Variant report

Variant	rs12117202
Chromosome Location	chr1:67062569-67062570
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10493412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10493413	1.00[CHB][hapmap]
rs10889628	0.90[CEU][hapmap]
rs10889630	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs10889646	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs11208917	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208918	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11208921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11208933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208943	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs11208946	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs1159632	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11810610	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12058115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12070181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12077193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12079953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12081718	1.00[CEU][hapmap]
rs12082341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12091274	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12092996	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12137531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12141816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12407460	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1325262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1325264	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1338188	1.00[CEU][hapmap]
rs1338189	1.00[CEU][hapmap]
rs1338190	0.91[CEU][hapmap]
rs1536112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17129256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17129313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17129315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17129318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17436311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1998716	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2025594	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs4147266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4655635	1.00[ASN][1000 genomes]
rs6678394	0.87[ASN][1000 genomes]
rs6687096	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6689755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6692318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6699200	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs6703606	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs72916344	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72916400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918426	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72918430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918438	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7535237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs975878	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]

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:30 , 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	chr1:67049600-67062600	Weak transcription	Psoas Muscle	Psoas
6	chr1:67051000-67064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:67051000-67064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:67051000-67065000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:67051200-67063200	Weak transcription	NHDF-Ad	bronchial
10	chr1:67051200-67064200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:67051200-67064400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:67051200-67064400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:67051200-67066200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:67052200-67070800	Weak transcription	Fetal Heart	heart
15	chr1:67055400-67064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:67055400-67073000	Weak transcription	Left Ventricle	heart
17	chr1:67057200-67064000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:67057800-67073000	Weak transcription	Aorta	Aorta
19	chr1:67058000-67092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:67058200-67064400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:67059200-67074400	Weak transcription	Fetal Lung	lung
22	chr1:67060800-67064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:67061000-67064200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:67061200-67063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:67061400-67064000	Weak transcription	NHLF	lung
26	chr1:67061800-67063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:67062000-67063400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:67062200-67063200	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:67062200-67064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:67062400-67064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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