Variant report

Variant	rs587690444
Chromosome Location	chr15:83315348-83315349
allele	-/C
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	RCOR1	chr15:83315121-83315410	K562	blood:	n/a	n/a
2	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
3	MAFK	chr15:83315325-83315418	K562	blood:	n/a	n/a
4	HEY1	chr15:83315226-83315599	K562	blood:	n/a	n/a
5	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
6	USF1	chr15:83315224-83315506	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBL1XR1	chr15:83315197-83315397	K562	blood:	n/a	n/a
8	RCOR1	chr15:83314858-83315561	K562	blood:	n/a	n/a
9	POLR2A	chr15:83314860-83316964	K562	blood:	n/a	n/a
10	CCNT2	chr15:83315005-83317012	K562	blood:	n/a	chr15:83315968-83315977
11	HEY1	chr15:83314783-83315918	K562	blood:	n/a	chr15:83315194-83315209
12	POLR2A	chr15:83314902-83316627	K562	blood:	n/a	n/a
13	USF1	chr15:83315146-83315628	K562	blood:	n/a	n/a
14	USF1	chr15:83315184-83315569	H1-hESC	embryonic stem cell:	n/a	n/a
15	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
16	BHLHE40	chr15:83314933-83316809	K562	blood:	n/a	chr15:83316462-83316471 chr15:83316461-83316474 chr15:83316463-83316472 chr15:83316464-83316473 chr15:83316463-83316472
17	EGR1	chr15:83315038-83315370	K562	blood:	n/a	chr15:83315128-83315135 chr15:83315205-83315218
18	JUND	chr15:83314976-83316804	K562	blood:	n/a	chr15:83316417-83316426 chr15:83315203-83315212 chr15:83316398-83316406
19	SIN3A	chr15:83314958-83315404	H1-hESC	embryonic stem cell:	n/a	n/a
20	UBTF	chr15:83314779-83316748	K562	blood:	n/a	n/a
21	E2F6	chr15:83314939-83317179	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
22	EGR1	chr15:83314934-83315551	K562	blood:	n/a	chr15:83315128-83315135 chr15:83315205-83315218
23	POLR2A	chr15:83314967-83315613	K562	blood:	n/a	n/a
24	POLR2A	chr15:83314922-83316843	K562	blood:	n/a	n/a
25	UBTF	chr15:83314909-83316747	K562	blood:	n/a	n/a
26	POLR2A	chr15:83314884-83315592	K562	blood:	n/a	n/a
27	ZBTB7A	chr15:83314907-83316975	K562	blood:	n/a	n/a
28	E2F4	chr15:83314805-83316795	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
29	POLR2A	chr15:83314916-83315590	K562	blood:	n/a	n/a
30	MYC	chr15:83314867-83316920	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	MAX	chr15:83314958-83317626	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
32	CBX3	chr15:83314795-83316810	K562	blood:	n/a	n/a
33	SETDB1	chr15:83315209-83317168	K562	blood:	n/a	n/a
34	POLR2A	chr15:83314899-83317040	K562	blood:	n/a	n/a
35	E2F6	chr15:83314918-83317699	H1-hESC	embryonic stem cell:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
36	TBL1XR1	chr15:83314941-83315419	K562	blood:	n/a	n/a
37	ZNF143	chr15:83315266-83315435	H1-hESC	embryonic stem cell:	n/a	n/a
38	NR2F2	chr15:83314927-83315674	K562	blood:	n/a	n/a
39	MAX	chr15:83315008-83316823	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
40	TBP	chr15:83314797-83317060	K562	blood:	n/a	n/a
41	E2F6	chr15:83314893-83316922	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
42	HMGN3	chr15:83314985-83317065	K562	blood:	n/a	chr15:83316396-83316405
43	YY1	chr15:83314969-83315519	K562	blood:	n/a	chr15:83315205-83315216
44	MAX	chr15:83314596-83317120	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
45	CHD2	chr15:83315104-83315365	K562	blood:	n/a	chr15:83315209-83315219 chr15:83315200-83315210
46	SIN3AK20	chr15:83314934-83315363	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
2	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
3	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
4	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
5	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
6	chr15:83216717..83218665-chr15:83313410..83315739,2	K562	blood:

Variant related genes	Relation type
ENSG00000259462	TF binding region
ENSG00000156232	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000169609	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	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83314000-83315400	Active TSS	K562	blood
2	chr15:83314800-83315400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:83314800-83315400	Active TSS	Brain Anterior Caudate	brain
4	chr15:83314800-83315400	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr15:83315000-83315400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:83315000-83315400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:83315000-83315400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:83315000-83315400	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr15:83315000-83315400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
23	chr15:83315000-83315600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr15:83315000-83315600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:83315000-83315600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
26	chr15:83315000-83315600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr15:83315000-83315600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr15:83315000-83315600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:83315000-83315600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:83315000-83315600	Bivalent Enhancer	Esophagus	oesophagus
31	chr15:83315000-83315600	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr15:83315000-83315600	Enhancers	Lung	lung
33	chr15:83315000-83315600	Bivalent/Poised TSS	NHDF-Ad	bronchial
34	chr15:83315000-83315800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:83315000-83315800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:83315000-83315800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:83315000-83315800	Bivalent Enhancer	HMEC	breast
38	chr15:83315000-83316000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr15:83315000-83316000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr15:83315000-83316000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr15:83315000-83316200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr15:83315000-83316200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr15:83315000-83316200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:83315000-83316200	Flanking Active TSS	Pancreas	Pancrea
48	chr15:83315000-83316400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:83315000-83317200	Active TSS	Brain Substantia Nigra	brain
50	chr15:83315000-83317200	Active TSS	Right Atrium	heart

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