Variant report

Variant	rs62511227
Chromosome Location	chr8:67389734-67389735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:67389665-67390146	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr8:67389692-67390088	HUVEC	blood vessel:	n/a	n/a
3	NFIC	chr8:67389723-67390193	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr8:67389627-67390275	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr8:67389617-67390324	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67378228..67380679-chr8:67388244..67390416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253623	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55932965	1.00[EUR][1000 genomes]
rs62511220	1.00[EUR][1000 genomes]
rs62512576	1.00[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
3	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
4	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
5	chr8:67384400-67395800	Weak transcription	Osteobl	bone
6	chr8:67384600-67392200	Weak transcription	NHDF-Ad	bronchial
7	chr8:67384800-67389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:67384800-67389800	Weak transcription	HUVEC	blood vessel
9	chr8:67384800-67389800	Weak transcription	NH-A	brain
10	chr8:67384800-67392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:67384800-67392200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:67384800-67392200	Weak transcription	HSMMtube	muscle
13	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
14	chr8:67386000-67389800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:67386000-67389800	Weak transcription	Hela-S3	cervix
16	chr8:67386000-67390000	Weak transcription	NHEK	skin
17	chr8:67386400-67390000	Weak transcription	HMEC	breast
18	chr8:67387400-67406400	Weak transcription	Liver	Liver
19	chr8:67389400-67390000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:67389400-67390200	Enhancers	NHLF	lung
21	chr8:67389400-67390400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:67389400-67390400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:67389400-67390800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:67389400-67391000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:67389400-67391000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:67389400-67391000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:67389600-67389800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:67389600-67390000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:67389600-67390000	Enhancers	Placenta	Placenta
30	chr8:67389600-67390000	Enhancers	Psoas Muscle	Psoas
31	chr8:67389600-67390200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:67389600-67390200	Enhancers	Skeletal Muscle Female	skeletal muscle

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