Variant report

Variant	rs11794163
Chromosome Location	chr9:18492608-18492609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10511638	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511655	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511657	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963615	0.91[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788016	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788507	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789771	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789989	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792038	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793618	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538735	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936729	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936798	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205346	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205381	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205520	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205912	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206286	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206601	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206657	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206965	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207028	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207294	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17799670	1.00[ASN][1000 genomes]
rs17801150	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801409	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832637	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832746	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2153419	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7031222	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs725837	0.83[EUR][1000 genomes]
rs7863523	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv892689	chr9:18485434-18537444	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv892690	chr9:18485434-18592374	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 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	chr9:18487400-18495600	Enhancers	Fetal Heart	heart
2	chr9:18490000-18493200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:18490200-18493400	Weak transcription	Ovary	ovary
4	chr9:18490400-18493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:18490400-18509400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:18491000-18493400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:18491000-18493400	Weak transcription	Fetal Kidney	kidney
8	chr9:18491200-18492800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:18491200-18492800	Weak transcription	Fetal Brain Male	brain
10	chr9:18491200-18493200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:18491200-18493200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:18491200-18493400	Weak transcription	Fetal Brain Female	brain
13	chr9:18491200-18494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:18491200-18494800	Weak transcription	Hela-S3	cervix
15	chr9:18491200-18495000	Enhancers	HSMMtube	muscle
16	chr9:18491200-18495200	Enhancers	NHDF-Ad	bronchial
17	chr9:18491200-18495400	Enhancers	NHEK	skin
18	chr9:18491200-18498400	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:18491400-18493600	Weak transcription	Fetal Stomach	stomach
20	chr9:18491400-18493800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:18491400-18493800	Weak transcription	Aorta	Aorta
22	chr9:18491400-18494600	Enhancers	HUVEC	blood vessel
23	chr9:18491400-18495600	Enhancers	HMEC	breast
24	chr9:18491400-18495600	Enhancers	NHLF	lung
25	chr9:18491400-18497000	Enhancers	NH-A	brain
26	chr9:18491600-18492800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:18491600-18492800	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:18491600-18494400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:18491600-18494400	Enhancers	Osteobl	bone
30	chr9:18491800-18492800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:18492000-18493400	Weak transcription	Fetal Lung	lung
32	chr9:18492000-18497600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:18492200-18492800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr9:18492200-18495400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:18492400-18493200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:18492400-18494000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:18492400-18494400	Enhancers	HSMM	muscle
38	chr9:18492600-18493000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:18492600-18494000	Enhancers	Stomach Smooth Muscle	stomach
40	chr9:18492600-18494200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:18492600-18496800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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