Variant report

Variant	nsv555406
Chromosome Location	chr11:72281884-72336564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1729)
CpG islands
(count:1527)
Chromatin interactive
region (count:91)
LncRNA
region (count:4)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1729 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:72284676-72284736	K562	blood:	n/a	n/a
2	ARID3A	chr11:72284549-72284775	HepG2	liver:	n/a	n/a
3	ATF2	chr11:72300762-72301150	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:72295311-72295780	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:72315611-72315760	K562	blood:	n/a	n/a
6	BACH1	chr11:72284544-72284667	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr11:72335513-72336001	GM12878	blood:	n/a	n/a
8	BCL3	chr11:72282810-72283084	GM12878	blood:	n/a	n/a
9	BCL3	chr11:72335279-72336043	GM12878	blood:	n/a	n/a
10	BCL3	chr11:72282836-72283102	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:72284604-72284663	K562	blood:	n/a	n/a
12	BHLHE40	chr11:72284561-72284632	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:72335523-72335833	K562	blood:	n/a	n/a
14	BHLHE40	chr11:72325112-72325378	K562	blood:	n/a	n/a
15	BHLHE40	chr11:72310045-72310150	HepG2	liver:	n/a	n/a
16	BHLHE40	chr11:72309596-72309848	K562	blood:	n/a	n/a
17	BRCA1	chr11:72280907-72283068	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr11:72296650-72297056	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr11:72301932-72301968	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr11:72285948-72286013	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr11:72296781-72297014	HepG2	liver:	n/a	n/a
22	BRCA1	chr11:72284278-72284877	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr11:72300999-72301141	K562	blood:	n/a	n/a
24	CCNT2	chr11:72301344-72301706	K562	blood:	n/a	n/a
25	CCNT2	chr11:72297654-72297784	K562	blood:	n/a	chr11:72297713-72297733
26	CEBPB	chr11:72323419-72323727	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:72323405-72323699	A549	lung:	n/a	n/a
28	CEBPB	chr11:72310487-72310614	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr11:72302790-72303486	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:72280891-72282777	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr11:72323400-72323709	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr11:72323419-72323652	K562	blood:	n/a	n/a
33	CEBPB	chr11:72323410-72323721	K562	blood:	n/a	n/a
34	CEBPB	chr11:72323388-72323722	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:72296750-72297094	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:72300834-72300986	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr11:72284429-72285058	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr11:72323383-72323741	HepG2	liver:	n/a	n/a
39	CHD1	chr11:72306114-72306628	H1-hESC	embryonic stem cell:	n/a	chr11:72306467-72306477
40	CHD2	chr11:72296873-72297105	K562	blood:	n/a	n/a
41	CHD2	chr11:72306420-72306534	H1-hESC	embryonic stem cell:	n/a	chr11:72306467-72306477
42	CHD2	chr11:72300933-72300982	HepG2	liver:	n/a	n/a
43	CHD2	chr11:72296802-72296941	HepG2	liver:	n/a	n/a
44	CHD2	chr11:72300800-72301114	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr11:72284541-72284709	K562	blood:	n/a	n/a
46	CHD2	chr11:72302798-72303544	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr11:72286150-72286253	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr11:72310469-72310688	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr11:72284467-72284740	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr11:72325504-72325698	Hela-S3	cervix:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72301724-72301774	ovcar-3	ovarian:	n/a
2	chr11:72301924-72301974	AG10803	skin:	n/a
3	chr11:72301724-72301774	ovcar-3	ovarian:	n/a
4	chr11:72301924-72301974	AG10803	skin:	n/a
5	chr11:72292402-72292452	A549	lung:	n/a
6	chr11:72292402-72292452	GM12892	blood:	n/a
7	chr11:72326156-72326206	LNCaP	prostate:	n/a
8	chr11:72301235-72301285	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:72326156-72326206	HCPEpiC	choroid plexus:	n/a
10	chr11:72301235-72301285	NHBE	bronchial:	n/a
11	chr11:72301306-72301356	AoSMC	blood vessel:	n/a
12	chr11:72301924-72301974	ProgFib	skin:	n/a
13	chr11:72296138-72296188	PrEC	prostate:	n/a
14	chr11:72326156-72326206	CMK	blood:	n/a
15	chr11:72288270-72288320	HEEpiC	esophagus:	n/a
16	chr11:72296138-72296188	HNPCEpiC	eye:	n/a
17	chr11:72295425-72295475	LNCaP	prostate:	n/a
18	chr11:72292402-72292452	AG10803	skin:	n/a
19	chr11:72295716-72295766	PrEC	prostate:	n/a
20	chr11:72288270-72288320	MCF10A-Er-Src	breast:	n/a
