Variant report

Variant	rs12407436
Chromosome Location	chr1:171975455-171975456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10158884	0.96[ASN][1000 genomes]
rs1073940	0.85[ASN][1000 genomes]
rs12088862	0.84[ASN][1000 genomes]
rs12090753	0.85[ASN][1000 genomes]
rs12091784	0.85[ASN][1000 genomes]
rs12403863	0.83[ASN][1000 genomes]
rs55736441	0.82[EUR][1000 genomes]
rs55780414	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59316397	0.83[ASN][1000 genomes]
rs6667114	0.85[ASN][1000 genomes]
rs6668552	0.91[ASN][1000 genomes]
rs6684633	0.97[ASN][1000 genomes]
rs7546327	0.85[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 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	chr1:171949000-171976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:171972800-171976800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:171973000-171976000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:171973000-171976200	Enhancers	HMEC	breast
5	chr1:171973400-171976600	Enhancers	Brain Hippocampus Middle	brain
6	chr1:171973600-171979000	Weak transcription	NH-A	brain
7	chr1:171973800-171975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:171974000-171975800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:171974800-171975600	Enhancers	Fetal Intestine Small	intestine
10	chr1:171974800-171975800	Enhancers	HepG2	liver
11	chr1:171974800-171976000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:171974800-171976000	Enhancers	NHEK	skin
13	chr1:171975000-171975600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:171975000-171976600	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:171975200-171976200	Enhancers	Brain Angular Gyrus	brain
16	chr1:171975400-171975600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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