Variant report

Variant	esv3405891
Chromosome Location	chr11:64479801-64482349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:64479115-64481072	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:64481362-64481497	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr11:64480955-64481038	K562	blood:	n/a	n/a
4	CEBPB	chr11:64480607-64480757	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr11:64481531-64481533	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:64480711-64480830	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:64481582-64481676	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:64480935-64481005	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:64480580-64480730	SAEC	small airway:	n/a	n/a
10	E2F6	chr11:64480169-64480372	K562	blood:	n/a	chr11:64480230-64480240
11	E2F6	chr11:64480631-64481123	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr11:64480448-64481115	H1-hESC	embryonic stem cell:	n/a	chr11:64480454-64480466
13	E2F6	chr11:64480777-64481089	K562	blood:	n/a	n/a
14	E2F6	chr11:64478511-64479806	H1-hESC	embryonic stem cell:	n/a	chr11:64479499-64479511 chr11:64478862-64478871 chr11:64479498-64479509
15	EGR1	chr11:64480164-64480347	K562	blood:	n/a	chr11:64480235-64480249 chr11:64480248-64480258 chr11:64480235-64480250 chr11:64480236-64480249 chr11:64480247-64480257 chr11:64480236-64480249 chr11:64480234-64480244
16	EGR1	chr11:64480046-64480390	K562	blood:	n/a	chr11:64480235-64480249 chr11:64480248-64480258 chr11:64480337-64480350 chr11:64480235-64480250 chr11:64480236-64480249 chr11:64480247-64480257 chr11:64480236-64480249 chr11:64480234-64480244
17	EP300	chr11:64481183-64481558	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr11:64480724-64481581	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr11:64480912-64481475	H1-hESC	embryonic stem cell:	n/a	n/a
20	GABPA	chr11:64480345-64480799	H1-hESC	embryonic stem cell:	n/a	chr11:64480401-64480410
21	HMGN3	chr11:64480332-64480343	K562	blood:	n/a	n/a
22	HMGN3	chr11:64480944-64480955	K562	blood:	n/a	n/a
23	IRF1	chr11:64479828-64480322	K562	blood:	n/a	chr11:64480231-64480245 chr11:64480244-64480258 chr11:64480038-64480052 chr11:64480006-64480020
24	MAX	chr11:64480611-64481190	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr11:64480666-64481103	A549	lung:	n/a	n/a
26	MAX	chr11:64479607-64479942	K562	blood:	n/a	n/a
27	MAX	chr11:64480771-64480984	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr11:64480816-64481008	A549	lung:	n/a	n/a
29	MAX	chr11:64480020-64480458	K562	blood:	n/a	chr11:64480234-64480244 chr11:64480247-64480257
30	MAX	chr11:64480587-64481250	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr11:64480682-64481112	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr11:64480593-64481175	A549	lung:	n/a	n/a
33	MAX	chr11:64480534-64481152	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr11:64480730-64481109	K562	blood:	n/a	n/a
35	MAX	chr11:64479197-64479942	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr11:64480744-64480863	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr11:64481295-64481983	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
38	REST	chr11:64481594-64481827	K562	blood:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
39	REST	chr11:64481481-64482087	HL-60	blood:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
40	REST	chr11:64481291-64482004	A549	lung:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
41	REST	chr11:64481462-64481967	ECC-1	luminal epithelium:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
42	REST	chr11:64481585-64481840	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
43	REST	chr11:64481332-64481905	PANC-1	pancreas:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
44	REST	chr11:64481456-64481950	PFSK-1	brain:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
45	REST	chr11:64480747-64480983	PANC-1	pancreas:	n/a	n/a
46	REST	chr11:64481344-64481940	H1-hESC	embryonic stem cell:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
47	REST	chr11:64481598-64481844	SK-N-SH	brain:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
48	REST	chr11:64481541-64481906	A549	lung:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
49	REST	chr11:64481606-64481800	SK-N-SH	brain:	n/a	chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749
50	REST	chr11:64481506-64481874	Hela-S3	cervix:	n/a	chr11:64481592-64481612 chr11:64481729-64481749 chr11:64481733-64481746 chr11:64481743-64481751 chr11:64481729-64481749

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64480312-64480362	T-47D	breast:	n/a
2	chr11:64481018-64481068	T-47D	breast:	n/a
3	chr11:64480683-64480733	AG09319	gingival:	n/a
4	chr11:64480683-64480733	BE2_C	brain:	n/a
5	chr11:64482332-64482382	U87	brain:	n/a
6	chr11:64482332-64482382	AG04450	lung:	fetal
7	chr11:64481018-64481068	ovcar-3	ovarian:	n/a
8	chr11:64481018-64481068	HRE	kidney:	n/a
9	chr11:64480312-64480362	PFSK-1	brain:	n/a
10	chr11:64481257-64481307	GM19239	blood:	n/a
11	chr11:64480683-64480733	Caco-2	colon:	n/a
12	chr11:64481257-64481307	BJ	skin:	n/a
13	chr11:64480312-64480362	SKMC	muscle:	n/a
14	chr11:64481018-64481068	HCF	heart:	n/a
