Variant report

Variant	rs9297716
Chromosome Location	chr8:126355162-126355163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126341424..126343336-chr8:126353093..126355921,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126337105..126338773-chr8:126354692..126356214,2	K562	blood:
4	chr8:126218358..126220845-chr8:126354499..126357060,2	K562	blood:
5	chr8:126349657..126352524-chr8:126353800..126356280,3	K562	blood:
6	chr8:126347469..126349929-chr8:126354038..126356701,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10094181	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100121	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100566	0.93[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10104659	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10105854	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10106359	0.83[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10216374	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10216768	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10505453	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956239	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956240	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956241	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956242	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774053	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775165	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776254	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11777625	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778683	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11778726	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782629	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11997581	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549738	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680560	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13254815	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13255114	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13259646	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13261579	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13261587	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274361	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293890	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385100	0.93[CEU][hapmap];0.91[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2891677	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2891678	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4466418	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870936	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870937	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871582	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871590	0.80[EUR][1000 genomes]
rs6470350	0.91[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986059	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986712	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989275	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989383	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6990622	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004739	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004753	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010240	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010394	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015753	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815471	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822592	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
5	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:126348800-126369800	Weak transcription	Gastric	stomach
9	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:126353000-126355200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:126353000-126355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:126353200-126355600	Enhancers	Small Intestine	intestine
15	chr8:126353200-126356000	Enhancers	Fetal Thymus	thymus
16	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:126353400-126355200	Enhancers	HSMM	muscle
18	chr8:126353400-126355600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:126353400-126355600	Enhancers	Adipose Nuclei	Adipose
20	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:126353600-126355200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr8:126353600-126355200	Enhancers	K562	blood
24	chr8:126353600-126355400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:126353600-126355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:126353600-126356400	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:126353800-126355200	Enhancers	Fetal Intestine Small	intestine
29	chr8:126354000-126355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:126354000-126355200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:126354000-126355200	Enhancers	Stomach Mucosa	stomach
32	chr8:126354000-126355600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:126354200-126355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:126354200-126355200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:126354200-126355200	Enhancers	Fetal Lung	lung
37	chr8:126354200-126355200	Enhancers	Left Ventricle	heart
38	chr8:126354200-126355200	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:126354200-126355200	Enhancers	Spleen	Spleen
40	chr8:126354200-126355200	Flanking Active TSS	A549	lung
41	chr8:126354200-126355200	Enhancers	Hela-S3	cervix
42	chr8:126354200-126355200	Enhancers	NH-A	brain
43	chr8:126354200-126355400	Enhancers	HepG2	liver
44	chr8:126354200-126355400	Enhancers	HUVEC	blood vessel
45	chr8:126354400-126355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:126354400-126355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:126354400-126355200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:126354400-126355200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:126354400-126355200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:126354400-126355200	Flanking Active TSS	GM12878-XiMat	blood

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