Variant report

Variant	rs11811895
Chromosome Location	chr1:67060977-67060978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11208917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810679	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811511	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12058115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061081	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12070181	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12077193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12079953	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12082341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12083409	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12091274	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12092996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12117202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4655635	1.00[ASN][1000 genomes]
rs6678394	0.87[ASN][1000 genomes]
rs6695490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72916344	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72916400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918426	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72918430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72918438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7535237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67041600-67062400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
4	chr1:67044200-67064000	Weak transcription	NH-A	brain
5	chr1:67044800-67064000	Weak transcription	Osteobl	bone
6	chr1:67049600-67062600	Weak transcription	Psoas Muscle	Psoas
7	chr1:67051000-67061600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:67051000-67064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:67051000-67064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:67051000-67065000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:67051200-67063200	Weak transcription	NHDF-Ad	bronchial
12	chr1:67051200-67064200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:67051200-67064400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:67051200-67064400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:67051200-67066200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:67052200-67070800	Weak transcription	Fetal Heart	heart
17	chr1:67053800-67062200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:67055400-67064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:67055400-67073000	Weak transcription	Left Ventricle	heart
20	chr1:67055600-67061400	Weak transcription	Fetal Brain Female	brain
21	chr1:67056200-67061000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67057200-67064000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:67057800-67073000	Weak transcription	Aorta	Aorta
24	chr1:67058000-67092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:67058200-67064400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:67058400-67061000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:67058600-67061800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:67059000-67061400	Strong transcription	NHLF	lung
29	chr1:67059200-67074400	Weak transcription	Fetal Lung	lung
30	chr1:67060200-67061000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:67060200-67061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:67060400-67062200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:67060800-67064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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