Variant report

Variant	rs12082341
Chromosome Location	chr1:67052684-67052685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11208917	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208918	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11208919	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11810679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11811921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12058115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12061222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12070181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12077193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12079953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12091274	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12092996	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]
rs4655635	1.00[ASN][1000 genomes]
rs6678394	0.87[ASN][1000 genomes]
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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013351	chr1:67039730-67055937	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
2	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
3	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
4	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	chr1:67041600-67062400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:67043200-67056800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:67043400-67056200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
6	chr1:67044000-67057200	Weak transcription	Aorta	Aorta
7	chr1:67044200-67064000	Weak transcription	NH-A	brain
8	chr1:67044800-67064000	Weak transcription	Osteobl	bone
9	chr1:67045600-67056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:67046400-67060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:67049600-67062600	Weak transcription	Psoas Muscle	Psoas
12	chr1:67051000-67056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:67051000-67060400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:67051000-67061600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:67051000-67064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:67051000-67064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:67051000-67065000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:67051200-67055200	Weak transcription	HepG2	liver
19	chr1:67051200-67056200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:67051200-67056400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:67051200-67059000	Weak transcription	NHLF	lung
22	chr1:67051200-67063200	Weak transcription	NHDF-Ad	bronchial
23	chr1:67051200-67064200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:67051200-67064400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:67051200-67064400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:67051200-67066200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:67051600-67053800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:67052200-67070800	Weak transcription	Fetal Heart	heart

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