Variant report

Variant	rs11180698
Chromosome Location	chr12:76216242-76216243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76215518..76217462-chr12:76234728..76237383,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10431516	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10431517	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10431594	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10431595	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180691	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11180692	1.00[CEU][hapmap]
rs11180693	1.00[CEU][hapmap]
rs11180694	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11180699	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180700	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180702	0.96[EUR][1000 genomes]
rs11180704	0.96[EUR][1000 genomes]
rs11180706	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180707	0.80[ASW][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs11180708	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1275563	0.88[EUR][1000 genomes]
rs12809551	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819031	0.83[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12827587	0.91[EUR][1000 genomes]
rs12831736	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1299468	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap]
rs1532294	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565771	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17115738	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs17115780	0.80[ASW][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34148649	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34175277	0.92[ASN][1000 genomes]
rs34198570	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34666369	0.89[ASN][1000 genomes]
rs35319713	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35630793	0.89[ASN][1000 genomes]
rs35906325	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35916241	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4531531	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71460148	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71460149	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71460151	0.89[ASN][1000 genomes]
rs937245	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
3	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:76212400-76216400	Enhancers	HMEC	breast
5	chr12:76212800-76216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:76213400-76218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:76213400-76218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:76213400-76218600	Weak transcription	Esophagus	oesophagus
9	chr12:76213600-76217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:76213600-76217600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:76213600-76219200	Weak transcription	Fetal Kidney	kidney
12	chr12:76214400-76216600	Enhancers	Fetal Lung	lung
13	chr12:76215000-76216400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:76215000-76216400	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:76215000-76218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:76215000-76219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:76215000-76219800	Weak transcription	Aorta	Aorta
18	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
19	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:76215200-76216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:76215200-76217200	Enhancers	Fetal Stomach	stomach
22	chr12:76215200-76217400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:76215200-76219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:76215400-76217200	Weak transcription	NH-A	brain
25	chr12:76215400-76217200	Weak transcription	Osteobl	bone
26	chr12:76215400-76217400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:76215400-76218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:76215600-76217400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:76215800-76216400	Genic enhancers	NHEK	skin
30	chr12:76215800-76216600	Enhancers	Fetal Muscle Leg	muscle
31	chr12:76216000-76216400	Enhancers	Lung	lung
32	chr12:76216000-76216600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:76216000-76216600	Active TSS	Spleen	Spleen
34	chr12:76216000-76221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:76216200-76216400	Bivalent Enhancer	HSMMtube	muscle
36	chr12:76216200-76216600	Enhancers	Right Atrium	heart
37	chr12:76216200-76217400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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