Variant report

Variant	esv3359987
Chromosome Location	chr9:94710956-94713704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:543)
CpG islands
(count:428)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:94712529-94712598	K562	blood:	n/a	n/a
2	ARID3A	chr9:94710383-94710964	K562	blood:	n/a	n/a
3	BACH1	chr9:94712501-94712871	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:94711162-94711495	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:94711063-94711373	K562	blood:	n/a	chr9:94711166-94711182
6	BHLHE40	chr9:94712258-94712984	K562	blood:	n/a	chr9:94712633-94712649 chr9:94712636-94712652
7	CBX3	chr9:94710994-94711464	K562	blood:	n/a	n/a
8	CCNT2	chr9:94710887-94712937	K562	blood:	n/a	chr9:94711693-94711702 chr9:94711618-94711627 chr9:94711360-94711369
9	CEBPB	chr9:94712556-94712630	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr9:94712777-94712847	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr9:94712387-94712587	H1-hESC	embryonic stem cell:	n/a	chr9:94712539-94712549
12	CHD2	chr9:94710941-94711305	K562	blood:	n/a	chr9:94711172-94711182
13	CHD2	chr9:94712243-94712348	K562	blood:	n/a	n/a
14	CHD2	chr9:94711517-94711563	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr9:94711573-94711773	K562	blood:	n/a	n/a
16	CREB1	chr9:94712395-94712789	A549	lung:	n/a	n/a
17	CTBP2	chr9:94710859-94712998	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:94711080-94711230	HFF	foreskin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
19	CTCF	chr9:94711140-94711290	NHDF-neo	bronchial:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
20	CTCF	chr9:94711000-94711150	HVMF	connective:	n/a	n/a
21	CTCF	chr9:94712460-94712610	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr9:94711380-94711530	GM12875	blood:	n/a	n/a
23	CTCF	chr9:94711280-94711430	GM12865	blood:	n/a	n/a
24	CTCF	chr9:94712440-94712590	WI-38	lung:	n/a	n/a
25	CTCF	chr9:94711380-94711530	HCM	heart:	n/a	n/a
26	CTCF	chr9:94711180-94711330	A549	lung:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
27	CTCF	chr9:94711048-94711362	K562	blood:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
28	CTCF	chr9:94712920-94713070	HVMF	connective:	n/a	n/a
29	CTCF	chr9:94711180-94711330	BJ	skin:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
30	CTCF	chr9:94712473-94712746	Fibrobl	skin:	n/a	n/a
31	CTCF	chr9:94711160-94711310	GM12867	blood:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
32	CTCF	chr9:94711100-94711250	HCM	heart:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
33	CTCF	chr9:94712480-94712630	GM12867	blood:	n/a	n/a
34	CTCF	chr9:94712540-94712690	AG09319	gingival:	n/a	n/a
35	CTCF	chr9:94712540-94712690	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr9:94711520-94711670	HCT-116	colon:	n/a	n/a
37	CTCF	chr9:94712461-94712719	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:94711160-94711310	GM12866	blood:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
39	CTCF	chr9:94711172-94711297	MCF-7	breast:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
40	CTCF	chr9:94711155-94711316	LNCaP	prostate:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
41	CTCF	chr9:94712385-94712769	A549	lung:	n/a	n/a
42	CTCF	chr9:94712520-94712670	HRE	kidney:	n/a	n/a
43	CTCF	chr9:94712620-94712770	HAc	cerebellar:	n/a	n/a
44	CTCF	chr9:94711140-94711290	Caco-2	colon:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
45	CTCF	chr9:94712870-94712963	GM12878	blood:	n/a	n/a
46	CTCF	chr9:94711180-94711330	BE2_C	brain:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
47	CTCF	chr9:94712476-94712734	A549	lung:	n/a	n/a
48	CTCF	chr9:94712740-94712890	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr9:94712520-94712670	A549	lung:	n/a	n/a
50	CTCF	chr9:94711240-94711390	BJ	skin:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:94712472-94712522	HRPEpiC	eye:	n/a
2	chr9:94712472-94712522	HRPEpiC	eye:	n/a
3	chr9:94712909-94712959	A549	lung:	n/a
4	chr9:94711214-94711264	U87	brain:	n/a
5	chr9:94712780-94712830	T-47D	breast:	n/a
6	chr9:94712780-94712830	AG10803	skin:	n/a
7	chr9:94712780-94712830	U87	brain:	n/a
8	chr9:94712780-94712830	NT2-D1	testis:	n/a
9	chr9:94712472-94712522	HEEpiC	esophagus:	n/a
10	chr9:94711214-94711264	SK-N-SH_RA	brain:	n/a
11	chr9:94711214-94711264	AG10803	skin:	n/a
12	chr9:94711818-94711868	HMEC	breast:	n/a
13	chr9:94711214-94711264	Jurkat	blood:	n/a
14	chr9:94712122-94712172	HMEC	breast:	n/a
15	chr9:94712780-94712830	HNPCEpiC	eye:	n/a
16	chr9:94711647-94711697	HAEpiC	amniotic membrane:	n/a
17	chr9:94712780-94712830	H1-hESC	embryonic stem cell:	embryo
18	chr9:94711647-94711697	SAEC	small airway:	n/a
19	chr9:94712122-94712172	Hepatocyte	liver:	n/a
20	chr9:94712472-94712522	AG04450	lung:	fetal
21	chr9:94711818-94711868	AG10803	skin:	n/a
22	chr9:94711647-94711697	GM06990	blood:	n/a
23	chr9:94711818-94711868	U87	brain:	n/a
