Variant report

Variant	esv1008480
Chromosome Location	chr9:117373830-117388680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:673)
CpG islands
(count:244)
Chromatin interactive
region (count:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:117381450-117382192	GM12878	blood:	n/a	n/a
2	ATF2	chr9:117378915-117379785	GM12878	blood:	n/a	n/a
3	ATF2	chr9:117381504-117382095	GM12878	blood:	n/a	n/a
4	ATF2	chr9:117379070-117379664	GM12878	blood:	n/a	n/a
5	ATF2	chr9:117373898-117374510	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:117379241-117379668	GM12878	blood:	n/a	chr9:117379596-117379605
7	BCL3	chr9:117375321-117375712	GM12878	blood:	n/a	n/a
8	BCL3	chr9:117373830-117374180	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
9	BCLAF1	chr9:117373923-117374715	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
10	BCLAF1	chr9:117378973-117379820	GM12878	blood:	n/a	chr9:117379596-117379605 chr9:117379213-117379222
11	BCLAF1	chr9:117373772-117374425	GM12878	blood:	n/a	chr9:117373975-117373984 chr9:117373984-117373997
12	BHLHE40	chr9:117373917-117374588	K562	blood:	n/a	n/a
13	BHLHE40	chr9:117381378-117382091	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:117379358-117379817	K562	blood:	n/a	n/a
15	BHLHE40	chr9:117375191-117375752	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:117379120-117379690	GM12878	blood:	n/a	n/a
17	BHLHE40	chr9:117373914-117374712	GM12878	blood:	n/a	n/a
18	BRCA1	chr9:117374239-117374264	GM12878	blood:	n/a	n/a
19	BRCA1	chr9:117374064-117374371	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr9:117373830-117374398	K562	blood:	n/a	n/a
21	CBX3	chr9:117379475-117379865	K562	blood:	n/a	n/a
22	CBX3	chr9:117379289-117379966	K562	blood:	n/a	n/a
23	CCNT2	chr9:117373308-117374252	K562	blood:	n/a	chr9:117374019-117374028
24	CEBPB	chr9:117374340-117374629	K562	blood:	n/a	n/a
25	CEBPB	chr9:117386932-117387317	MCF-7	breast:	n/a	n/a
26	CEBPB	chr9:117374119-117374760	K562	blood:	n/a	n/a
27	CEBPB	chr9:117374356-117374611	HepG2	liver:	n/a	n/a
28	CEBPB	chr9:117375436-117375761	K562	blood:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
29	CEBPB	chr9:117374320-117375088	HepG2	liver:	n/a	chr9:117374771-117374784
30	CEBPB	chr9:117375460-117375660	Hela-S3	cervix:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
31	CEBPB	chr9:117373969-117374855	Hela-S3	cervix:	n/a	chr9:117374771-117374784
32	CEBPB	chr9:117374229-117374807	MCF-7	breast:	n/a	chr9:117374771-117374784
33	CEBPB	chr9:117374279-117374751	K562	blood:	n/a	n/a
34	CEBPB	chr9:117374317-117374731	A549	lung:	n/a	n/a
35	CEBPB	chr9:117374267-117374744	A549	lung:	n/a	n/a
36	CEBPB	chr9:117374322-117374691	HepG2	liver:	n/a	n/a
37	CEBPB	chr9:117375002-117375906	GM12878	blood:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
38	CEBPB	chr9:117375472-117375663	HepG2	liver:	n/a	chr9:117375556-117375567 chr9:117375557-117375568 chr9:117375556-117375569
39	CEBPB	chr9:117374331-117374628	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:117374293-117374752	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr9:117374330-117374709	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr9:117374116-117374893	A549	lung:	n/a	chr9:117374771-117374784
43	CEBPB	chr9:117386887-117387414	MCF-7	breast:	n/a	n/a
44	CEBPB	chr9:117374297-117374687	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr9:117374105-117374734	IMR90	lung:	n/a	n/a
46	CEBPD	chr9:117374363-117374703	HepG2	liver:	n/a	n/a
47	CEBPD	chr9:117374421-117374657	HepG2	liver:	n/a	n/a
48	CHD1	chr9:117374921-117376023	GM12878	blood:	n/a	n/a
49	CHD1	chr9:117378966-117379768	GM12878	blood:	n/a	n/a
50	CHD1	chr9:117381350-117382056	GM12878	blood:	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	chr9:117374075-117374125	MCF10A-Er-Src	breast:	n/a
2	chr9:117376226-117376276	SAEC	small airway:	n/a
3	chr9:117374075-117374125	HepG2	liver:	n/a
4	chr9:117374170-117374220	AG04450	lung:	fetal
5	chr9:117374075-117374125	NHDF-neo	bronchial:	n/a
6	chr9:117376226-117376276	H1-hESC	embryonic stem cell:	embryo
7	chr9:117374075-117374125	HNPCEpiC	eye:	n/a
8	chr9:117374075-117374125	PrEC	prostate:	n/a
9	chr9:117376226-117376276	BE2_C	brain:	n/a
10	chr9:117376226-117376276	RPTEC	kidney:	n/a
11	chr9:117374308-117374358	GM12878	blood:	n/a
12	chr9:117374308-117374358	A549	lung:	n/a
13	chr9:117376226-117376276	U87	brain:	n/a
14	chr9:117374170-117374220	A549	lung:	n/a
15	chr9:117374308-117374358	PANC-1	pancreas:	n/a
16	chr9:117374170-117374220	HCT-116	colon:	n/a
17	chr9:117374075-117374125	HRCEpiC	kidney:	n/a
