Variant report

Variant	esv1841067
Chromosome Location	chr15:77323029-77332606
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	ARID3A	chr15:77324454-77324600	HepG2	liver:	n/a	n/a
2	BCL3	chr15:77326463-77328028	A549	lung:	n/a	n/a
3	BCL3	chr15:77326777-77327284	A549	lung:	n/a	n/a
4	BCL3	chr15:77327427-77328043	A549	lung:	n/a	n/a
5	BCL3	chr15:77325651-77326184	A549	lung:	n/a	n/a
6	BCL3	chr15:77325266-77325980	A549	lung:	n/a	n/a
7	BHLHE40	chr15:77327273-77327720	K562	blood:	n/a	chr15:77327366-77327387 chr15:77327372-77327381 chr15:77327370-77327383 chr15:77327371-77327380 chr15:77327372-77327381
8	BHLHE40	chr15:77323768-77323927	GM12878	blood:	n/a	n/a
9	CEBPB	chr15:77324292-77324502	HepG2	liver:	n/a	n/a
10	CEBPB	chr15:77330718-77330925	Hela-S3	cervix:	n/a	chr15:77330791-77330804
11	CEBPD	chr15:77324291-77324757	HepG2	liver:	n/a	n/a
12	CHD2	chr15:77323823-77323943	HepG2	liver:	n/a	n/a
13	CHD2	chr15:77327460-77327662	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr15:77327435-77327673	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr15:77327544-77327607	HepG2	liver:	n/a	n/a
16	CHD2	chr15:77324707-77324888	HepG2	liver:	n/a	n/a
17	CHD2	chr15:77323767-77324050	GM12878	blood:	n/a	n/a
18	CHD2	chr15:77329799-77329867	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr15:77326498-77326592	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr15:77327509-77327711	HepG2	liver:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
21	CTCF	chr15:77327380-77327530	HMEC	breast:	n/a	n/a
22	CTCF	chr15:77327421-77327771	H1-hESC	embryonic stem cell:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
23	CTCF	chr15:77323820-77323970	WERI-Rb-1	eye:	n/a	chr15:77323890-77323903
24	CTCF	chr15:77327478-77327746	A549	lung:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
25	CTCF	chr15:77323740-77323890	GM12868	blood:	n/a	n/a
26	CTCF	chr15:77323820-77323970	GM12875	blood:	n/a	chr15:77323890-77323903
27	CTCF	chr15:77327540-77327690	GM06990	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
28	CTCF	chr15:77323820-77323970	GM12865	blood:	n/a	chr15:77323890-77323903
29	CTCF	chr15:77327520-77327670	K562	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
30	CTCF	chr15:77327600-77327750	BJ	skin:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
31	CTCF	chr15:77327440-77327590	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr15:77327502-77327689	GM20000	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
33	CTCF	chr15:77323840-77323990	GM12875	blood:	n/a	chr15:77323890-77323903
34	CTCF	chr15:77327540-77327690	HCM	heart:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
35	CTCF	chr15:77323840-77323990	GM12865	blood:	n/a	chr15:77323890-77323903
36	CTCF	chr15:77323800-77323950	K562	blood:	n/a	chr15:77323890-77323903
37	CTCF	chr15:77327441-77327734	A549	lung:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
38	CTCF	chr15:77327520-77327670	A549	lung:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
39	CTCF	chr15:77327540-77327690	HPAF	blood vessel:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
40	CTCF	chr15:77327500-77327650	RPTEC	kidney:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
41	CTCF	chr15:77327520-77327670	GM12869	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
42	CTCF	chr15:77327520-77327670	GM12878	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
43	CTCF	chr15:77327500-77327650	HRPEpiC	eye:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
44	CTCF	chr15:77323781-77324024	GM19240	blood:	n/a	chr15:77323890-77323903
45	CTCF	chr15:77323764-77324028	HepG2	liver:	n/a	chr15:77323890-77323903
46	CTCF	chr15:77327540-77327690	GM12864	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
47	CTCF	chr15:77327540-77327690	HMEC	breast:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
48	CTCF	chr15:77327397-77327767	K562	blood:	n/a	chr15:77327607-77327620 chr15:77327618-77327634 chr15:77327606-77327627 chr15:77327604-77327622 chr15:77327605-77327621
49	CTCF	chr15:77323780-77323930	Hela-S3	cervix:	n/a	chr15:77323890-77323903
50	CTCF	chr15:77327460-77327610	HEEpiC	esophagus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77324607-77324657	HCPEpiC	choroid plexus:	n/a
2	chr15:77324607-77324657	HCPEpiC	choroid plexus:	n/a
3	chr15:77326735-77326785	ovcar-3	ovarian:	n/a
4	chr15:77324607-77324657	PrEC	prostate:	n/a
5	chr15:77323565-77323615	A549	lung:	n/a
6	chr15:77326735-77326785	Hela-S3	cervix:	n/a
7	chr15:77323565-77323615	HRPEpiC	eye:	n/a
8	chr15:77326735-77326785	Hepatocyte	liver:	n/a
9	chr15:77324758-77324808	Caco-2	colon:	n/a
10	chr15:77323565-77323615	ovcar-3	ovarian:	n/a
11	chr15:77327887-77327937	AG10803	skin:	n/a
12	chr15:77326735-77326785	NHBE	bronchial:	n/a
13	chr15:77327887-77327937	SK-N-SH_RA	brain:	n/a
14	chr15:77324607-77324657	MCF10A-Er-Src	breast:	n/a
15	chr15:77323565-77323615	NHBE	bronchial:	n/a
16	chr15:77324607-77324657	BE2_C	brain:	n/a
17	chr15:77324607-77324657	IMR90	lung:	fetal
18	chr15:77324526-77324576	NT2-D1	testis:	n/a
19	chr15:77326735-77326785	MCF10A-Er-Src	breast:	n/a