15	chr11:64481257-64481307	SK-N-SH	brain:	n/a
16	chr11:64482332-64482382	Jurkat	blood:	n/a
17	chr11:64481018-64481068	HMEC	breast:	n/a
18	chr11:64482332-64482382	GM12891	blood:	n/a
19	chr11:64480312-64480362	HMEC	breast:	n/a
20	chr11:64481257-64481307	NHDF-neo	bronchial:	n/a
21	chr11:64480683-64480733	HIPEpiC	eye:	n/a
22	chr11:64480312-64480362	NT2-D1	testis:	n/a
23	chr11:64482332-64482382	K562	blood:	n/a
24	chr11:64480312-64480362	Hepatocyte	liver:	n/a
25	chr11:64481018-64481068	HNPCEpiC	eye:	n/a
26	chr11:64480312-64480362	AG09309	skin:	n/a
27	chr11:64481257-64481307	Hela-S3	cervix:	n/a
28	chr11:64480683-64480733	RPTEC	kidney:	n/a
29	chr11:64481257-64481307	HRCEpiC	kidney:	n/a
30	chr11:64481018-64481068	AG09319	gingival:	n/a
31	chr11:64481018-64481068	U87	brain:	n/a
32	chr11:64481018-64481068	SKMC	muscle:	n/a
33	chr11:64480312-64480362	AG04449	skin:	fetal
34	chr11:64482332-64482382	BE2_C	brain:	n/a
35	chr11:64480312-64480362	K562	blood:	n/a
36	chr11:64482332-64482382	CMK	blood:	n/a
37	chr11:64482332-64482382	HAEpiC	amniotic membrane:	n/a
38	chr11:64481257-64481307	GM12892	blood:	n/a
39	chr11:64480312-64480362	MCF10A-Er-Src	breast:	n/a
40	chr11:64482332-64482382	HCM	heart:	n/a
41	chr11:64481018-64481068	IMR90	lung:	fetal
42	chr11:64480312-64480362	SK-N-MC	brain:	n/a
43	chr11:64481257-64481307	GM12891	blood:	n/a
44	chr11:64480312-64480362	Jurkat	blood:	n/a
45	chr11:64481018-64481068	HL-60	blood:	n/a
46	chr11:64481257-64481307	HEEpiC	esophagus:	n/a
47	chr11:64481018-64481068	PFSK-1	brain:	n/a
48	chr11:64482332-64482382	PrEC	prostate:	n/a
49	chr11:64481257-64481307	SK-N-SH_RA	brain:	n/a
50	chr11:64482332-64482382	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64478235..64481230-chr11:64481654..64484135,2	K562	blood:
2	chr11:64478005..64481824-chr11:64534394..64538447,4	K562	blood:
3	chr11:64482137..64483655-chr11:64489637..64491593,2	MCF-7	breast:
4	chr11:64478255..64481463-chr11:64489766..64492365,3	K562	blood:
5	chr11:64480253..64481992-chr11:64507131..64509338,2	K562	blood:
6	chr11:64465967..64468821-chr11:64481900..64483746,2	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
NRXN2	CpG island
ENSG00000068831	chromatin interactions
ENSG00000110076	chromatin interactions
ENSG00000168066	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114803931	chr11:64479803-64479804	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566104033	chr11:64479887-64479888	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539123322	chr11:64479940-64479941	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12099363	chr11:64479981-64479982	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535241942	chr11:64479987-64479988	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554320594	chr11:64480048-64480049	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559023349	chr11:64480054-64480055	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574483639	chr11:64480080-64480081	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543430818	chr11:64480084-64480085	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557044458	chr11:64480163-64480164	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577189311	chr11:64480165-64480166	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546153815	chr11:64480214-64480215	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2666560	chr11:64480308-64480309	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs149857020	chr11:64480310-64480311	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs542013175	chr11:64480319-64480320	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs71579900	chr11:64480359-64480360	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs530255632	chr11:64480473-64480474	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs2518907	chr11:64480641-64480642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs199786530	chr11:64480711-64480712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs370521049	chr11:64480796-64480797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200558486	chr11:64480916-64480917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs12293481	chr11:64480926-64480927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs12273892	chr11:64480930-64480931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs566365476	chr11:64480966-64480967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200025059	chr11:64480977-64480978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs367974942	chr11:64481013-64481014	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs568060819	chr11:64481015-64481016	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs537171549	chr11:64481134-64481135	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs182094574	chr11:64481142-64481143	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs556981157	chr11:64481216-64481217	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs576873146	chr11:64481285-64481286	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs539465074	chr11:64481392-64481393	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs185388072	