Variant report

Variant	rs1375617
Chromosome Location	chr2:142798939-142798940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13394203	0.82[CEU][hapmap]
rs1375615	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435601	1.00[CHD][hapmap]
rs1449500	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17774450	1.00[CEU][hapmap]
rs2122241	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][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	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142794400-142802400	Enhancers	NH-A	brain
2	chr2:142795800-142802600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:142796200-142801800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:142796200-142809800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142797800-142800000	Enhancers	HMEC	breast
6	chr2:142798200-142799000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:142798200-142799000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:142798400-142799000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:142798400-142799000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:142798400-142799000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:142798400-142799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:142798400-142800400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:142798400-142800400	Enhancers	Brain Anterior Caudate	brain
14	chr2:142798400-142800400	Enhancers	Hela-S3	cervix
15	chr2:142798800-142799000	Enhancers	Brain Angular Gyrus	brain
16	chr2:142798800-142800400	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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