20	chr15:77324607-77324657	PANC-1	pancreas:	n/a
21	chr15:77326735-77326785	A549	lung:	n/a
22	chr15:77324607-77324657	GM12891	blood:	n/a
23	chr15:77323565-77323615	HRE	kidney:	n/a
24	chr15:77327887-77327937	PFSK-1	brain:	n/a
25	chr15:77324758-77324808	HIPEpiC	eye:	n/a
26	chr15:77323565-77323615	MCF10A-Er-Src	breast:	n/a
27	chr15:77323565-77323615	SKMC	muscle:	n/a
28	chr15:77327887-77327937	SK-N-SH	brain:	n/a
29	chr15:77326735-77326785	CMK	blood:	n/a
30	chr15:77324758-77324808	HRE	kidney:	n/a
31	chr15:77326735-77326785	SAEC	small airway:	n/a
32	chr15:77326735-77326785	GM19239	blood:	n/a
33	chr15:77324526-77324576	GM19239	blood:	n/a
34	chr15:77327887-77327937	GM12878	blood:	n/a
35	chr15:77323565-77323615	HUVEC	blood vessel:	n/a
36	chr15:77324526-77324576	HCPEpiC	choroid plexus:	n/a
37	chr15:77324751-77324801	GM19239	blood:	n/a
38	chr15:77327887-77327937	RPTEC	kidney:	n/a
39	chr15:77327887-77327937	BE2_C	brain:	n/a
40	chr15:77324758-77324808	ECC-1	luminal epithelium:	n/a
41	chr15:77323565-77323615	SK-N-MC	brain:	n/a
42	chr15:77324758-77324808	NB4	blood:	n/a
43	chr15:77323565-77323615	K562	blood:	n/a
44	chr15:77323565-77323615	Caco-2	colon:	n/a
45	chr15:77326735-77326785	BE2_C	brain:	n/a
46	chr15:77324607-77324657	LNCaP	prostate:	n/a
47	chr15:77324751-77324801	ProgFib	skin:	n/a
48	chr15:77324526-77324576	PANC-1	pancreas:	n/a
49	chr15:77326735-77326785	HCT-116	colon:	n/a
50	chr15:77323565-77323615	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77332598..77335104-chr15:77338074..77339723,2	MCF-7	breast:
2	chr15:77327656..77329511-chr15:77332033..77335172,3	K562	blood:
3	chr15:77328280..77330879-chr15:77355103..77356921,2	K562	blood:
4	chr15:77325493..77328166-chr15:77329882..77331634,3	MCF-7	breast:
5	chr15:77320639..77324428-chr15:77362244..77364696,3	K562	blood:
6	chr15:77327656..77330194-chr15:77332164..77335172,3	K562	blood:
7	chr15:77320466..77323005-chr15:77324460..77327682,3	MCF-7	breast:

Variant related genes	Relation type
PSTPIP1	TF binding region
ENSG00000259652	TF binding region
PSTPIP1	CpG island
ENSG00000259652	CpG island
ENSG00000140368	chromatin interactions
ENSG00000140391	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:585 , 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	rs12903227	chr15:77323029-77323030	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533671057	chr15:77323035-77323036	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530110553	chr15:77323043-77323044	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548900780	chr15:77323053-77323054	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191948287	chr15:77323091-77323092	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143948509	chr15:77323099-77323100	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531428108	chr15:77323125-77323126	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531150198	chr15:77323148-77323149	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113599218	chr15:77323178-77323179	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571003466	chr15:77323189-77323190	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534445257	chr15:77323210-77323211	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74025047	chr15:77323230-77323231	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567764739	chr15:77323233-77323234	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535038597	chr15:77323245-77323246	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557231824	chr15:77323246-77323247	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575417439	chr15:77323248-77323249	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185263091	chr15:77323250-77323251	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564867887	chr15:77323257-77323258	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188176145	chr15:77323267-77323268	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192774024	chr15:77323287-77323288	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541583620	chr15:77323299-77323300	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547034292	chr15:77323309-77323310	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531107972	chr15:77323315-77323316	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559835773	chr15:77323362-77323363	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142149106	chr15:77323367-77323368	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542209542	chr15:77323376-77323377	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs114248616	chr15:77323393-77323394	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531137475	chr15:77323407-77323408	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112022434	chr15:77323435-77323436	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564565151	chr15:77323439-77323440	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528659128	chr15:77323440-77323441	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527766714	chr15:77323449-77323450	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567776617	chr15:77323462-77323463	