Variant report

Variant	rs6591235
Chromosome Location	chr11:66950374-66950375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66949172..66951856-chr11:66972901..66974500,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10791900	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10896161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11227689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11227695	0.83[ASN][1000 genomes]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs11227697	0.81[ASN][1000 genomes]
rs11227701	0.88[ASN][1000 genomes]
rs11227703	0.88[ASN][1000 genomes]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs11227715	0.94[ASN][1000 genomes]
rs11227718	0.94[ASN][1000 genomes]
rs11227720	0.94[ASN][1000 genomes]
rs11227722	0.94[ASN][1000 genomes]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs11227732	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11227742	0.85[EUR][1000 genomes]
rs11227744	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11227746	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11227751	0.85[EUR][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11227755	1.00[JPT][hapmap]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12271777	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12273711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274774	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12282264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293866	0.86[ASN][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs28604372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3730145	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55936319	0.83[ASN][1000 genomes]
rs58100805	0.85[EUR][1000 genomes]
rs61395951	0.88[ASN][1000 genomes]
rs61891316	0.83[ASN][1000 genomes]
rs61891317	0.83[ASN][1000 genomes]
rs61891340	0.94[ASN][1000 genomes]
rs61891342	0.94[ASN][1000 genomes]
rs61891343	0.91[ASN][1000 genomes]
rs61891344	0.94[ASN][1000 genomes]
rs61891346	0.94[ASN][1000 genomes]
rs6591234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs72926981	0.83[ASN][1000 genomes]
rs7947663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
3	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
4	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:66926000-66950400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
10	chr11:66934400-66950600	Weak transcription	Colonic Mucosa	Colon
11	chr11:66934400-66951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:66936400-66950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:66936400-66956000	Weak transcription	Fetal Heart	heart
14	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
15	chr11:66941600-66951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:66942400-66955000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:66942600-66950600	Weak transcription	A549	lung
18	chr11:66942600-66952800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:66942600-66982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:66942800-66950400	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:66942800-66961000	Weak transcription	Gastric	stomach
22	chr11:66943000-66950400	Weak transcription	Spleen	Spleen
23	chr11:66944000-66961200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:66944200-66950600	Weak transcription	Fetal Brain Male	brain
25	chr11:66945000-66954400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:66945000-66956200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:66945000-66956600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:66945000-66956800	Strong transcription	Dnd41	blood
29	chr11:66945000-66957000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:66945200-66954200	Strong transcription	Primary T cells from cord blood	blood
31	chr11:66945200-66955000	Strong transcription	Primary B cells from cord blood	blood
32	chr11:66945800-66984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:66946200-66952200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:66946400-66955400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:66946800-66954400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:66947000-66951200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:66947000-66952200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:66947000-66952800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:66947000-66954000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:66947000-66954200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:66947000-66954600	Strong transcription	Osteobl	bone
42	chr11:66947000-66955600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:66947000-66956400	Strong transcription	GM12878-XiMat	blood
44	chr11:66947000-66964000	Strong transcription	Fetal Thymus	thymus
45	chr11:66947200-66951400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:66947200-66953800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:66947200-66954000	Strong transcription	Adipose Nuclei	Adipose
48	chr11:66947200-66954200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:66947200-66954400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:66947200-66954400	Strong transcription	Left Ventricle	heart

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