21	chr11:72301558-72301608	SK-N-SH_RA	brain:	n/a
22	chr11:72297851-72297901	A549	lung:	n/a
23	chr11:72295168-72295218	HEK293	kidney:	embryo
24	chr11:72305346-72305396	HEK293	kidney:	embryo
25	chr11:72301724-72301774	PANC-1	pancreas:	n/a
26	chr11:72305346-72305396	RPTEC	kidney:	n/a
27	chr11:72295425-72295475	HEK293	kidney:	embryo
28	chr11:72327807-72327857	BJ	skin:	n/a
29	chr11:72301558-72301608	MCF10A-Er-Src	breast:	n/a
30	chr11:72292402-72292452	RPTEC	kidney:	n/a
31	chr11:72295425-72295475	PANC-1	pancreas:	n/a
32	chr11:72305989-72306039	AoSMC	blood vessel:	n/a
33	chr11:72326156-72326206	T-47D	breast:	n/a
34	chr11:72326156-72326206	NHBE	bronchial:	n/a
35	chr11:72327807-72327857	NHDF-neo	bronchial:	n/a
36	chr11:72297851-72297901	HCPEpiC	choroid plexus:	n/a
37	chr11:72301558-72301608	PFSK-1	brain:	n/a
38	chr11:72301306-72301356	AG04450	lung:	fetal
39	chr11:72327807-72327857	BE2_C	brain:	n/a
40	chr11:72295716-72295766	HCPEpiC	choroid plexus:	n/a
41	chr11:72295535-72295585	SK-N-SH	brain:	n/a
42	chr11:72295535-72295585	PFSK-1	brain:	n/a
43	chr11:72305346-72305396	HCPEpiC	choroid plexus:	n/a
44	chr11:72326842-72326892	HMEC	breast:	n/a
45	chr11:72298299-72298349	U87	brain:	n/a
46	chr11:72327160-72327210	ECC-1	luminal epithelium:	n/a
47	chr11:72326830-72326880	ECC-1	luminal epithelium:	n/a
48	chr11:72293698-72293748	PFSK-1	brain:	n/a
49	chr11:72295425-72295475	CMK	blood:	n/a
50	chr11:72292402-72292452	HRE	kidney:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:72313216..72314795-chr11:72323736..72325517,2	K562	blood:
2	chr11:72296471..72297070-chr9:124082115..124083042,2	MCF-7	breast:
3	chr11:72296845..72297348-chr11:72435939..72436594,2	MCF-7	breast:
4	chr11:72315461..72317278-chr11:72318771..72321876,3	K562	blood:
5	chr11:72296290..72298489-chr11:72299614..72302412,2	MCF-7	breast:
6	chr11:72300647..72303115-chr11:72315486..72318299,2	MCF-7	breast:
7	chr11:72300453..72301777-chr11:72353784..72354737,6	K562	blood:
8	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:
9	chr11:72294789..72296496-chr11:72299692..72301673,2	MCF-7	breast:
10	chr11:72332869..72335160-chr11:72338112..72340780,2	K562	blood:
11	chr11:72300205..72303024-chr11:72304171..72306165,2	MCF-7	breast:
12	chr11:72308196..72310111-chr11:72350959..72352581,2	MCF-7	breast:
13	chr11:72296502..72297376-chr11:72395958..72396520,2	MCF-7	breast:
14	chr11:72310686..72313140-chr11:72320651..72322680,2	K562	blood:
15	chr11:72284098..72284598-chr19:1028717..1029376,2	Hela-S3	cervix:
16	chr11:72315461..72317278-chr11:72318771..72321876,3	K562	blood:
17	chr11:72309624..72310516-chr11:72353748..72354671,8	MCF-7	breast:
18	chr11:72325568..72327953-chr11:72330233..72332258,3	K562	blood:
19	chr11:72286820..72288399-chr11:72288594..72291331,2	K562	blood:
20	chr11:72300430..72301672-chr11:72353759..72354743,12	MCF-7	breast:
21	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:
22	chr11:72301882..72302760-chr11:72394504..72395418,2	MCF-7	breast:
23	chr11:72296725..72297374-chr11:72354165..72354741,3	MCF-7	breast:
24	chr11:72300551..72301398-chr11:72353784..72354837,3	MCF-7	breast:
25	chr11:72309672..72310907-chr11:72353574..72354733,7	K562	blood:
26	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:
27	chr11:72310686..72313140-chr11:72320651..72322680,2	K562	blood:
28	chr11:72309680..72310674-chr11:72324664..72325164,2	MCF-7	breast:
29	chr11:72321761..72324145-chr11:72337508..72339149,2	K562	blood:
30	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
31	chr11:72309680..72310674-chr11:72324664..72325164,2	MCF-7	breast:
32	chr11:72311450..72313060-chr11:72334269..72335781,2	K562	blood:
33	chr11:72313216..72314795-chr11:72323736..72325517,2	K562	blood:
34	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:
35	chr11:72192993..72193929-chr11:72284110..72285074,4	MCF-7	breast:
36	chr11:72311450..72313060-chr11:72334269..72335781,2	K562	blood:
37	chr11:72193243..72193909-chr11:72319827..72320926,3	K562	blood:
38	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
39	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
40	chr11:72296447..72297845-chr11:72353504..72354713,7	K562	blood:
41	chr11:72296428..72297428-chr11:72319819..72320660,3	K562	blood:
42	chr11:72287726..72290086-chr11:72293581..72295527,2	K562	blood:
43	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:
44	chr11:72192764..72194156-chr11:72284059..72285108,15	MCF-7	breast:
45	chr11:72182308..72182988-chr11:72320289..72320813,2	MCF-7	breast:
46	chr11:72310603..72311371-chr11:72394905..72395850,2	MCF-7	breast:
47	chr11:72283857..72286700-chr11:72287444..72290426,4	MCF-7	breast:
48	chr11:72290299..72292837-chr11:72306814..72308929,2	K562	blood:
49	chr11:72193046..72193884-chr11:72309762..72310630,2	K562	blood:
50	chr11:72326146..72327953-chr11:72330233..72332676,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARAP1-2	chr11:72307637-72307670	NONHSAT022779
2	lnc-ATG16L2-6	chr11:72282072-72284273	ENSG00000227467
3	lnc-ATG16L2-6	chr11:72281704-72281951	ENSG00000227467
4	lnc-ARAP1-2	chr11:72301977-72302400	NONHSAT022779

miRNA name	Chromosome Location	mirBase accession
hsa-miR-139-3p	chr11:72326110-72326132	MIMAT0004552
hsa-miR-139-5p	chr11:72326146-72326168	MIMAT0000250

No data

Variant related genes	Relation type
PDE2A	TF binding region
RNU7-105P	TF binding region
ENSG00000256633	TF binding region
MIR139	TF binding region
PDE2A	CpG island
RNU7-105P	CpG island
ENSG00000256633	CpG island
MIR139	CpG island
ENSG00000272036	chromatin interactions
ENSG00000255808	chromatin interactions
ENSG00000186642	chromatin interactions
ENSG00000229750	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000215973	chromatin interactions
ENSG00000251919	chromatin interactions
ENSG00000256007	chromatin interactions
ENSG00000256633	chromatin interactions
ENSG00000134905	chromatin interactions
RPS26	Mature miRNA region
TGS1	Mature miRNA region
IGF1R	Mature miRNA region
FOS	Mature miRNA region
MTDH	Mature miRNA region

Extended variants
information (count: 2246 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2246 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs433640	chr11:72281884-72281885	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576896030	chr11:72281888-72281889	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs79982683	chr11:72281941-72281942	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs140095732	chr11:72282000-72282001	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs409512	chr11:72282039-72282040	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552735601	chr11:72282074-72282075	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs538339009	chr11:72282122-72282123	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550219144	chr11:72282140-72282141	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs371168572	chr11:72282147-72282148	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559904209	chr11:72282185-72282186	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371477910	chr11:72282208-72282209	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs536212935	chr11:72282282-72282283	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs554281574	chr11:72282315-72282316	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs80217555	chr11:72282328-72282329	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs535367932	chr11:72282366-72282367	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs553599951	chr11:72282399-72282400	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs578234859	chr11:72282435-72282436	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs387354	chr11:72282446-72282447	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557401063	chr11:72282535-72282536	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs149867384	chr11:72282603-72282604	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs542993490	chr11:72282615-72282616	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs561156953	chr11:72282640-72282641	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs144887725	chr11:72282643-72282644	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs181921039	chr11:72282669-72282670	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs533399935	chr11:72282678-72282679	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs58489463	chr11:72282689-72282690	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs532125834	chr11:72282690-72282691	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs550522555	chr11:72282704-72282705	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs141475606	chr11:72282711-72282712	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs529783266	chr11:72282724-72282725	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs145150866	chr11:72282793-72282794	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs184504287	chr11:72282821-72282822	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs426117	chr11:72282825-72282826	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553658026	chr11:72282872-72282873	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs189030485	chr11:72282913-72282914	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs10898852	