Variant report

Variant	rs567743422
Chromosome Location	chr15:31507494-31507495
allele	A/G
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	chr15:31506590-31508289	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
2	SMC3	chr15:31506778-31509180	Hela-S3	cervix:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
3	MAX	chr15:31506693-31509050	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:31506705-31509296	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:31506770-31509334	GM12878	blood:	n/a	n/a
6	CTCF	chr15:31507436-31507559	GM10266	blood:	n/a	n/a
7	STAT3	chr15:31506998-31507852	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507799-31507811 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507010-31507017 chr15:31507648-31507668 chr15:31507654-31507663
8	POLR2A	chr15:31506781-31508367	GM12892	blood:	n/a	n/a
9	SMC3	chr15:31506875-31509137	SK-N-SH	brain:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
10	CTCF	chr15:31507463-31507549	GM19240	blood:	n/a	n/a
11	POLR2A	chr15:31506745-31509203	GM15510	blood:	n/a	n/a
12	CTCF	chr15:31507460-31507521	MCF-7	breast:	n/a	n/a
13	MTA3	chr15:31506588-31509494	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:31507391-31508280	HepG2	liver:	n/a	chr15:31508097-31508113 chr15:31508091-31508107 chr15:31508044-31508060
15	POLR2A	chr15:31507256-31508382	A549	lung:	n/a	n/a
16	CTCF	chr15:31507440-31508157	HCT-116	colon:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
17	CHD2	chr15:31507010-31509063	Hela-S3	cervix:	n/a	n/a
18	MAX	chr15:31506739-31509280	NB4	blood:	n/a	n/a
19	CTCF	chr15:31507460-31507610	GM12870	blood:	n/a	n/a
20	SMARCB1	chr15:31506827-31509186	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:31506646-31508392	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:31506496-31509522	GM18505	blood:	n/a	n/a
23	BCLAF1	chr15:31507376-31508386	GM12878	blood:	n/a	chr15:31507808-31507817 chr15:31508100-31508109 chr15:31508094-31508107 chr15:31508340-31508349 chr15:31507806-31507819 chr15:31508221-31508234 chr15:31507810-31507823 chr15:31508157-31508170
24	CTCF	chr15:31507400-31507550	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr15:31506401-31509581	GM12878	blood:	n/a	n/a
26	CREB1	chr15:31507051-31507564	A549	lung:	n/a	n/a
27	POLR2A	chr15:31507313-31509297	GM12878	blood:	n/a	n/a
28	MAZ	chr15:31506962-31508433	IMR90	lung:	n/a	n/a
29	CTCF	chr15:31507460-31507520	K562	blood:	n/a	n/a
30	ESR1	chr15:31507120-31507595	ECC-1	luminal epithelium:	n/a	chr15:31507388-31507403 chr15:31507388-31507405
31	POLR2A	chr15:31507076-31508313	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr15:31506608-31509626	GM19099	blood:	n/a	n/a
33	MAX	chr15:31506881-31509237	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:31507002-31509042	A549	lung:	n/a	n/a
35	ELF1	chr15:31506672-31509094	GM12878	blood:	n/a	chr15:31507337-31507349 chr15:31508221-31508233 chr15:31508806-31508815
36	MAZ	chr15:31506906-31509009	Hela-S3	cervix:	n/a	n/a
37	STAT5A	chr15:31507461-31508178	GM12878	blood:	n/a	chr15:31507651-31507665 chr15:31507799-31507811 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507648-31507668 chr15:31507654-31507663
38	HCFC1	chr15:31506825-31509438	Hela-S3	cervix:	n/a	n/a
39	NFATC1	chr15:31507404-31508367	GM12878	blood:	n/a	n/a
40	TCF12	chr15:31507456-31509022	ECC-1	luminal epithelium:	n/a	n/a
41	MAZ	chr15:31507271-31509041	GM12878	blood:	n/a	n/a
42	STAT3	chr15:31507036-31507705	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507648-31507668 chr15:31507654-31507663
43	POLR2A	chr15:31506751-31509296	GM18951	blood:	n/a	n/a
44	NR3C1	chr15:31507046-31507563	A549	lung:	n/a	n/a
45	RCOR1	chr15:31506976-31509015	Hela-S3	cervix:	n/a	n/a
46	TFAP2A	chr15:31506956-31509262	Hela-S3	cervix:	n/a	chr15:31508805-31508815 chr15:31508247-31508262 chr15:31508801-31508812 chr15:31508198-31508213 chr15:31508805-31508815
47	POLR2A	chr15:31506916-31508406	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:31507085-31508359	GM12892	blood:	n/a	n/a
