Variant report

Variant	rs7182993
Chromosome Location	chr15:79045014-79045015
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	REST	chr15:79044823-79046077	SK-N-SH	brain:	n/a	n/a
2	EP300	chr15:79044185-79046299	SK-N-SH	brain:	n/a	chr15:79044205-79044221
3	MXI1	chr15:79044077-79046320	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr15:79044861-79045913	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78290955..78292806-chr15:79043518..79045037,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238166	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11072800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632672	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633152	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11852909	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12148817	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899201	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12901228	0.81[ASN][1000 genomes]
rs12904489	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12906022	0.80[ASN][1000 genomes]
rs12906165	0.80[ASN][1000 genomes]
rs12906835	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906847	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12906977	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12907207	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12907432	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12907536	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12910831	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912245	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913779	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12917502	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383634	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1383635	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1825086	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1904920	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1964562	0.81[ASN][1000 genomes]
rs2017091	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2017297	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2046143	0.81[ASN][1000 genomes]
rs2219939	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2622821	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34019568	0.81[ASN][1000 genomes]
rs4887091	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887092	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59414039	0.81[ASN][1000 genomes]
rs7176070	0.82[EUR][1000 genomes]
rs7177143	0.85[ASN][1000 genomes]
rs7182567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755998	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8024939	0.85[ASN][1000 genomes]
rs8030090	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8030335	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv974606	chr15:78996783-79048337	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:79042800-79055400	Enhancers	Right Ventricle	heart
3	chr15:79043200-79047200	Weak transcription	NHDF-Ad	bronchial
4	chr15:79043400-79045400	Weak transcription	Right Atrium	heart
5	chr15:79043400-79046800	Enhancers	HSMMtube	muscle
6	chr15:79043400-79048200	Weak transcription	NH-A	brain
7	chr15:79043400-79048600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:79043400-79049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:79043400-79049200	Weak transcription	NHLF	lung
10	chr15:79043400-79049400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:79043400-79049600	Weak transcription	Pancreas	Pancrea
12	chr15:79043600-79045600	Enhancers	HSMM	muscle
13	chr15:79043600-79046400	Weak transcription	A549	lung
14	chr15:79043600-79046800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:79043600-79046800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:79043600-79048200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:79043600-79048600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:79043600-79049600	Weak transcription	Colonic Mucosa	Colon
19	chr15:79043600-79049800	Weak transcription	Fetal Brain Female	brain
20	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
21	chr15:79043800-79045200	Weak transcription	Adipose Nuclei	Adipose
22	chr15:79043800-79046600	Weak transcription	Ovary	ovary
23	chr15:79043800-79046800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:79043800-79048000	Weak transcription	Osteobl	bone
25	chr15:79043800-79048600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:79043800-79049200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:79043800-79049200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:79043800-79049600	Weak transcription	Lung	lung
30	chr15:79043800-79052000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:79043800-79053400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:79044000-79045400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:79044000-79046200	Weak transcription	Left Ventricle	heart
34	chr15:79044000-79046600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:79044000-79047400	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:79044000-79048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:79044000-79048200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:79044000-79048200	Weak transcription	HUVEC	blood vessel
39	chr15:79044000-79048400	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:79044000-79049200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:79044000-79049200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:79044000-79049200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:79044000-79049600	Weak transcription	Stomach Mucosa	stomach
44	chr15:79044000-79050000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:79044000-79052600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:79044200-79048200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:79044200-79049200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:79044200-79049200	Weak transcription	Fetal Thymus	thymus
49	chr15:79044200-79059000	Enhancers	Fetal Muscle Trunk	muscle
50	chr15:79044400-79049400	Weak transcription	Primary T cells fromperipheralblood	blood

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