24	chr9:94711647-94711697	BJ	skin:	n/a
25	chr9:94712909-94712959	AG09319	gingival:	n/a
26	chr9:94712909-94712959	SK-N-SH	brain:	n/a
27	chr9:94712909-94712959	ovcar-3	ovarian:	n/a
28	chr9:94711214-94711264	BE2_C	brain:	n/a
29	chr9:94711818-94711868	HEK293	kidney:	embryo
30	chr9:94711818-94711868	SAEC	small airway:	n/a
31	chr9:94711647-94711697	SK-N-MC	brain:	n/a
32	chr9:94712472-94712522	NHDF-neo	bronchial:	n/a
33	chr9:94711818-94711868	PFSK-1	brain:	n/a
34	chr9:94712472-94712522	NH-A	brain:	n/a
35	chr9:94712472-94712522	LNCaP	prostate:	n/a
36	chr9:94712472-94712522	T-47D	breast:	n/a
37	chr9:94712909-94712959	AG09309	skin:	n/a
38	chr9:94711818-94711868	Hela-S3	cervix:	n/a
39	chr9:94711647-94711697	MCF10A-Er-Src	breast:	n/a
40	chr9:94711818-94711868	PrEC	prostate:	n/a
41	chr9:94711647-94711697	HCF	heart:	n/a
42	chr9:94711818-94711868	HUVEC	blood vessel:	n/a
43	chr9:94712909-94712959	HRCEpiC	kidney:	n/a
44	chr9:94712472-94712522	HCM	heart:	n/a
45	chr9:94712472-94712522	MCF-7	breast:	n/a
46	chr9:94711647-94711697	ovcar-3	ovarian:	n/a
47	chr9:94711214-94711264	SK-N-MC	brain:	n/a
48	chr9:94712122-94712172	HCPEpiC	choroid plexus:	n/a
49	chr9:94712780-94712830	MCF10A-Er-Src	breast:	n/a
50	chr9:94712122-94712172	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:94537694..94538378-chr9:94712239..94713033,2	K562	blood:
2	chr9:94708854..94711565-chr9:94713620..94715763,2	MCF-7	breast:
3	chr9:94537481..94538450-chr9:94712230..94712819,2	MCF-7	breast:
4	chr9:94496411..94497072-chr9:94712544..94713048,2	MCF-7	breast:
5	chr9:94537447..94538880-chr9:94712081..94713098,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC1-6	chr9:94710889-94710997	NONHSAT133145
2	lnc-SPTLC1-6	chr9:94712149-94712188	NONHSAT133144

No data

Variant related genes	Relation type
ROR2	TF binding region
ROR2	CpG island
ENSG00000169071	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575126797	chr9:94710966-94710967	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs547048277	chr9:94710969-94710970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs564258579	chr9:94710995-94710996	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs3750440	chr9:94711016-94711017	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561985332	chr9:94711017-94711018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539566438	chr9:94711077-94711078	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557653509	chr9:94711082-94711083	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529580416	chr9:94711086-94711087	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551022583	chr9:94711094-94711095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563887478	chr9:94711105-94711106	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569451557	chr9:94711113-94711114	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533587526	chr9:94711139-94711140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373250360	chr9:94711143-94711144	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115807940	chr9:94711151-94711152	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570571160	chr9:94711156-94711157	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117620263	chr9:94711166-94711167	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552924438	chr9:94711175-94711176	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568000265	chr9:94711195-94711196	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146437104	chr9:94711203-94711204	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs111823595	chr9:94711300-94711301	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185016988	chr9:94711304-94711305	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376407917	chr9:94711335-94711336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs557786077	chr9:94711343-94711344	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573281364	chr9:94711345-94711346	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532934283	chr9:94711371-94711372	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188831358	chr9:94711410-94711411	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562096810	chr9:94711426-94711427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7038731	chr9:94711435-94711436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10120655	chr9:94711436-94711437	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs370294786	chr9:94711440-94711441	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs117356270	chr9:94711487-94711488	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563189486	chr9:94711492-94711493	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533524430	chr9:94711510-94711511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552007031	chr9:94711513-94711514	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567111388	