Variant report

Variant	rs587625226
Chromosome Location	chr15:83316245-83316246
allele	C/T
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	CTCF	chr15:83316220-83316370	GM12871	blood:	n/a	n/a
2	SIN3AK20	chr15:83315964-83316927	PANC-1	pancreas:	n/a	n/a
3	ZNF384	chr15:83316162-83316663	K562	blood:	n/a	n/a
4	MAX	chr15:83315788-83316401	H1-hESC	embryonic stem cell:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
5	RCOR1	chr15:83315903-83316579	K562	blood:	n/a	n/a
6	MAZ	chr15:83314805-83317083	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
7	TCF7L2	chr15:83316142-83316592	PANC-1	pancreas:	n/a	n/a
8	MAX	chr15:83316043-83316696	MCF-7	breast:	n/a	chr15:83316463-83316472 chr15:83316449-83316458 chr15:83316462-83316473
9	E2F6	chr15:83315572-83317593	H1-hESC	embryonic stem cell:	n/a	chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83316377-83316384
10	MAX	chr15:83315573-83316982	A549	lung:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
11	CTCF	chr15:83316180-83316330	HCFaa	heart:	n/a	n/a
12	SP1	chr15:83315977-83316635	K562	blood:	n/a	chr15:83316476-83316485 chr15:83316500-83316509 chr15:83316415-83316429 chr15:83316415-83316424 chr15:83316499-83316508 chr15:83316498-83316510
13	CTCFL	chr15:83316044-83316419	K562	blood:	n/a	chr15:83316191-83316200
14	MAX	chr15:83315290-83316854	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
15	ZNF143	chr15:83316225-83316425	GM12878	blood:	n/a	chr15:83316262-83316272
16	CTCF	chr15:83316100-83316250	HEK293	kidney:	n/a	n/a
17	USF1	chr15:83315850-83316685	H1-hESC	embryonic stem cell:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
18	POLR2A	chr15:83315988-83316392	K562	blood:	n/a	n/a
19	CTCF	chr15:83316133-83316306	K562	blood:	n/a	n/a
20	CTCF	chr15:83316160-83316310	AG04450	lung:	n/a	n/a
21	TBL1XR1	chr15:83316136-83316538	K562	blood:	n/a	n/a
22	POLR2A	chr15:83316198-83316834	A549	lung:	n/a	n/a
23	CTCF	chr15:83316180-83316330	HCPEpiC	choroid plexus:	n/a	n/a
24	MAX	chr15:83315375-83317625	H1-hESC	embryonic stem cell:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
25	CTCF	chr15:83316200-83316350	SAEC	small airway:	n/a	n/a
26	CTCF	chr15:83315947-83316667	A549	lung:	n/a	n/a
27	CTCF	chr15:83316180-83316330	GM12875	blood:	n/a	n/a
28	CTCF	chr15:83316131-83316308	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:83316132-83316260	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:83316140-83316290	SK-N-SH_RA	brain:	n/a	n/a
31	POLR2A	chr15:83316026-83316828	K562	blood:	n/a	n/a
32	MAX	chr15:83315736-83316717	ECC-1	luminal epithelium:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
33	RAD21	chr15:83316069-83316445	K562	blood:	n/a	chr15:83316362-83316375
34	POLR2A	chr15:83316074-83316818	K562	blood:	n/a	n/a
35	USF1	chr15:83315801-83316657	SK-N-SH_RA	brain:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
36	USF1	chr15:83315857-83316245	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:83316087-83316862	U87	brain:	n/a	n/a
38	CTCF	chr15:83316160-83316310	GM12874	blood:	n/a	n/a
39	POLR2A	chr15:83314860-83316964	K562	blood:	n/a	n/a
40	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
41	CTCF	chr15:83316140-83316290	AoAF	blood vessel:	n/a	n/a
42	POLR2A	chr15:83314902-83316627	K562	blood:	n/a	n/a
43	E2F6	chr15:83315648-83316822	A549	lung:	n/a	chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83316377-83316384
44	USF1	chr15:83315815-83316560	A549	lung:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
45	MYC	chr15:83316055-83317166	A549	lung:	n/a	chr15:83316463-83316472 chr15:83316449-83316458 chr15:83316462-83316473
46	CTCF	chr15:83316160-83316310	A549	lung:	n/a	n/a
47	CTCF	chr15:83316118-83316272	MCF-7	breast:	n/a	n/a
48	E2F6	chr15:83315690-83316821	K562	blood:	n/a	chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83316377-83316384
49	ZC3H11A	chr15:83316124-83316420	K562	blood:	n/a	n/a
50	USF1	chr15:83315831-83316697	SK-N-SH	brain:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83316223-83316273	AG10803	skin:	n/a
2	chr15:83316223-83316273	K562	blood:	n/a
3	chr15:83316223-83316273	HPAEpiC	pulmonary alveolar:	n/a
4	chr15:83316223-83316273	HCF	heart:	n/a
5	chr15:83316223-83316273	HEEpiC	esophagus:	n/a
6	chr15:83316223-83316273	HMEC	breast:	n/a
7	chr15:83316223-83316273	HepG2	liver:	n/a
8	chr15:83316223-83316273	U87	brain:	n/a
9	chr15:83316223-83316273	SAEC	small airway:	n/a
10	chr15:83316223-83316273	PFSK-1	brain:	n/a
11	chr15:83316223-83316273	H1-hESC	embryonic stem cell:	embryo
12	chr15:83316223-83316273	HRCEpiC	kidney:	n/a
13	chr15:83316223-83316273	HNPCEpiC	eye:	n/a
14	chr15:83316223-83316273	GM12892	blood:	n/a
15	chr15:83316223-83316273	LNCaP	prostate:	n/a
16	chr15:83316223-83316273	GM12878	blood:	n/a
17	chr15:83316223-83316273	HIPEpiC	eye:	n/a
18	chr15:83316223-83316273	HRE	kidney:	n/a
19	chr15:83316223-83316273	CMK	blood:	n/a
20	chr15:83316223-83316273	IMR90	lung:	fetal
21	chr15:83316223-83316273	NHBE	bronchial:	n/a
22	chr15:83316223-83316273	PrEC	prostate:	n/a
23	chr15:83316223-83316273	AG04450	lung:	fetal
24	chr15:83316223-83316273	AG04449	skin:	fetal
25	chr15:83316223-83316273	HCM	heart:	n/a
26	chr15:83316223-83316273	BJ	skin:	n/a
27	chr15:83316223-83316273	NH-A	brain:	n/a
28	chr15:83316223-83316273	GM06990	blood:	n/a
