Variant report

Variant	rs948819
Chromosome Location	chr11:58669239-58669240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58661995..58664743-chr11:58668611..58670936,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10792206	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792207	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896872	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896873	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896874	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896875	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896876	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896877	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896878	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896879	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896880	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896882	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896883	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896884	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229687	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229688	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229689	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229692	0.83[ASN][1000 genomes]
rs11229693	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229694	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229695	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229701	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229704	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229705	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229708	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11229711	0.96[ASN][1000 genomes]
rs12222597	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12272494	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12277628	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12278662	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12281983	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292314	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1808064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815856	0.94[CEU][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893627	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1893628	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1893629	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1938786	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1943264	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2156344	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2156345	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2156349	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740950	0.81[ASN][1000 genomes]
rs4271397	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4547111	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4573693	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4939243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56155456	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58848038	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61889804	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61889805	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61892604	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108461	1.00[CEU][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7118637	0.94[CEU][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7129011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73483072	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930111	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7939049	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948818	0.84[ASN][1000 genomes]
rs9787921	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1824025	chr11:58626835-58669877	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1831269	chr11:58626835-58669877	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3502182	chr11:58668199-58731237	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3502181	chr11:58668236-58731215	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3478019	chr11:58668282-58731214	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3478030	chr11:58668282-58731214	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv3502183	chr11:58668353-58731177	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58651000-58671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:58659400-58671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:58665200-58671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:58668400-58669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:58668400-58670600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:58668400-58670600	Weak transcription	NHDF-Ad	bronchial
7	chr11:58668400-58670800	Weak transcription	NHLF	lung
8	chr11:58668400-58672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:58668400-58672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:58668400-58672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:58668400-58672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:58668600-58670200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:58668600-58670400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:58668600-58671600	Weak transcription	Fetal Kidney	kidney
15	chr11:58668600-58672400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:58668800-58670000	Enhancers	Brain Germinal Matrix	brain
17	chr11:58668800-58670200	Weak transcription	Fetal Brain Female	brain
18	chr11:58668800-58670600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:58668800-58671000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:58668800-58671400	Weak transcription	Fetal Brain Male	brain
21	chr11:58668800-58671800	Weak transcription	NH-A	brain
22	chr11:58668800-58672400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:58668800-58672400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:58668800-58672400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:58668800-58672400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:58668800-58672400	Weak transcription	A549	lung
27	chr11:58668800-58672400	Weak transcription	NHEK	skin
28	chr11:58668800-58672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:58668800-58672600	Weak transcription	Pancreas	Pancrea
30	chr11:58669200-58670400	Weak transcription	HMEC	breast
31	chr11:58669200-58671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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