Variant report

Variant	rs17301153
Chromosome Location	chr1:57400984-57400985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11537744	1.00[ASN][1000 genomes]
rs17418461	1.00[ASN][1000 genomes]
rs17451091	1.00[ASN][1000 genomes]
rs17451521	1.00[ASN][1000 genomes]
rs56143927	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585061	1.00[ASN][1000 genomes]
rs586902	1.00[ASN][1000 genomes]
rs605632	1.00[ASN][1000 genomes]
rs619545	1.00[ASN][1000 genomes]
rs620709	1.00[ASN][1000 genomes]
rs656598	1.00[ASN][1000 genomes]
rs6699859	1.00[ASN][1000 genomes]
rs706470	1.00[ASN][1000 genomes]
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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17301153	BSND	cis	parietal	SCAN
rs17301153	HMBOX1	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57395600-57410000	Strong transcription	Liver	Liver
2	chr1:57397000-57401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:57397200-57404400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:57397400-57401200	Enhancers	NHDF-Ad	bronchial
5	chr1:57399800-57401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:57399800-57401000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:57399800-57401000	Enhancers	Osteobl	bone
8	chr1:57400000-57401600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr1:57400200-57401000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:57400200-57401000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:57400400-57401000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:57400400-57401200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57400400-57404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:57400800-57401000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:57400800-57401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:57400800-57404600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:57400800-57405000	Weak transcription	H1 Derived Neuronal Progenitor 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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