Variant report

Variant	rs3814747
Chromosome Location	chr11:65788072-65788073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65623999..65626428-chr11:65787537..65789052,2	MCF-7	breast:
2	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
3	chr11:65787106..65790003-chr11:65812691..65814392,2	MCF-7	breast:
4	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:

Variant related genes	Relation type
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10750774	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10750776	0.87[YRI][hapmap]
rs10896069	0.90[AMR][1000 genomes]
rs11227352	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs11227358	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs11227361	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs11227363	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs11227380	0.95[ASN][1000 genomes]
rs11227394	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs1211380	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12223658	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs17147342	0.81[ASW][hapmap]
rs1892901	0.82[JPT][hapmap]
rs2847698	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs3741372	0.95[ASN][1000 genomes]
rs3814748	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs548858	0.81[ASW][hapmap]
rs6591200	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7103709	0.82[JPT][hapmap]
rs7125150	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs744478	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7937692	0.90[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9326366	0.82[AFR][1000 genomes]
rs9326368	0.81[ASW][hapmap]
rs9666555	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9666934	0.90[AMR][1000 genomes]
rs9737415	0.81[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3814747	CXCL11	trans	brain	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65780800-65788600	Weak transcription	NHEK	skin
2	chr11:65781200-65788200	Weak transcription	Esophagus	oesophagus
3	chr11:65782600-65789800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:65783200-65788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:65783400-65788200	Weak transcription	A549	lung
6	chr11:65783400-65788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
8	chr11:65783600-65788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65783600-65788600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:65783800-65788200	Weak transcription	NH-A	brain
11	chr11:65783800-65790200	Weak transcription	Right Atrium	heart
12	chr11:65784000-65788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:65784000-65788600	Weak transcription	Placenta	Placenta
14	chr11:65784200-65788200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65784200-65788200	Weak transcription	HMEC	breast
16	chr11:65784200-65788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:65784200-65788800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:65784200-65789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:65784200-65789800	Weak transcription	Right Ventricle	heart
20	chr11:65784400-65788200	Weak transcription	NHDF-Ad	bronchial
21	chr11:65784400-65788800	Weak transcription	HSMMtube	muscle
22	chr11:65785200-65788800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:65787200-65788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65787400-65788200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:65787400-65789800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:65787600-65789200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65787600-65789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:65787800-65788200	Enhancers	HSMM	muscle
29	chr11:65787800-65788600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:65787800-65789200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr11:65787800-65789200	Enhancers	Osteobl	bone
32	chr11:65787800-65789800	Enhancers	K562	blood
33	chr11:65787800-65790400	Enhancers	HUVEC	blood vessel
34	chr11:65787800-65790600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:65787800-65790600	Enhancers	Spleen	Spleen
36	chr11:65788000-65788400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:65788000-65788400	Weak transcription	Adipose Nuclei	Adipose
38	chr11:65788000-65788400	Weak transcription	NHLF	lung
39	chr11:65788000-65788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:65788000-65789000	Flanking Active TSS	Hela-S3	cervix
41	chr11:65788000-65789200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:65788000-65789400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:65788000-65789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:65788000-65790000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:65788000-65790000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:65788000-65790400	Enhancers	Primary B cells from cord blood	blood
47	chr11:65788000-65790600	Enhancers	Primary hematopoietic stem cells	blood

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