Variant report

Variant	rs587759138
Chromosome Location	chr15:83316033-83316034
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	SIN3AK20	chr15:83315964-83316927	PANC-1	pancreas:	n/a	n/a
2	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
3	RCOR1	chr15:83315903-83316579	K562	blood:	n/a	n/a
4	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
5	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
6	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
7	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
8	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
9	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
10	POLR2A	chr15:83315988-83316392	K562	blood:	n/a	n/a
11	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
12	CTCF	chr15:83315947-83316667	A549	lung:	n/a	n/a
13	POLR2A	chr15:83316026-83316828	K562	blood:	n/a	n/a
14	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
15	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
16	USF1	chr15:83315857-83316245	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:83314860-83316964	K562	blood:	n/a	n/a
18	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
19	THAP1	chr15:83315767-83316036	K562	blood:	n/a	n/a
20	POLR2A	chr15:83314902-83316627	K562	blood:	n/a	n/a
21	CTCF	chr15:83316020-83316170	HRE	kidney:	n/a	n/a
22	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
23	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
24	CBX3	chr15:83315656-83316152	K562	blood:	n/a	n/a
25	E2F6	chr15:83315690-83316821	K562	blood:	n/a	chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83316377-83316384
26	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
27	TBL1XR1	chr15:83315913-83316582	K562	blood:	n/a	n/a
28	CHD2	chr15:83315866-83316736	K562	blood:	n/a	chr15:83316377-83316384
29	USF1	chr15:83315835-83316639	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
30	MYC	chr15:83315366-83316990	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
31	MXI1	chr15:83315835-83317088	SK-N-SH	brain:	n/a	chr15:83316014-83316023
32	USF1	chr15:83315877-83316617	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
33	ELF1	chr15:83315485-83317091	K562	blood:	n/a	chr15:83316355-83316367
34	CTCF	chr15:83315920-83316070	HFF	foreskin:	n/a	n/a
35	TAF1	chr15:83315841-83316629	K562	blood:	n/a	n/a
36	USF1	chr15:83315858-83316210	A549	lung:	n/a	n/a
37	MYC	chr15:83314815-83316876	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
38	USF1	chr15:83315918-83316128	GM12878	blood:	n/a	n/a
39	BHLHE40	chr15:83314933-83316809	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
40	CTCF	chr15:83316005-83316461	K562	blood:	n/a	n/a
41	USF1	chr15:83315914-83316675	A549	lung:	n/a	chr15:83316462-83316471 chr15:83316462-83316473 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
42	CTCF	chr15:83316004-83316524	K562	blood:	n/a	n/a
43	HCFC1	chr15:83315938-83316754	K562	blood:	n/a	n/a
44	CTCF	chr15:83315900-83316050	NHLF	lung:	n/a	n/a
45	JUND	chr15:83314976-83316804	K562	blood:	n/a	chr15:83316417-83316426 chr15:83315203-83315212 chr15:83316398-83316406
46	IRF1	chr15:83315909-83316726	K562	blood:	n/a	chr15:83315964-83315978
47	CTCF	chr15:83315980-83316130	GM12869	blood:	n/a	n/a
48	UBTF	chr15:83314779-83316748	K562	blood:	n/a	n/a
49	ETS1	chr15:83315836-83316856	K562	blood:	n/a	n/a
50	TCF12	chr15:83315860-83316771	A549	lung:	n/a	n/a

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

Variant related genes	Relation type
CPEB1	TF binding region
ENSG00000259462	TF binding region
ENSG00000103723	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000260608	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:103 , 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	chr15:83315000-83316200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr15:83315000-83316200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr15:83315000-83316200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:83315000-83316200	Flanking Active TSS	Pancreas	Pancrea
9	chr15:83315000-83316400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:83315000-83317200	Active TSS	Brain Substantia Nigra	brain
11	chr15:83315000-83317200	Active TSS	Right Atrium	heart
12	chr15:83315000-83317200	Bivalent/Poised TSS	NHLF	lung
13	chr15:83315000-83317400	Active TSS	Brain Angular Gyrus	brain
14	chr15:83315000-83317400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr15:83315000-83317400	Bivalent Enhancer	Placenta	Placenta
16	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:83315200-83316200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
18	chr15:83315200-83316200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:83315200-83316200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
20	chr15:83315200-83316200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr15:83315200-83316400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:83315200-83316400	Flanking Active TSS	Ovary	ovary
23	chr15:83315200-83317000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr15:83315200-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:83315400-83316200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr15:83315400-83316200	Flanking Active TSS	K562	blood
27	chr15:83315400-83316400	Bivalent Enhancer	Spleen	Spleen
28	chr15:83315400-83316600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:83315400-83316800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr15:83315400-83317200	Bivalent Enhancer	Liver	Liver
31	chr15:83315400-83317200	Bivalent/Poised TSS	NHEK	skin
32	chr15:83315400-83317400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr15:83315600-83316200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:83315600-83316200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:83315600-83316200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr15:83315600-83316200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:83315600-83316200	Flanking Active TSS	Gastric	stomach
38	chr15:83315600-83316400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:83315600-83316400	Bivalent Enhancer	Small Intestine	intestine
40	chr15:83315600-83316600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
41	chr15:83315600-83316600	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr15:83315600-83317000	Enhancers	Fetal Heart	heart
43	chr15:83315600-83317200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr15:83315600-83317400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr15:83315600-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:83315800-83316200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:83315800-83316200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
48	chr15:83315800-83316200	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr15:83315800-83316200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr15:83315800-83316200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas

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