Variant report

Variant	rs2512392
Chromosome Location	chr11:86787727-86787728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86773350..86775874-chr11:86786933..86789262,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10792903	1.00[CHB][hapmap]
rs2124577	0.86[ASN][1000 genomes]
rs2124579	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2124581	0.90[AMR][1000 genomes]
rs2168469	0.87[AMR][1000 genomes]
rs2374996	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2445537	0.86[ASN][1000 genomes]
rs2445538	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2445543	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445549	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445552	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445558	0.86[ASN][1000 genomes]
rs2445559	0.80[AMR][1000 genomes]
rs2445563	0.80[AMR][1000 genomes]
rs2445564	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445566	0.85[AMR][1000 genomes]
rs2445567	0.87[AMR][1000 genomes]
rs2445568	0.87[AMR][1000 genomes]
rs2445569	0.87[AMR][1000 genomes]
rs2445570	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445576	0.89[AMR][1000 genomes]
rs2445579	0.90[AMR][1000 genomes]
rs2445581	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445582	0.87[AMR][1000 genomes]
rs2445584	0.89[AMR][1000 genomes]
rs2451066	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512327	0.80[AMR][1000 genomes]
rs2512335	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512345	0.80[AMR][1000 genomes]
rs2512347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512363	0.86[AMR][1000 genomes]
rs2512370	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2512371	0.87[ASN][1000 genomes]
rs2512373	0.87[ASN][1000 genomes]
rs2512379	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512380	0.87[AMR][1000 genomes]
rs2512381	0.87[AMR][1000 genomes]
rs2512382	0.86[AMR][1000 genomes]
rs2512385	0.86[AMR][1000 genomes]
rs2512388	0.89[AMR][1000 genomes]
rs2512390	0.89[AMR][1000 genomes]
rs2512393	0.89[AMR][1000 genomes]
rs2512394	0.90[AMR][1000 genomes]
rs2512478	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512486	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512488	0.80[AMR][1000 genomes]
rs2512493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2512498	0.87[ASN][1000 genomes]
rs2512501	0.86[AMR][1000 genomes]
rs2512502	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2513204	0.87[AMR][1000 genomes]
rs2513206	0.91[ASN][1000 genomes]
rs2513207	0.80[AMR][1000 genomes]
rs2513208	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513209	0.80[AMR][1000 genomes]
rs2513219	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513220	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513221	0.86[AMR][1000 genomes]
rs2513225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513226	0.80[AMR][1000 genomes]
rs2513227	0.80[AMR][1000 genomes]
rs2513232	0.83[JPT][hapmap];0.87[YRI][hapmap]
rs2513234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100847	0.80[AMR][1000 genomes]
rs3740659	0.91[JPT][hapmap]
rs4944666	0.87[AMR][1000 genomes]
rs7481222	0.83[EUR][1000 genomes]
rs965467	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86769200-86791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:86769200-86792400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
4	chr11:86773000-86790800	Weak transcription	NHLF	lung
5	chr11:86773000-86792000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:86774600-86792400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
8	chr11:86775600-86791400	Weak transcription	HSMM	muscle
9	chr11:86776400-86792400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:86776600-86793000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
12	chr11:86777400-86792400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:86778400-86792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:86778800-86789000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:86778800-86789600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86778800-86791800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:86778800-86792400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:86779000-86790200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:86779400-86792400	Weak transcription	GM12878-XiMat	blood
20	chr11:86779600-86792200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:86780200-86788600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:86780200-86789400	Strong transcription	Adipose Nuclei	Adipose
23	chr11:86781600-86788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:86782600-86795400	Weak transcription	Fetal Heart	heart
25	chr11:86782800-86788000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:86783000-86814000	Weak transcription	Hela-S3	cervix
27	chr11:86783200-86788200	Strong transcription	Primary T cells from cord blood	blood
28	chr11:86783200-86799000	Weak transcription	Psoas Muscle	Psoas
29	chr11:86783400-86787800	Weak transcription	NHDF-Ad	bronchial
30	chr11:86784000-86788200	Strong transcription	Liver	Liver
31	chr11:86784000-86792000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:86784800-86788000	Strong transcription	Ovary	ovary
33	chr11:86785600-86787800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:86785600-86788600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:86785600-86789200	Strong transcription	Dnd41	blood
36	chr11:86785800-86787800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:86785800-86788200	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:86785800-86788200	Weak transcription	Stomach Mucosa	stomach
39	chr11:86786000-86787800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:86786000-86788000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:86786000-86788000	Strong transcription	Fetal Thymus	thymus
42	chr11:86786000-86788000	Strong transcription	Thymus	Thymus
43	chr11:86786200-86788400	Weak transcription	Osteobl	bone
44	chr11:86786400-86787800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:86786400-86787800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:86786400-86787800	Strong transcription	Fetal Intestine Large	intestine
47	chr11:86786400-86787800	Strong transcription	Lung	lung
48	chr11:86786400-86788000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:86786400-86788000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:86786400-86788000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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