chr9:94711516-94711517	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528175455	chr9:94711557-94711558	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192704128	chr9:94711561-94711562	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111256447	chr9:94711562-94711563	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535121812	chr9:94711580-94711581	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs556799084	chr9:94711592-94711593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7850309	chr9:94711649-94711650	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539393454	chr9:94711651-94711652	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs6479388	chr9:94711672-94711673	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546427954	chr9:94711685-94711686	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs540699160	chr9:94711738-94711739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370786022	chr9:94711743-94711744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373184460	chr9:94711775-94711776	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs573943832	chr9:94711814-94711815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7045603	chr9:94711931-94711932	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs139122017	chr9:94711949-94711950	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94709200-94713200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:94709800-94713200	Active TSS	Fetal Kidney	kidney
3	chr9:94710000-94712800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94710000-94712800	Active TSS	K562	blood
5	chr9:94710000-94714000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:94710200-94711000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr9:94710200-94713000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:94710200-94713200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94710200-94713200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:94710200-94713200	Active TSS	Colon Smooth Muscle	Colon
11	chr9:94710400-94711000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr9:94710400-94711000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:94710400-94711000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr9:94710400-94711000	Active TSS	Right Atrium	heart
15	chr9:94710400-94711200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:94710400-94711200	Active TSS	Fetal Heart	heart
17	chr9:94710400-94711200	Bivalent/Poised TSS	NHLF	lung
18	chr9:94710400-94711400	Bivalent/Poised TSS	Colonic Mucosa	Colon
19	chr9:94710400-94711800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr9:94710400-94711800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:94710400-94712000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr9:94710400-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr9:94710400-94712200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:94710400-94712200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:94710400-94712600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr9:94710400-94713000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:94710400-94713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:94710400-94713200	Active TSS	Fetal Lung	lung
29	chr9:94710400-94713400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr9:94710600-94711000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:94710600-94711000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:94710600-94711000	Flanking Active TSS	Gastric	stomach
33	chr9:94710600-94711000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr9:94710600-94711000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
35	chr9:94710600-94711200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:94710600-94711200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr9:94710600-94711800	Bivalent Enhancer	Liver	Liver
38	chr9:94710600-94711800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr9:94710600-94711800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr9:94710600-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr9:94710600-94712600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr9:94710600-94712800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:94710600-94712800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:94710600-94712800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:94710600-94713000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:94710600-94713200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr9:94710600-94713200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr9:94710600-94713200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr9:94710600-94713400	Active TSS	Ovary	ovary
50	chr9:94710800-94711000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links