Variant report

Variant	rs8037412
Chromosome Location	chr15:78509542-78509543
allele	A/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	HDAC2	chr15:78508998-78509654	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr15:78509143-78509612	MCF-7	breast:	n/a	n/a
3	NR2F2	chr15:78509033-78509677	MCF-7	breast:	n/a	n/a
4	NR2F2	chr15:78508940-78509705	MCF-7	breast:	n/a	n/a
5	RCOR1	chr15:78508991-78509571	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr15:78508739-78509869	MCF-7	breast:	n/a	n/a
7	EP300	chr15:78508809-78509769	SK-N-SH	brain:	n/a	chr15:78509033-78509043
8	MXI1	chr15:78508928-78509559	Hela-S3	cervix:	n/a	n/a
9	EP300	chr15:78508824-78509646	ECC-1	luminal epithelium:	n/a	chr15:78509033-78509043
10	SMARCC1	chr15:78508142-78509721	Hela-S3	cervix:	n/a	n/a
11	GATA3	chr15:78508957-78509640	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr15:78508787-78509676	ECC-1	luminal epithelium:	n/a	chr15:78509235-78509252
13	MAX	chr15:78508956-78509647	Hela-S3	cervix:	n/a	n/a
14	TCF12	chr15:78508853-78509639	A549	lung:	n/a	chr15:78509033-78509042
15	NFIC	chr15:78508929-78509575	SK-N-SH	brain:	n/a	chr15:78509235-78509252
16	FOSL2	chr15:78508976-78509572	MCF-7	breast:	n/a	n/a
17	GATA3	chr15:78509052-78509662	MCF-7	breast:	n/a	n/a
18	GATA3	chr15:78509023-78509581	T-47D	breast:	n/a	n/a
19	TCF12	chr15:78508973-78509613	SK-N-SH	brain:	n/a	chr15:78509033-78509042
20	GATA3	chr15:78508804-78509911	MCF-7	breast:	n/a	n/a
21	GATA2	chr15:78509167-78509543	SH-SY5Y	brain:	n/a	n/a
22	TCF12	chr15:78508768-78509652	ECC-1	luminal epithelium:	n/a	chr15:78509033-78509042
23	GATA3	chr15:78509064-78509558	T-47D	breast:	n/a	n/a
24	STAT3	chr15:78509015-78509615	Hela-S3	cervix:	n/a	n/a
25	GATA3	chr15:78509157-78509575	MCF-7	breast:	n/a	n/a
26	ZNF217	chr15:78508974-78509621	MCF-7	breast:	n/a	n/a
27	FOXM1	chr15:78508913-78509551	MCF-7	breast:	n/a	n/a
28	EP300	chr15:78508941-78509661	MCF-7	breast:	n/a	chr15:78509033-78509043
29	HDAC2	chr15:78508976-78509677	MCF-7	breast:	n/a	n/a
30	EP300	chr15:78508916-78509671	MCF-7	breast:	n/a	chr15:78509033-78509043
31	NFIC	chr15:78508859-78509552	ECC-1	luminal epithelium:	n/a	chr15:78509235-78509252
32	TFAP2C	chr15:78508869-78509658	Hela-S3	cervix:	n/a	n/a
33	GATA3	chr15:78508982-78509701	MCF-7	breast:	n/a	n/a
34	TBP	chr15:78509002-78509607	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr15:78508855-78509646	MCF-7	breast:	n/a	n/a
36	TFAP2A	chr15:78508664-78509634	Hela-S3	cervix:	n/a	chr15:78509483-78509495 chr15:78509223-78509238
37	TCF12	chr15:78508899-78509704	MCF-7	breast:	n/a	chr15:78509033-78509042
38	MAX	chr15:78508892-78509546	MCF-7	breast:	n/a	n/a
39	TCF12	chr15:78508977-78509565	ECC-1	luminal epithelium:	n/a	chr15:78509033-78509042
40	GATA3	chr15:78508988-78509608	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78509504..78512002-chr15:78513959..78517222,3	K562	blood:

Variant related genes	Relation type
ACSBG1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11629576	0.89[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12909007	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6495282	0.81[EUR][1000 genomes]
rs7164436	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7182497	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8035030	0.85[CEU][hapmap]
rs908949	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78494200-78509800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr15:78494800-78509800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr15:78495400-78510000	Enhancers	Pancreas	Pancrea
4	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:78504000-78510000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:78504400-78509800	Enhancers	Brain Substantia Nigra	brain
7	chr15:78506800-78509800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:78507000-78509600	Enhancers	A549	lung
9	chr15:78507200-78511000	Enhancers	Fetal Heart	heart
10	chr15:78507400-78509600	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:78507400-78509600	Enhancers	Colon Smooth Muscle	Colon
12	chr15:78507600-78510000	Enhancers	Duodenum Mucosa	Duodenum
13	chr15:78508000-78510400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:78508200-78509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:78508200-78509600	Enhancers	Liver	Liver
16	chr15:78508200-78509600	Enhancers	Brain Anterior Caudate	brain
17	chr15:78508200-78509600	Enhancers	Esophagus	oesophagus
18	chr15:78508200-78509600	Enhancers	Left Ventricle	heart
19	chr15:78508200-78509600	Enhancers	Psoas Muscle	Psoas
20	chr15:78508200-78509600	Flanking Active TSS	Hela-S3	cervix
21	chr15:78508200-78509800	Enhancers	Colonic Mucosa	Colon
22	chr15:78508200-78509800	Enhancers	Stomach Mucosa	stomach
23	chr15:78508200-78510400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr15:78508400-78509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:78508400-78509800	Enhancers	Adipose Nuclei	Adipose
26	chr15:78508400-78509800	Enhancers	Rectal Smooth Muscle	rectum
27	chr15:78508600-78509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:78508600-78509600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:78508600-78509600	Enhancers	Fetal Muscle Trunk	muscle
30	chr15:78508600-78509600	Enhancers	Placenta	Placenta
31	chr15:78508600-78509600	Enhancers	NHEK	skin
32	chr15:78508600-78509800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:78508800-78509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:78508800-78509600	Enhancers	Gastric	stomach
35	chr15:78509000-78509600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:78509000-78509600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:78509200-78509600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:78509200-78509600	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:78509200-78511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:78509400-78509600	Enhancers	Small Intestine	intestine
41	chr15:78509400-78509800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:78509400-78518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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