Variant report

Variant	rs62512576
Chromosome Location	chr8:67403719-67403720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67401678..67404150-chr8:67442018..67444245,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55932965	1.00[EUR][1000 genomes]
rs62511220	1.00[EUR][1000 genomes]
rs62511227	1.00[EUR][1000 genomes]
rs62512587	1.00[AFR][1000 genomes]
rs62512589	1.00[AFR][1000 genomes]
rs6999790	1.00[EUR][1000 genomes]
rs7017312	1.00[EUR][1000 genomes]
rs7827479	1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
2	chr8:67387400-67406400	Weak transcription	Liver	Liver
3	chr8:67395000-67403800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:67396000-67406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:67396200-67406000	Weak transcription	NHDF-Ad	bronchial
6	chr8:67396800-67404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:67397200-67403800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:67398400-67404000	Enhancers	Primary B cells from cord blood	blood
9	chr8:67398600-67405200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:67398800-67405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:67400000-67404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:67400000-67404400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:67400000-67404400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:67400000-67404600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:67400200-67406600	Weak transcription	Spleen	Spleen
16	chr8:67400400-67404000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:67400800-67405200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:67401200-67404400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:67402000-67403800	Enhancers	HUVEC	blood vessel
20	chr8:67402200-67404400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:67402200-67404600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:67402400-67403800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:67402400-67403800	Enhancers	NHEK	skin
24	chr8:67402600-67406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:67402800-67403800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:67403000-67404600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:67403200-67405600	Weak transcription	HSMM	muscle
28	chr8:67403200-67406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:67403400-67404000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:67403400-67404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:67403400-67405200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:67403400-67405200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:67403400-67405200	Weak transcription	Osteobl	bone
34	chr8:67403400-67405400	Weak transcription	HMEC	breast
35	chr8:67403400-67405400	Weak transcription	NH-A	brain
36	chr8:67403400-67406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:67403400-67406400	Weak transcription	NHLF	lung
38	chr8:67403600-67404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:67403600-67405800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:67403600-67406000	Weak transcription	K562	blood
41	chr8:67403600-67406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:67403600-67406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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