18	chr9:117374170-117374220	K562	blood:	n/a
19	chr9:117374075-117374125	HEK293	kidney:	embryo
20	chr9:117376226-117376276	IMR90	lung:	fetal
21	chr9:117374075-117374125	HUVEC	blood vessel:	n/a
22	chr9:117376226-117376276	AG04450	lung:	fetal
23	chr9:117374170-117374220	HL-60	blood:	n/a
24	chr9:117376226-117376276	ProgFib	skin:	n/a
25	chr9:117374170-117374220	LNCaP	prostate:	n/a
26	chr9:117374075-117374125	AG04450	lung:	fetal
27	chr9:117374170-117374220	SKMC	muscle:	n/a
28	chr9:117374075-117374125	HAEpiC	amniotic membrane:	n/a
29	chr9:117374308-117374358	Hepatocyte	liver:	n/a
30	chr9:117374308-117374358	AG09309	skin:	n/a
31	chr9:117374170-117374220	HRCEpiC	kidney:	n/a
32	chr9:117376226-117376276	HNPCEpiC	eye:	n/a
33	chr9:117376226-117376276	HepG2	liver:	n/a
34	chr9:117376226-117376276	NHBE	bronchial:	n/a
35	chr9:117374075-117374125	Caco-2	colon:	n/a
36	chr9:117376226-117376276	HCM	heart:	n/a
37	chr9:117374170-117374220	SAEC	small airway:	n/a
38	chr9:117374170-117374220	SK-N-SH	brain:	n/a
39	chr9:117374170-117374220	NHDF-neo	bronchial:	n/a
40	chr9:117374075-117374125	HCF	heart:	n/a
41	chr9:117374075-117374125	NH-A	brain:	n/a
42	chr9:117374170-117374220	PrEC	prostate:	n/a
43	chr9:117376226-117376276	HCPEpiC	choroid plexus:	n/a
44	chr9:117376226-117376276	AG09319	gingival:	n/a
45	chr9:117376226-117376276	AoSMC	blood vessel:	n/a
46	chr9:117374308-117374358	NB4	blood:	n/a
47	chr9:117374308-117374358	AG04449	skin:	fetal
48	chr9:117374308-117374358	Jurkat	blood:	n/a
49	chr9:117376226-117376276	HCF	heart:	n/a
50	chr9:117376226-117376276	SKMC	muscle:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:117383585..117385316-chr9:117387246..117388987,2	K562	blood:
2	chr9:117380986..117384351-chr9:117385688..117388944,4	MCF-7	breast:
3	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
4	chr9:117372335..117375171-chr9:117385613..117387571,2	K562	blood:
5	chr9:117383585..117385316-chr9:117387246..117388987,2	K562	blood:
6	chr9:117372577..117376440-chr9:117385141..117391874,10	MCF-7	breast:
7	chr9:117301959..117303545-chr9:117375054..117376572,2	MCF-7	breast:
8	chr9:117379874..117381903-chr9:117388019..117390804,3	K562	blood:
9	chr9:117198028..117200555-chr9:117380478..117382702,2	K562	blood:
10	chr9:117248554..117250072-chr9:117374914..117376570,2	MCF-7	breast:
11	chr9:117348515..117353806-chr9:117380145..117387168,10	MCF-7	breast:
12	chr9:117250118..117252252-chr9:117374718..117376331,2	MCF-7	breast:
13	chr9:117379630..117381202-chr9:117382713..117384791,2	K562	blood:
14	chr9:117386136..117388581-chr9:117390246..117391877,3	MCF-7	breast:
15	chr9:117356107..117357680-chr9:117384562..117387099,2	MCF-7	breast:
16	chr9:117349813..117350410-chr9:117373358..117373966,2	MCF-7	breast:
17	chr9:117382516..117384925-chr9:117414497..117416064,2	MCF-7	breast:
18	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:
19	chr9:117374384..117377233-chr9:117400977..117403274,2	K562	blood:
20	chr9:117189063..117191201-chr9:117373805..117375386,2	K562	blood:
21	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
22	chr9:117249651..117250434-chr9:117381196..117382137,2	MCF-7	breast:
23	chr9:117291759..117293963-chr9:117373811..117375856,2	K562	blood:
24	chr9:117379874..117381903-chr9:117388019..117390804,3	K562	blood:
25	chr9:117380986..117384351-chr9:117385688..117388944,4	MCF-7	breast:
26	chr6:31795413..31795934-chr9:117373017..117374000,2	Hela-S3	cervix:
27	chr9:117373263..117374203-chr9:130186181..130186719,2	Hela-S3	cervix:
28	chr9:117264889..117268621-chr9:117379323..117381348,3	MCF-7	breast:
29	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
30	chr9:117369156..117370961-chr9:117385955..117388099,2	MCF-7	breast:
31	chr9:117372326..117374917-chr9:117375396..117377851,3	K562	blood:
32	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
33	chr9:117266050..117268443-chr9:117383389..117385752,2	MCF-7	breast:
34	chr9:117373836..117375707-chr9:117400853..117402924,2	MCF-7	breast:
35	chr9:117265529..117267745-chr9:117380597..117382102,2	MCF-7	breast:
36	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
37	chr9:117312633..117314960-chr9:117382649..117384757,2	MCF-7	breast:
38	chr9:117385953..117388344-chr9:117389964..117392339,3	K562	blood:
39	chr9:117164837..117167280-chr9:117381575..117384542,2	MCF-7	breast:
40	chr9:117387693..117389355-chr9:117393767..117395602,2	MCF-7	breast:
41	chr9:117349462..117352492-chr9:117384584..117386650,3	MCF-7	breast:
42	chr9:117266855..117268743-chr9:117379428..117381102,2	K562	blood:
43	chr9:117373091..117376676-chr9:117386380..117392988,6	MCF-7	breast:
44	chr9:117386065..117390053-chr9:117395707..117398549,3	MCF-7	breast:
45	chr9:117376444..117379190-chr9:117386503..117389229,2	K562	blood:
46	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
47	chr9:117379630..117381202-chr9:117382713..117384791,2	K562	blood:
48	chr9:117349294..117352043-chr9:117375229..117380114,4	MCF-7	breast:
49	chr9:117372569..117375010-chr9:117403560..117405565,3	MCF-7	breast:
50	chr9:117371877..117375132-chr9:117385092..117388539,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G1-2	chr9:117374792-117377101	NONHSAT134388

No data

Variant related genes	Relation type
ENSG00000201749	TF binding region
ENSG00000272241	TF binding region
ENSG00000201749	CpG island
ENSG00000272241	CpG island
ENSG00000272241	chromatin interactions
ENSG00000201749	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000157693	chromatin interactions
ENSG00000196152	chromatin interactions
ENSG00000095397	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191026098	chr9:117373830-117373831	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs3035396	chr9:117373838-117373839	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs554821765	chr9:117373860-117373861	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs574841881	chr9:117373869-117373870	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs539838225	chr9:117373887-117373888	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs560054074	chr9:117373918-117373919	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs562592433	chr9:117373949-117373950	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs545855330	chr9:117373970-117373971	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs562585369	chr9:117373971-117373972	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs531517288	chr9:117373977-117373978	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs36123077	chr9:117373990-117373991	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs35294871	chr9:117374002-117374003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs34060687	chr9:117374009-117374010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs34461311	chr9:117374013-117374014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs181537256	chr9:117374022-117374023	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs561958543	chr9:117374075-117374076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs527622532	chr9:117374080-117374081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs529713907	chr9:117374116-117374117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs74691083	chr9:117374138-117374139	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs566832874	chr9:117374158-117374159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs541560418	chr9:117374217-117374218	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs10982329	chr9:117374246-117374247	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs370591498	chr9:117374291-117374292	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs538676568	chr9:117374312-117374313	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs143124842	chr9:117374361-117374362	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs186044465	chr9:117374374-117374375	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs80193061	chr9:117374396-117374397	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs373003712	chr9:117374398-117374399	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs114378713	chr9:117374407-117374408	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs554784889	chr9:117374432-117374433	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs574701437	chr9:117374467-117374468	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs146696970	chr9:117374516-117374517	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs572010294	chr9:117374517-117374518	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs576738156	chr9:117374559-117374560	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs561327275	chr9:117374591-117374592	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs562546915	chr9:117374697-117374698	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs576249537	chr9:117374705-117374706	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs77308726	chr9:117374714-117374715	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs546868239	chr9:117374721-117374722	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs145481609	