Variant report

Variant	rs2970055
Chromosome Location	chr17:50221978-50221979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1393729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393734	0.82[AMR][1000 genomes]
rs1503048	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970051	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2970053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970054	0.99[ASN][1000 genomes]
rs2970056	1.00[ASN][1000 genomes]
rs9910483	0.84[AMR][1000 genomes]
rs9914711	0.87[AMR][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	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2970055	SLC35B1	cis	cerebellum	SCAN
rs2970055	LRRC46	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50216200-50222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:50216400-50222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:50219200-50222400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr17:50219200-50223000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:50219600-50222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:50219800-50222200	Weak transcription	HMEC	breast
7	chr17:50221000-50223400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr17:50221000-50228200	Enhancers	NHEK	skin
9	chr17:50221400-50222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:50221400-50222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:50221600-50222600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:50221600-50224400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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