Variant report

Variant	rs585061
Chromosome Location	chr1:57367700-57367701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11537744	1.00[ASN][1000 genomes]
rs17301153	1.00[ASN][1000 genomes]
rs17418461	1.00[ASN][1000 genomes]
rs17451091	1.00[ASN][1000 genomes]
rs17451521	1.00[ASN][1000 genomes]
rs56143927	1.00[ASN][1000 genomes]
rs586902	1.00[ASN][1000 genomes]
rs605632	1.00[ASN][1000 genomes]
rs608567	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs619545	0.82[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs620709	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs656598	1.00[ASN][1000 genomes]
rs6699859	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706470	0.94[GIH][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];1.00[ASN][1000 genomes]
rs706476	0.86[MEX][hapmap]
rs706477	1.00[YRI][hapmap]
rs706479	1.00[YRI][hapmap]
rs737189	1.00[ASN][1000 genomes]
rs885391	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs585061	BSND	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57362400-57369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
3	chr1:57364600-57370400	Weak transcription	Gastric	stomach
4	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
5	chr1:57366400-57368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57366600-57368800	Enhancers	Fetal Intestine Small	intestine
7	chr1:57366800-57368200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:57367000-57368000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:57367000-57368000	Enhancers	NHDF-Ad	bronchial
10	chr1:57367200-57368000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:57367200-57368000	Enhancers	HepG2	liver
12	chr1:57367200-57378400	Enhancers	Liver	Liver
13	chr1:57367400-57368000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:57367600-57368000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:57367600-57368000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:57367600-57368000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:57367600-57368000	Enhancers	Hela-S3	cervix
18	chr1:57367600-57368000	Enhancers	NHLF	lung

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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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