Variant report

Variant	rs73662288
Chromosome Location	chr8:8928188-8928189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10091937	0.95[ASN][1000 genomes]
rs11249900	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11249901	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs920974	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8923800-8928200	Weak transcription	Aorta	Aorta
3	chr8:8923800-8929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8923800-8932000	Weak transcription	A549	lung
5	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
6	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:8924000-8937800	Weak transcription	Lung	lung
8	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
9	chr8:8924200-8928200	Weak transcription	Psoas Muscle	Psoas
10	chr8:8924200-8930400	Weak transcription	Fetal Intestine Small	intestine
11	chr8:8924400-8929000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:8924600-8928200	Weak transcription	Left Ventricle	heart
13	chr8:8924600-8930200	Weak transcription	HSMM	muscle
14	chr8:8924600-8932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:8924800-8930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:8925000-8928200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:8925000-8932000	Weak transcription	Fetal Lung	lung
18	chr8:8925200-8930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:8925200-8930200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:8925200-8932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:8925200-8932600	Weak transcription	Liver	Liver
22	chr8:8925600-8930200	Weak transcription	Fetal Heart	heart
23	chr8:8926400-8928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:8927000-8929400	Enhancers	NHDF-Ad	bronchial
25	chr8:8927400-8929400	Enhancers	HUVEC	blood vessel
26	chr8:8927800-8928600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8927800-8928600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:8927800-8928600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:8927800-8928600	Enhancers	NHEK	skin
30	chr8:8927800-8928600	Enhancers	Osteobl	bone
31	chr8:8927800-8928800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:8927800-8928800	Enhancers	Ovary	ovary
33	chr8:8927800-8928800	Enhancers	NH-A	brain
34	chr8:8927800-8929200	Enhancers	Adipose Nuclei	Adipose
35	chr8:8927800-8929800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:8928000-8928200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:8928000-8928400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:8928000-8928400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:8928000-8928600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:8928000-8928600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:8928000-8928600	Enhancers	HMEC	breast
42	chr8:8928000-8928800	Enhancers	HSMMtube	muscle
43	chr8:8928000-8930200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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