49	CTCF	chr15:31507400-31507550	HEK293	kidney:	n/a	n/a
50	GTF2F1	chr15:31506987-31507813	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
2	chr15:31507329..31508126-chr3:9438102..9438856,3	Hela-S3	cervix:
3	chr15:31507333..31508207-chr15:31618137..31618644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259448	TF binding region
ENSG00000206573	Chromatin interaction
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903836	chr15:31330280-31512652	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	esv3389877	chr15:31506685-31509233	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31504000-31507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:31504000-31507800	Enhancers	Placenta	Placenta
3	chr15:31504400-31507800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:31506400-31507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:31506400-31507800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr15:31506400-31508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:31506400-31508000	Flanking Active TSS	Fetal Thymus	thymus
8	chr15:31506600-31507600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:31506600-31507600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:31506600-31507600	Enhancers	Fetal Intestine Large	intestine
11	chr15:31506600-31507600	Enhancers	Stomach Mucosa	stomach
12	chr15:31506600-31507800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:31506600-31507800	Enhancers	Lung	lung
14	chr15:31506600-31507800	Enhancers	Right Atrium	heart
15	chr15:31506600-31507800	Flanking Active TSS	Thymus	Thymus
16	chr15:31506600-31507800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:31506600-31509400	Enhancers	Fetal Heart	heart
18	chr15:31506800-31507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr15:31506800-31507600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:31506800-31507600	Enhancers	Brain Anterior Caudate	brain
21	chr15:31506800-31507600	Enhancers	Brain Cingulate Gyrus	brain
22	chr15:31506800-31507600	Enhancers	Brain Hippocampus Middle	brain
23	chr15:31506800-31507600	Enhancers	Colon Smooth Muscle	Colon
24	chr15:31506800-31507600	Enhancers	Stomach Smooth Muscle	stomach
25	chr15:31506800-31507600	Flanking Active TSS	Hela-S3	cervix
26	chr15:31506800-31507600	Enhancers	NHEK	skin
27	chr15:31506800-31507800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:31506800-31507800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr15:31506800-31507800	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:31506800-31507800	Enhancers	Gastric	stomach
31	chr15:31506800-31507800	Enhancers	Left Ventricle	heart
32	chr15:31506800-31507800	Flanking Active TSS	GM12878-XiMat	blood
33	chr15:31506800-31509200	Enhancers	Fetal Brain Male	brain
34	chr15:31507000-31507600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr15:31507000-31507600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:31507000-31507600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:31507000-31507600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:31507000-31507600	Enhancers	Brain Substantia Nigra	brain
39	chr15:31507000-31507600	Enhancers	Small Intestine	intestine
40	chr15:31507000-31507600	Flanking Active TSS	HepG2	liver
41	chr15:31507000-31507800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:31507000-31507800	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr15:31507000-31507800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:31507000-31507800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:31507000-31507800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:31507000-31507800	Enhancers	Brain Angular Gyrus	brain
47	chr15:31507000-31507800	Enhancers	Fetal Muscle Leg	muscle
48	chr15:31507000-31507800	Enhancers	Pancreas	Pancrea
49	chr15:31507000-31507800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:31507000-31507800	Flanking Active TSS	A549	lung

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