chr11:72282924-72282925	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138981121	chr11:72282961-72282962	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs140646692	chr11:72282974-72282975	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs181342706	chr11:72283037-72283038	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs143722416	chr11:72283046-72283047	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs372008874	chr11:72283055-72283056	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112917977	chr11:72283074-72283075	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs77966625	chr11:72283075-72283076	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs398115497	chr11:72283083-72283084	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs58362405	chr11:72283084-72283085	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139911531	chr11:72283085-72283086	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs149722988	chr11:72283086-72283087	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs190180799	chr11:72283088-72283089	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs148101612	chr11:72283097-72283098	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs181730317	chr11:72283172-72283173	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72273600-72282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72276400-72287800	Weak transcription	Fetal Brain Female	brain
4	chr11:72279400-72282400	Enhancers	Placenta	Placenta
5	chr11:72279800-72282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:72280000-72282400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:72280000-72282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:72280000-72283000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:72280000-72283000	Enhancers	HMEC	breast
10	chr11:72280000-72283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:72280000-72283800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:72280200-72282000	Enhancers	Osteobl	bone
13	chr11:72280200-72282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:72280200-72282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:72280400-72282000	Enhancers	NH-A	brain
16	chr11:72280400-72282200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:72280400-72284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:72280800-72283000	Flanking Active TSS	Hela-S3	cervix
19	chr11:72281000-72283200	Enhancers	Fetal Intestine Large	intestine
20	chr11:72281400-72282200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:72281400-72287400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:72281600-72282000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:72281600-72282200	Flanking Active TSS	HSMM	muscle
24	chr11:72281600-72282800	Enhancers	Spleen	Spleen
25	chr11:72281600-72283000	Enhancers	NHEK	skin
26	chr11:72281600-72284600	Weak transcription	HSMMtube	muscle
27	chr11:72281600-72287400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:72281800-72282200	Weak transcription	Fetal Intestine Small	intestine
29	chr11:72281800-72282200	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:72281800-72282200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:72281800-72283000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:72281800-72284800	Weak transcription	Brain Anterior Caudate	brain
33	chr11:72282000-72282400	Enhancers	Right Ventricle	heart
34	chr11:72282000-72284400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:72282200-72282400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr11:72282200-72282400	Enhancers	Fetal Intestine Small	intestine
37	chr11:72282200-72282400	Active TSS	HSMM	muscle
38	chr11:72282200-72282800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:72282200-72282800	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr11:72282400-72282600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:72282400-72282600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72282400-72282600	Bivalent Enhancer	Lung	lung
43	chr11:72282400-72282800	Flanking Active TSS	HSMM	muscle
44	chr11:72282400-72283000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr11:72282400-72283600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:72282400-72284600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:72282400-72287600	Weak transcription	Right Ventricle	heart
48	chr11:72282600-72282800	Enhancers	Gastric	stomach
49	chr11:72282600-72282800	Enhancers	Left Ventricle	heart
50	chr11:72282600-72284600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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