Variant report

Variant	rs62580463
Chromosome Location	chr9:117859540-117859541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1262054	1.00[ASN][1000 genomes]
rs17241477	1.00[ASN][1000 genomes]
rs57325849	1.00[EUR][1000 genomes]
rs62578426	1.00[ASN][1000 genomes]
rs62578427	1.00[ASN][1000 genomes]
rs62580479	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62580481	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62580505	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859964	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
2	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
3	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117849600-117864600	Weak transcription	HMEC	breast
5	chr9:117849800-117860400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:117849800-117860600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:117851200-117867200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:117853400-117861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:117853400-117874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:117854000-117860600	Weak transcription	NHDF-Ad	bronchial
11	chr9:117854400-117860600	Weak transcription	Osteobl	bone
12	chr9:117855200-117861000	Weak transcription	NH-A	brain
13	chr9:117856800-117860400	Weak transcription	Fetal Stomach	stomach
14	chr9:117857200-117859600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:117857200-117860000	Weak transcription	Fetal Lung	lung
16	chr9:117857200-117860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:117857200-117861000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:117857400-117860000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:117857400-117867400	Weak transcription	NHLF	lung
20	chr9:117857600-117860200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:117857600-117866000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:117857600-117866800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:117858400-117859600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:117858800-117859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:117858800-117860000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:117858800-117860000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:117858800-117861200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:117858800-117863000	Enhancers	Colon Smooth Muscle	Colon
29	chr9:117858800-117865600	Enhancers	Rectal Smooth Muscle	rectum
30	chr9:117859000-117861000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:117859000-117861800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:117859400-117859800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:117859400-117862800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:117859400-117865800	Weak transcription	NHEK	skin

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