Variant report

Variant	rs12023176
Chromosome Location	chr1:67063531-67063532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10493411	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10789211	0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs10889629	0.89[ASN][1000 genomes]
rs11208907	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208908	0.90[ASN][1000 genomes]
rs11208910	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11208916	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs11208924	0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11208929	0.89[ASN][1000 genomes]
rs11208930	0.80[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11208937	0.89[JPT][hapmap]
rs1156618	0.89[ASN][1000 genomes]
rs12021913	0.82[ASN][1000 genomes]
rs12034344	0.90[ASN][1000 genomes]
rs12039282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12041930	0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.96[ASN][1000 genomes]
rs12046520	0.85[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs12402181	0.89[ASN][1000 genomes]
rs12565798	0.82[ASN][1000 genomes]
rs12567556	0.90[ASN][1000 genomes]
rs1373909	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1445573	0.85[CHD][hapmap]
rs1867631	0.83[CHD][hapmap]
rs1925342	0.94[JPT][hapmap]
rs2312153	1.00[ASN][1000 genomes]
rs3795531	0.84[ASN][1000 genomes]
rs4655498	0.90[ASN][1000 genomes]
rs4655620	0.90[ASN][1000 genomes]
rs4655630	0.83[CHD][hapmap]
rs6588209	0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs6588214	0.94[JPT][hapmap]
rs6680968	0.90[ASN][1000 genomes]
rs6686606	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs6687137	0.90[ASN][1000 genomes]
rs6701907	0.94[JPT][hapmap]
rs6701988	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72918447	0.91[ASN][1000 genomes]
rs7512692	0.94[ASN][1000 genomes]
rs7519639	0.82[ASN][1000 genomes]
rs7525509	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7526812	0.94[JPT][hapmap]
rs7535076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7537440	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7547794	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7547857	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7547866	0.89[ASN][1000 genomes]
rs7551301	0.81[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs963140	0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003016	chr1:67043120-67067119	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1013476	chr1:67044630-67065911	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1221	chr1:67047908-67092696	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
3	chr1:67044200-67064000	Weak transcription	NH-A	brain
4	chr1:67044800-67064000	Weak transcription	Osteobl	bone
5	chr1:67051000-67064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:67051000-67064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:67051000-67065000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:67051200-67064200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:67051200-67064400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:67051200-67064400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:67051200-67066200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:67052200-67070800	Weak transcription	Fetal Heart	heart
13	chr1:67055400-67064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:67055400-67073000	Weak transcription	Left Ventricle	heart
15	chr1:67057200-67064000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:67057800-67073000	Weak transcription	Aorta	Aorta
17	chr1:67058000-67092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:67058200-67064400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:67059200-67074400	Weak transcription	Fetal Lung	lung
20	chr1:67060800-67064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:67061000-67064200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:67061200-67063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:67061400-67064000	Weak transcription	NHLF	lung
24	chr1:67061800-67063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:67062200-67064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:67062400-67064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:67063200-67066400	Enhancers	NHDF-Ad	bronchial
28	chr1:67063400-67068800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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