Variant report

Variant	rs7114688
Chromosome Location	chr11:9253387-9253388
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10770000	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770001	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770002	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10770003	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10770004	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10770006	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs10770008	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs10770010	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs10770016	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10840196	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042200	0.95[YRI][hapmap]
rs11042227	0.97[ASN][1000 genomes]
rs11042245	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042252	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042262	0.81[EUR][1000 genomes]
rs11042264	0.81[EUR][1000 genomes]
rs11042267	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11608172	0.90[ASN][1000 genomes]
rs12289113	0.97[ASN][1000 genomes]
rs12295767	0.93[ASN][1000 genomes]
rs12296016	0.94[ASN][1000 genomes]
rs12420463	0.90[ASN][1000 genomes]
rs12577661	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2133216	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2873069	0.94[ASN][1000 genomes]
rs34729888	0.97[ASN][1000 genomes]
rs35686957	0.86[EUR][1000 genomes]
rs35757766	0.90[ASN][1000 genomes]
rs35955530	0.90[ASN][1000 genomes]
rs4343026	0.80[EUR][1000 genomes]
rs4369406	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4447178	0.85[EUR][1000 genomes]
rs4601779	0.82[EUR][1000 genomes]
rs5014247	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs61877814	0.97[ASN][1000 genomes]
rs61877916	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6486206	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6486210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486215	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486226	0.97[ASN][1000 genomes]
rs6486231	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101432	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7104221	0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7109911	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7112540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7115062	0.97[ASN][1000 genomes]
rs7116459	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7121013	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs7123342	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs71476818	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7358313	0.83[EUR][1000 genomes]
rs7394878	0.95[YRI][hapmap]
rs7396439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7482630	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs770	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924664	0.97[ASN][1000 genomes]
rs7925308	0.91[YRI][hapmap]
rs7930507	0.95[YRI][hapmap]
rs7933448	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7941520	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951700	0.83[ASN][1000 genomes]
rs7952508	0.84[EUR][1000 genomes]
rs952374	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs9736263	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9888193	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs9888229	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:9241400-9254200	Weak transcription	HMEC	breast
4	chr11:9250800-9257800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:9251000-9253800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:9251000-9254200	Weak transcription	Fetal Kidney	kidney
7	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
8	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:9251200-9254200	Weak transcription	Ovary	ovary
10	chr11:9251400-9271800	Weak transcription	Gastric	stomach
11	chr11:9251600-9253600	Enhancers	HepG2	liver
12	chr11:9251800-9254000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:9252200-9253400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr11:9252200-9254400	Enhancers	Fetal Lung	lung
15	chr11:9252200-9254600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:9252400-9253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:9252400-9254000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:9252400-9254200	Weak transcription	Right Ventricle	heart
19	chr11:9252400-9254400	Enhancers	Dnd41	blood
20	chr11:9252600-9253400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:9252600-9253400	Weak transcription	Fetal Brain Male	brain
22	chr11:9252600-9253600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:9252600-9253600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:9252600-9253600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:9252600-9253600	Active TSS	GM12878-XiMat	blood
26	chr11:9252600-9253800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:9252600-9253800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:9252600-9254200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:9252600-9254400	Enhancers	Colon Smooth Muscle	Colon
30	chr11:9252600-9254400	Enhancers	Fetal Brain Female	brain
31	chr11:9252600-9264000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
33	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:9252800-9253400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:9252800-9253400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr11:9252800-9253400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:9252800-9253600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:9252800-9253600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:9252800-9253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:9252800-9253600	Active TSS	Duodenum Mucosa	Duodenum
41	chr11:9252800-9253600	Active TSS	NHDF-Ad	bronchial
42	chr11:9252800-9253800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:9252800-9253800	Enhancers	Fetal Heart	heart
44	chr11:9252800-9253800	Active TSS	Stomach Smooth Muscle	stomach
45	chr11:9252800-9253800	Enhancers	HSMM	muscle
46	chr11:9252800-9254200	Enhancers	NH-A	brain
47	chr11:9252800-9254400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:9252800-9254400	Enhancers	Rectal Smooth Muscle	rectum
49	chr11:9252800-9254400	Enhancers	HUVEC	blood vessel
50	chr11:9252800-9254400	Enhancers	Osteobl	bone

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