Variant report

Variant	rs6415485
Chromosome Location	chr8:125597758-125597759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
2	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
3	chr8:125595344..125598229-chr8:125853392..125854914,2	MCF-7	breast:
4	chr8:125597468..125600069-chr8:125711742..125713559,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094916	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10099056	0.89[EUR][1000 genomes]
rs10103773	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10110655	0.88[EUR][1000 genomes]
rs11783209	0.88[EUR][1000 genomes]
rs12546733	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2303955	0.88[EUR][1000 genomes]
rs3763541	0.88[EUR][1000 genomes]
rs3763542	0.88[EUR][1000 genomes]
rs4489311	0.88[EUR][1000 genomes]
rs4870906	0.83[ASN][1000 genomes]
rs6470253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470254	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6998600	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7010757	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7015228	0.89[EUR][1000 genomes]
rs7015374	0.89[EUR][1000 genomes]
rs7821954	0.84[AFR][1000 genomes];0.93[EUR][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	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:96 , 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	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
11	chr8:125585000-125598400	Strong transcription	Liver	Liver
12	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
16	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
17	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
18	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
19	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
20	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
21	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
22	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:125590800-125598800	Weak transcription	Right Ventricle	heart
25	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:125590800-125603600	Strong transcription	HepG2	liver
27	chr8:125591000-125602600	Weak transcription	NHLF	lung
28	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:125591800-125603000	Weak transcription	Fetal Brain Male	brain
30	chr8:125592000-125605400	Weak transcription	Osteobl	bone
31	chr8:125592000-125605600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:125592200-125597800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:125592200-125602600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:125592200-125604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:125592200-125605400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:125592400-125597800	Weak transcription	Dnd41	blood
37	chr8:125592400-125598400	Weak transcription	Fetal Stomach	stomach
38	chr8:125592400-125603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125592600-125605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:125593000-125598000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:125593000-125602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:125593200-125597800	Weak transcription	Thymus	Thymus
43	chr8:125593600-125606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:125594000-125603600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:125594400-125598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:125595600-125601600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:125595800-125600600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:125595800-125602600	Weak transcription	Lung	lung
49	chr8:125596000-125598200	Weak transcription	Esophagus	oesophagus
50	chr8:125596000-125598200	Weak transcription	Spleen	Spleen

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