Variant report

Variant	rs17301146
Chromosome Location	chr1:57400261-57400262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17114516	1.00[YRI][hapmap]
rs17114524	1.00[YRI][hapmap]
rs17300936	0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55646893	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55915656	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7535170	1.00[YRI][hapmap]
rs9661996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988276	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];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
rs17301146	BSND	cis	parietal	SCAN
rs17301146	C1orf175	cis	parietal	SCAN

Chromatin state (count:19 , 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	chr1:57397800-57400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:57398800-57400400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:57399800-57400800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:57399800-57400800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:57399800-57401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:57399800-57401000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:57399800-57401000	Enhancers	Osteobl	bone
12	chr1:57400000-57400600	Enhancers	Adipose Nuclei	Adipose
13	chr1:57400000-57400800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:57400000-57401600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr1:57400200-57400400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:57400200-57400400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr1:57400200-57400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:57400200-57401000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:57400200-57401000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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