Variant report

Variant	rs2183701
Chromosome Location	chr9:117867958-117867959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10982535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1250019	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1250021	0.96[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1250022	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1250026	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1250027	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1273108	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1330355	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1330356	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1511	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1755639	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1755646	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1757106	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs1757107	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1819419	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1929395	0.95[JPT][hapmap]
rs2274836	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2480930	0.83[ASN][1000 genomes]
rs2480932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482080	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2989518	0.83[JPT][hapmap]
rs3789867	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789868	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769331	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs881496	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs944227	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];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	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
5	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
2	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:117853400-117874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:117861000-117868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:117861600-117870400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:117861600-117876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:117861800-117874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:117862400-117872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:117862600-117877200	Weak transcription	Fetal Kidney	kidney
10	chr9:117862600-117877200	Weak transcription	Fetal Stomach	stomach
11	chr9:117864600-117868200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:117864600-117870600	Enhancers	HMEC	breast
13	chr9:117865400-117870000	Enhancers	Colon Smooth Muscle	Colon
14	chr9:117865600-117868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:117865800-117868200	Enhancers	NHDF-Ad	bronchial
16	chr9:117865800-117869000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:117865800-117870800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:117866400-117875000	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:117866600-117870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:117866800-117868000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:117866800-117870400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:117867000-117868800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:117867000-117869000	Enhancers	Small Intestine	intestine
24	chr9:117867000-117869200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:117867000-117870400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:117867000-117870400	Enhancers	NH-A	brain
27	chr9:117867200-117870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:117867400-117868400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:117867400-117868800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:117867400-117868800	Enhancers	NHLF	lung
31	chr9:117867400-117870800	Enhancers	Liver	Liver
32	chr9:117867400-117872200	Enhancers	NHEK	skin
33	chr9:117867400-117874000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:117867600-117868400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:117867600-117868400	Flanking Active TSS	Osteobl	bone
36	chr9:117867600-117869000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:117867600-117869200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:117867600-117869200	Enhancers	Fetal Lung	lung
39	chr9:117867600-117869400	Enhancers	A549	lung
40	chr9:117867800-117868600	Weak transcription	Stomach Mucosa	stomach
41	chr9:117867800-117870200	Weak transcription	Stomach Smooth Muscle	stomach

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