971-chr9:116365134..116366899,2	MCF-7	breast:
36	chr9:116383635..116386801-chr9:116393462..116397071,5	MCF-7	breast:
37	chr9:116376628..116378313-chr9:116382222..116384609,3	MCF-7	breast:
38	chr9:116356309..116357937-chr9:116375558..116377978,2	MCF-7	breast:
39	chr9:116172702..116174409-chr9:116381360..116383255,2	MCF-7	breast:
40	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
41	chr9:116376834..116379828-chr9:116381468..116382973,2	MCF-7	breast:
42	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
43	chr9:116354705..116357000-chr9:116361323..116363210,2	MCF-7	breast:
44	chr9:116387727..116389592-chr9:116393862..116395666,2	K562	blood:
45	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:
46	chr9:116382263..116386126-chr9:116386783..116389124,3	MCF-7	breast:
47	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
48	chr9:116382976..116384778-chr9:116398456..116400066,2	MCF-7	breast:
49	chr9:116388280..116391769-chr9:116395247..116396966,3	MCF-7	breast:
50	chr9:116355462..116357757-chr9:116360945..116362836,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS3-1	chr9:116382056-116384914	ENSG00000233817
2	lnc-C9orf43-6	chr9:116357199-116357374	NONHSAT134355
3	lnc-RGS3-1	chr9:116381508-116381691	ENSG00000233817
4	lnc-C9orf43-6	chr9:116356424-116356811	NONHSAT134355

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RGS3	hsa-miR-126-3p	chr9:116359446-116359453
2	RGS3	hsa-miR-133a-3p	chr9:116359367-116359388

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000233817	TF binding region
ENSG00000237073	TF binding region
RGS3	CpG island
ENSG00000233817	CpG island
ENSG00000237073	CpG island
ENSG00000233817	chromatin interactions
ENSG00000227482	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000138835	chromatin interactions
ENSG00000148229	chromatin interactions
SIPA1L2	miRNA target sites
LPHN1	miRNA target sites

Extended variants
information (count: 1574 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1574 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12341266	chr9:116356516-116356517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369456500	chr9:116356520-116356521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs10817493	chr9:116356529-116356530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143127271	chr9:116356546-116356547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs113405588	chr9:116356549-116356550	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs368061959	chr9:116356550-116356551	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs199676747	chr9:116356560-116356561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs141298845	chr9:116356564-116356565	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs376576115	chr9:116356567-116356568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs369425536	chr9:116356569-116356570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs147247836	chr9:116356570-116356571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs559605553	chr9:116356575-116356576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs143372017	chr9:116356582-116356583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs545420954	chr9:116356586-116356587	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs564331467	chr9:116356602-116356603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs117328317	chr9:116356631-116356632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs200416719	chr9:116356644-116356645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs377680984	chr9:116356645-116356646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs199660603	chr9:116356651-116356652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs576516149	chr9:116356652-116356653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs371250045	chr9:116356653-116356654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs550146486	chr9:116356661-116356662	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs569845040	chr9:116356665-116356666	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs201815715	chr9:116356669-116356670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs549034767	chr9:116356676-116356677	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs374705625	chr9:116356701-116356702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs565643565	chr9:116356738-116356739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs376894916	chr9:116356747-116356748	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs377319819	chr9:116356748-116356749	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs61749208	chr9:116356776-116356777	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370271355	chr9:116356777-116356778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs374543370	chr9:116356778-116356779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs143132743	chr9:116356779-116356780	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs200917628	chr9:116356835-116356836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs148080000	chr9:116356859-116356860	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs78606763	chr9:116356881-116356882	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs559314927	chr9:116356950-116356951	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs557268872	chr9:116356998-116356999	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs574141099	chr9:116357011-116357012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs542871531	chr9:116357075-116357076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs192116464	chr9:116357126-116357127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs148302556	chr9:116357133-116357134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs182520919	chr9:116357141-116357142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs565276618	chr9:116357144-116357145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs199923884	chr9:116357191-116357192	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs202104828	chr9:116357229-116357230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs147490572	chr9:116357251-116357252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs199852042	chr9:116357272-116357273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs201034031	chr9:116357280-116357281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs140430424	chr9:116357330-116357331	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116343200-116358800	Weak transcription	Hela-S3	cervix
2	chr9:116346600-116356800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:116348000-116361600	Weak transcription	Dnd41	blood
4	chr9:116352200-116357400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:116352400-116357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:116352400-116357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:116352400-116358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr9:116352400-116363200	Weak transcription	Thymus	Thymus
9	chr9:116352600-116357000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:116353200-116361000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:116353200-116361400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:116353400-116361400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:116353800-116360400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:116354200-116356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:116354800-116357000	Weak transcription	Primary T cells from cord blood	blood
16	chr9:116355200-116357200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:116355400-116356600	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:116355400-116356600	Enhancers	Primary B cells from peripheral blood	blood
19	chr9:116355600-116357000	Enhancers	Primary B cells from cord blood	blood
20	chr9:116355800-116356600	Flanking Active TSS	Fetal Brain Female	brain
21	chr9:116355800-116357000	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr9:116355800-116357000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:116355800-116357200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:116355800-116357200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:116355800-116357400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr9:116355800-116357400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr9:116355800-116357400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:116355800-116357400	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr9:116355800-116357400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr9:116355800-116357400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr9:116355800-116357600	Enhancers	Fetal Brain Male	brain
32	chr9:116355800-116357600	Active TSS	Right Ventricle	heart
33	chr9:116355800-116357600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr9:116355800-116357800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr9:116355800-116357800	Enhancers	Stomach Mucosa	stomach
36	chr9:116355800-116360800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:116355800-116360800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:116356000-116356600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr9:116356000-116356600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr9:116356000-116356600	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr9:116356000-116356800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:116356000-116357000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:116356000-116357000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr9:116356000-116357000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr9:116356000-116357200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr9:116356000-116357200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr9:116356000-116357200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:116356000-116357400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr9:116356000-116357400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr9:116356000-116357400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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