29	chr15:83316223-83316273	NT2-D1	testis:	n/a
30	chr15:83316223-83316273	A549	lung:	n/a
31	chr15:83316223-83316273	ovcar-3	ovarian:	n/a
32	chr15:83316223-83316273	PANC-1	pancreas:	n/a
33	chr15:83316223-83316273	HCT-116	colon:	n/a
34	chr15:83316223-83316273	HAEpiC	amniotic membrane:	n/a
35	chr15:83316223-83316273	GM19239	blood:	n/a
36	chr15:83316223-83316273	HUVEC	blood vessel:	n/a
37	chr15:83316223-83316273	RPTEC	kidney:	n/a
38	chr15:83316223-83316273	NHDF-neo	bronchial:	n/a
39	chr15:83316223-83316273	MCF-7	breast:	n/a
40	chr15:83316223-83316273	HCPEpiC	choroid plexus:	n/a
41	chr15:83316223-83316273	MCF10A-Er-Src	breast:	n/a
42	chr15:83316223-83316273	HRPEpiC	eye:	n/a
43	chr15:83316223-83316273	NB4	blood:	n/a
44	chr15:83316223-83316273	SK-N-SH_RA	brain:	n/a
45	chr15:83316223-83316273	Jurkat	blood:	n/a
46	chr15:83316223-83316273	AG09309	skin:	n/a
47	chr15:83316223-83316273	SKMC	muscle:	n/a
48	chr15:83316223-83316273	SK-N-MC	brain:	n/a
49	chr15:83316223-83316273	HL-60	blood:	n/a
50	chr15:83316223-83316273	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
2	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
3	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
4	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
5	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
6	chr15:83316099..83317759-chr15:83406962..83409710,2	K562	blood:
7	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
8	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
9	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
10	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:

Variant related genes	Relation type
CPEB1	TF binding region
ENSG00000259462	TF binding region
CPEB1	CpG island
ENSG00000259462	CpG island
ENSG00000156232	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3344877	chr15:83294946-83316565	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv33057	chr15:83314833-83317588	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3360562	chr15:83315522-83318070	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:83315000-83316400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:83315000-83317200	Active TSS	Brain Substantia Nigra	brain
7	chr15:83315000-83317200	Active TSS	Right Atrium	heart
8	chr15:83315000-83317200	Bivalent/Poised TSS	NHLF	lung
9	chr15:83315000-83317400	Active TSS	Brain Angular Gyrus	brain
10	chr15:83315000-83317400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr15:83315000-83317400	Bivalent Enhancer	Placenta	Placenta
12	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:83315200-83316400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:83315200-83316400	Flanking Active TSS	Ovary	ovary
15	chr15:83315200-83317000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr15:83315200-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:83315400-83316400	Bivalent Enhancer	Spleen	Spleen
18	chr15:83315400-83316600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:83315400-83316800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr15:83315400-83317200	Bivalent Enhancer	Liver	Liver
21	chr15:83315400-83317200	Bivalent/Poised TSS	NHEK	skin
22	chr15:83315400-83317400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:83315600-83316400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:83315600-83316400	Bivalent Enhancer	Small Intestine	intestine
25	chr15:83315600-83316600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
26	chr15:83315600-83316600	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr15:83315600-83317000	Enhancers	Fetal Heart	heart
28	chr15:83315600-83317200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr15:83315600-83317400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr15:83315600-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:83315800-83316400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:83315800-83316400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr15:83315800-83316600	Bivalent/Poised TSS	NH-A	brain
34	chr15:83315800-83316800	Active TSS	Brain Cingulate Gyrus	brain
35	chr15:83315800-83316800	Flanking Bivalent TSS/Enh	HMEC	breast
36	chr15:83315800-83317200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:83315800-83317200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:83315800-83317200	Bivalent Enhancer	Fetal Thymus	thymus
39	chr15:83315800-83317200	Active TSS	NHDF-Ad	bronchial
40	chr15:83315800-83317400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:83315800-83317400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr15:83315800-83317400	Flanking Active TSS	Right Ventricle	heart
43	chr15:83315800-83317400	Bivalent/Poised TSS	HSMMtube	muscle
44	chr15:83315800-83317600	Enhancers	Lung	lung
45	chr15:83316000-83316400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:83316000-83316400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:83316000-83316400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr15:83316000-83316400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr15:83316000-83316400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr15:83316000-83316400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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