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201795289	chr15:77323471-77323472	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184445497	chr15:77323473-77323474	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529653444	chr15:77323474-77323475	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374959699	chr15:77323480-77323481	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568816115	chr15:77323483-77323484	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200752088	chr15:77323484-77323485	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558026848	chr15:77323492-77323493	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373179590	chr15:77323495-77323496	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200459219	chr15:77323508-77323509	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35677716	chr15:77323530-77323531	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139362350	chr15:77323535-77323536	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574957138	chr15:77323545-77323546	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542286074	chr15:77323565-77323566	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs121908130	chr15:77323566-77323567	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs374055726	chr15:77323571-77323572	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370307155	chr15:77323631-77323632	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567557614	chr15:77323650-77323651	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77308800-77327600	Weak transcription	Esophagus	oesophagus
2	chr15:77312200-77328400	Weak transcription	Aorta	Aorta
3	chr15:77313000-77327800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:77313400-77327200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:77314600-77328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:77314800-77330000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:77315000-77323400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:77315400-77323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:77315400-77330400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:77315400-77330600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:77316600-77323200	Weak transcription	Fetal Thymus	thymus
12	chr15:77316800-77323400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:77316800-77323400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:77316800-77327000	Weak transcription	Brain Substantia Nigra	brain
15	chr15:77316800-77327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:77316800-77327800	Weak transcription	GM12878-XiMat	blood
17	chr15:77316800-77330200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:77317400-77326200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:77317400-77329800	Strong transcription	Primary T cells from cord blood	blood
20	chr15:77317400-77330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:77317600-77323400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:77317600-77330400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:77318400-77350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:77319600-77327200	Weak transcription	Brain Angular Gyrus	brain
25	chr15:77320000-77323200	Weak transcription	Primary B cells from cord blood	blood
26	chr15:77320600-77323600	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr15:77320600-77325800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:77320800-77325200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:77321000-77323200	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:77321000-77323200	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr15:77321000-77323200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:77321000-77325600	Weak transcription	Right Atrium	heart
33	chr15:77321000-77328200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:77321000-77328200	Weak transcription	Right Ventricle	heart
35	chr15:77321000-77328600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:77321200-77324800	Weak transcription	Lung	lung
37	chr15:77321200-77325000	Weak transcription	Gastric	stomach
38	chr15:77321200-77325200	Genic enhancers	Spleen	Spleen
39	chr15:77321200-77326000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr15:77321200-77327200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:77321200-77328200	Weak transcription	Pancreas	Pancrea
42	chr15:77321200-77330200	Weak transcription	Brain Germinal Matrix	brain
43	chr15:77321200-77331000	Weak transcription	Fetal Brain Female	brain
44	chr15:77321200-77335400	Weak transcription	Left Ventricle	heart
45	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:77321400-77323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:77321400-77325600	Weak transcription	Adipose Nuclei	Adipose
48	chr15:77321800-77323200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:77321800-77323800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:77321800-77327200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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