chr9:117374734-117374735	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs561822759	chr9:117374771-117374772	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs191882603	chr9:117374793-117374794	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs139078663	chr9:117374804-117374805	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs112245801	chr9:117374914-117374915	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs538838238	chr9:117374923-117374924	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs149829848	chr9:117374970-117374971	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs532517321	chr9:117374997-117374998	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs375457704	chr9:117375011-117375012	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs569002427	chr9:117375025-117375026	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs182806100	chr9:117375026-117375027	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117369600-117374200	Weak transcription	Fetal Heart	heart
2	chr9:117372600-117374200	Active TSS	Brain Cingulate Gyrus	brain
3	chr9:117372800-117374200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:117372800-117374200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr9:117373000-117374000	Active TSS	Colonic Mucosa	Colon
6	chr9:117373000-117374200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:117373000-117374200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:117373000-117374200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:117373000-117374200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr9:117373200-117374000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:117373200-117374000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:117373200-117374200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:117373200-117374200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr9:117373200-117374200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:117373200-117374200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:117373200-117374200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr9:117373200-117374200	Active TSS	HSMM	muscle
18	chr9:117373200-117374400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:117373200-117374400	Active TSS	Brain Anterior Caudate	brain
20	chr9:117373200-117374400	Active TSS	Psoas Muscle	Psoas
21	chr9:117373200-117374600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:117373200-117374600	Active TSS	Left Ventricle	heart
23	chr9:117373200-117374600	Active TSS	Right Atrium	heart
24	chr9:117373200-117374800	Active TSS	Ovary	ovary
25	chr9:117373200-117375000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:117373400-117374000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr9:117373400-117374000	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr9:117373400-117374000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr9:117373400-117374000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr9:117373400-117374000	Active TSS	Liver	Liver
31	chr9:117373400-117374000	Weak transcription	Stomach Mucosa	stomach
32	chr9:117373400-117374200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:117373400-117374200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr9:117373400-117374200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:117373400-117374200	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr9:117373400-117374200	Active TSS	Primary B cells from peripheral blood	blood
37	chr9:117373400-117374200	Active TSS	Primary T cells from cord blood	blood
38	chr9:117373400-117374200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr9:117373400-117374200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr9:117373400-117374200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:117373400-117374200	Active TSS	Brain Hippocampus Middle	brain
42	chr9:117373400-117374200	Active TSS	Duodenum Mucosa	Duodenum
43	chr9:117373400-117374200	Active TSS	Fetal Intestine Large	intestine
44	chr9:117373400-117374200	Active TSS	Fetal Intestine Small	intestine
45	chr9:117373400-117374200	Active TSS	Fetal Lung	lung
46	chr9:117373400-117374200	Active TSS	Fetal Muscle Trunk	muscle
47	chr9:117373400-117374200	Active TSS	Fetal Muscle Leg	muscle
48	chr9:117373400-117374200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr9:117373400-117374200	Active TSS	A549	lung
50	chr9:117373400-117374200	Active TSS	HSMMtube	muscle

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