Variant report

Variant	rs7301628
Chromosome Location	chr12:44351963-44351964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10748381	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182303	0.82[YRI][hapmap]
rs12229940	0.83[YRI][hapmap]
rs1320918	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17093833	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17093848	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17093850	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1819128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582491	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133980	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7302694	1.00[AMR][1000 genomes]
rs7971156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976155	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
2	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:44343600-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
7	chr12:44346000-44357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44346200-44363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:44351400-44352600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:44351800-44352000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:44351800-44352000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:44351800-44352000	Enhancers	Fetal Brain Male	brain
13	chr12:44351800-44352200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:44351800-44352200	Enhancers	HSMM	muscle
15	chr12:44351800-44352400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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