Variant report

Variant	rs6470763
Chromosome Location	chr8:130720646-130720647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130719927..130722565-chr8:130723755..130726675,2	MCF-7	breast:
2	chr8:130699308..130701478-chr8:130717660..130720655,2	K562	blood:
3	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:
4	chr8:130717351..130718895-chr8:130719468..130721279,2	K562	blood:
5	chr8:130701843..130703503-chr8:130719583..130721644,2	K562	blood:
6	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10104593	0.85[ASN][1000 genomes]
rs1074286	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808583	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956487	0.86[ASN][1000 genomes]
rs10956490	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11984666	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062078	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3886937	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886938	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4130415	0.99[ASN][1000 genomes]
rs4144736	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4144738	0.95[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs4335095	0.85[ASN][1000 genomes]
rs4345520	0.85[ASN][1000 genomes]
rs4425724	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs4571702	0.85[ASN][1000 genomes]
rs4733724	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733725	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4733726	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733727	0.87[ASN][1000 genomes]
rs4733728	0.87[ASN][1000 genomes]
rs4733732	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs60228607	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470764	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470765	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6651255	0.99[ASN][1000 genomes]
rs6985118	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986256	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004355	0.85[ASN][1000 genomes]
rs7341636	0.87[ASN][1000 genomes]
rs7388479	0.83[ASN][1000 genomes]
rs7814941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815955	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816342	0.99[ASN][1000 genomes]
rs7816625	0.84[ASN][1000 genomes]
rs7826493	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7828785	0.84[ASN][1000 genomes]
rs7833174	0.90[ASN][1000 genomes]
rs7841981	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846627	0.95[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130719000-130723200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:130719200-130720800	Enhancers	Dnd41	blood
3	chr8:130719200-130721000	Flanking Active TSS	HUVEC	blood vessel
4	chr8:130719200-130721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130719200-130723400	Enhancers	HMEC	breast
6	chr8:130719200-130723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:130719200-130723800	Flanking Active TSS	A549	lung
8	chr8:130719400-130721200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130719600-130723400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:130719800-130721600	Enhancers	Fetal Intestine Small	intestine
11	chr8:130719800-130721800	Enhancers	Fetal Heart	heart
12	chr8:130719800-130723600	Enhancers	NHDF-Ad	bronchial
13	chr8:130719800-130725600	Enhancers	K562	blood
14	chr8:130720000-130720800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:130720000-130720800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:130720000-130720800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:130720000-130720800	Flanking Active TSS	NH-A	brain
18	chr8:130720000-130720800	Flanking Active TSS	Osteobl	bone
19	chr8:130720000-130721000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:130720000-130721000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:130720000-130721000	Flanking Active TSS	Hela-S3	cervix
22	chr8:130720000-130721200	Enhancers	Small Intestine	intestine
23	chr8:130720000-130721400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:130720000-130721400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:130720000-130721600	Enhancers	Fetal Stomach	stomach
26	chr8:130720000-130721600	Enhancers	HSMMtube	muscle
27	chr8:130720000-130722200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:130720000-130722400	Enhancers	Fetal Lung	lung
29	chr8:130720000-130723400	Enhancers	Fetal Intestine Large	intestine
30	chr8:130720000-130723400	Enhancers	HSMM	muscle
31	chr8:130720200-130720800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:130720200-130720800	Enhancers	Right Ventricle	heart
33	chr8:130720200-130721000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:130720200-130721000	Enhancers	Esophagus	oesophagus
35	chr8:130720200-130721000	Enhancers	Fetal Kidney	kidney
36	chr8:130720200-130721000	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:130720200-130721000	Enhancers	Right Atrium	heart
38	chr8:130720200-130721200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:130720200-130721200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:130720200-130721200	Enhancers	Fetal Muscle Leg	muscle
41	chr8:130720200-130721400	Enhancers	Placenta	Placenta
42	chr8:130720200-130721600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:130720200-130723800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:130720400-130720800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:130720400-130721000	Enhancers	Gastric	stomach
46	chr8:130720400-130721000	Enhancers	Lung	lung
47	chr8:130720400-130721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:130720400-130722000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:130720400-130722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:130720400-130723600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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