chr11:64481438-64481439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs552947835	chr11:64481448-64481449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573103909	chr11:64481540-64481541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541651391	chr11:64481547-64481548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs2666558	chr11:64481579-64481580	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs574574473	chr11:64481588-64481589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs190895976	chr11:64481591-64481592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs534987118	chr11:64481685-64481686	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs559912982	chr11:64481686-64481687	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs183145403	chr11:64481687-64481688	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs200234947	chr11:64481688-64481689	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs200419970	chr11:64481689-64481690	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs563461159	chr11:64481727-64481728	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532325966	chr11:64481754-64481755	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs552161723	chr11:64481788-64481789	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs559785556	chr11:64481814-64481815	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs183317059	chr11:64481860-64481861	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548475424	chr11:64481864-64481865	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64477800-64481600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:64478000-64480000	Enhancers	Brain Anterior Caudate	brain
3	chr11:64478000-64480200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr11:64478000-64480800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:64478000-64480800	Weak transcription	Right Atrium	heart
6	chr11:64478000-64481000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:64478200-64480200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:64478200-64480200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr11:64478200-64480400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr11:64478200-64481000	Enhancers	Gastric	stomach
11	chr11:64478400-64480200	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr11:64478400-64480400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:64478400-64480400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr11:64478400-64480600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:64478400-64480600	Bivalent Enhancer	Spleen	Spleen
16	chr11:64478600-64480200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr11:64478600-64480200	Enhancers	Lung	lung
18	chr11:64478600-64480800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr11:64478600-64481600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr11:64478800-64480000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:64478800-64481600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:64478800-64481600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:64479000-64480200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:64479000-64480600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:64479000-64480800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr11:64479000-64481000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:64479200-64480000	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr11:64479200-64480200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:64479200-64480600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr11:64479200-64480600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:64479400-64480000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
32	chr11:64479400-64480200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr11:64479400-64480400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:64479400-64480400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:64479400-64481000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:64479400-64481000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:64479600-64480000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
38	chr11:64479600-64480000	Flanking Active TSS	K562	blood
39	chr11:64479600-64480200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr11:64479600-64480200	Bivalent Enhancer	Placenta	Placenta
41	chr11:64479600-64480400	Weak transcription	Pancreas	Pancrea
42	chr11:64479600-64480800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr11:64479600-64481800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr11:64479800-64480000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:64479800-64480000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:64479800-64480000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:64479800-64480000	Bivalent Enhancer	Esophagus	oesophagus
48	chr11:64479800-64480000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr11:64479800-64480200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64479800-64480200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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