Variant report

Variant	rs6478137
Chromosome Location	chr9:117921095-117921096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10465110	0.82[ASN][1000 genomes]
rs10759758	0.87[CEU][hapmap];0.93[TSI][hapmap]
rs10817727	0.82[TSI][hapmap]
rs10982585	0.86[TSI][hapmap]
rs10982591	0.86[TSI][hapmap]
rs12683723	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs16932349	0.85[TSI][hapmap]
rs6478135	0.80[CHD][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs6478141	0.86[TSI][hapmap]
rs6478143	0.92[ASW][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.92[LWK][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7031771	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7851481	0.86[TSI][hapmap]
rs7862558	0.86[TSI][hapmap]
rs7866441	0.83[YRI][hapmap]

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	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
2	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
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117917800-117921200	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:117917800-117921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:117918600-117921800	Enhancers	Colon Smooth Muscle	Colon
4	chr9:117918800-117921600	Enhancers	NHLF	lung
5	chr9:117918800-117921800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:117918800-117922000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr9:117919000-117921600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:117919400-117921200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:117919800-117921600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:117919800-117921600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:117919800-117921600	Enhancers	Osteobl	bone
12	chr9:117919800-117922000	Enhancers	NHDF-Ad	bronchial
13	chr9:117920200-117921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:117920200-117921400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:117920200-117923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:117920400-117921200	Weak transcription	HSMMtube	muscle
17	chr9:117920400-117921400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:117920400-117921400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:117920400-117921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:117920400-117923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:117920400-117923000	Weak transcription	Fetal Intestine Small	intestine
22	chr9:117920400-117925800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:117920400-117925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:117920600-117926400	Weak transcription	NHEK	skin
25	chr9:117921000-117921600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:117921000-117921600	Enhancers	Fetal Intestine Large	intestine
27	chr9:117921000-117922000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:117921000-117922000	Enhancers	Fetal Heart	heart

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