Variant report

Variant	rs6470253
Chromosome Location	chr8:125596256-125596257
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125594943..125596479-chr8:126063725..126065231,2	MCF-7	breast:
2	chr8:125573775..125576399-chr8:125595466..125597111,2	MCF-7	breast:
3	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
4	chr8:125595344..125598229-chr8:125853392..125854914,2	MCF-7	breast:
5	chr8:125549881..125552014-chr8:125595096..125596668,2	MCF-7	breast:
6	chr8:125595595..125597399-chr8:125601686..125604511,2	MCF-7	breast:
7	chr8:125592807..125597329-chr8:125826255..125829411,6	K562	blood:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10094916	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10099056	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs10103773	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110655	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes]
rs11778396	1.00[YRI][hapmap]
rs11783209	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs12546139	0.91[ASN][1000 genomes]
rs12546733	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255599	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs16899688	0.85[CEU][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap]
rs17371123	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2303955	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs3750232	0.88[CHD][hapmap];0.89[JPT][hapmap]
rs3763541	0.89[EUR][1000 genomes]
rs3763542	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs3763543	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs3763544	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs3829035	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap]
rs4489311	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs6415485	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997175	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6997184	0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs6998462	0.92[ASN][1000 genomes]
rs6998600	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002655	0.92[ASN][1000 genomes]
rs7003895	0.92[ASN][1000 genomes]
rs7010757	0.87[ASW][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7015228	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs7015374	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs7821954	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7835397	0.88[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap]
rs7841224	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs7846270	0.83[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]

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	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125578000-125598600	Weak transcription	Gastric	stomach
8	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
12	chr8:125585000-125598400	Strong transcription	Liver	Liver
13	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
15	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
18	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
19	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
20	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
21	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
22	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
23	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
24	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
25	chr8:125588800-125597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:125589600-125597200	Strong transcription	Fetal Intestine Large	intestine
28	chr8:125589800-125597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:125590200-125596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:125590200-125596800	Strong transcription	HMEC	breast
31	chr8:125590400-125597400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:125590800-125596400	Weak transcription	Brain Angular Gyrus	brain
34	chr8:125590800-125596600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:125590800-125598800	Weak transcription	Right Ventricle	heart
36	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:125590800-125603600	Strong transcription	HepG2	liver
38	chr8:125591000-125602600	Weak transcription	NHLF	lung
39	chr8:125591400-125597200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:125591800-125603000	Weak transcription	Fetal Brain Male	brain
42	chr8:125592000-125605400	Weak transcription	Osteobl	bone
43	chr8:125592000-125605600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:125592200-125597400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:125592200-125597800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:125592200-125602600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:125592200-125604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:125592200-125605400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:125592400-125597800	Weak transcription	Dnd41	blood
50	chr8:125592400-125598400	Weak transcription	Fetal Stomach	stomach

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