Variant report

Variant	rs11711194
Chromosome Location	chr3:23648116-23648117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11715841	0.82[CHB][hapmap]
rs11916411	0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.80[TSI][hapmap]
rs11918529	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1498809	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs1498811	0.82[CHB][hapmap]
rs1692622	0.88[GIH][hapmap]
rs1692650	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs1695200	0.93[GIH][hapmap];0.82[TSI][hapmap]
rs2036226	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs2055310	0.81[CHB][hapmap]
rs2133331	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs2173460	0.82[CHB][hapmap]
rs3111311	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap]
rs3817002	0.82[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs4513393	0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs4858518	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6763535	0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs6767599	0.82[CHB][hapmap]
rs6776424	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs6780723	0.81[JPT][hapmap]
rs6780787	0.90[CHD][hapmap];0.84[GIH][hapmap]
rs6788167	0.86[ASN][1000 genomes]
rs6797907	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap]
rs6798153	0.81[CHB][hapmap]
rs704533	0.93[GIH][hapmap]
rs7613091	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs7640308	0.82[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs778468	0.85[JPT][hapmap]
rs778476	0.87[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]
rs778480	0.82[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap]
rs778494	0.85[JPT][hapmap]
rs778510	0.81[CHB][hapmap]
rs778514	0.82[CHB][hapmap]
rs778523	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs9830388	0.82[CHB][hapmap]
rs9856169	0.87[CHB][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	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv460479	chr3:23626919-23807550	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv589949	chr3:23626919-23807550	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23638400-23653000	Weak transcription	Aorta	Aorta
2	chr3:23638400-23653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:23638800-23653400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:23642000-23653000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:23642400-23660800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:23643400-23648800	Weak transcription	Fetal Lung	lung
7	chr3:23643400-23652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:23643600-23649000	Weak transcription	Fetal Heart	heart
9	chr3:23643800-23648800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:23644600-23653000	Weak transcription	HSMMtube	muscle
11	chr3:23644800-23649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:23645000-23650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:23647200-23648200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:23647200-23648200	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:23647400-23648200	Enhancers	Brain Substantia Nigra	brain
16	chr3:23647400-23653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:23647600-23649000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:23647600-23649800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:23647600-23650200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:23647800-23649600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:23647800-23649600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:23647800-23652800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:23648000-23649000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:23648000-23649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:23648000-23649400	Enhancers	Fetal Stomach	stomach
26	chr3:23648000-23649600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:23648000-23650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:23648000-23653000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:23648000-23653000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:23648000-23653400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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