Variant report

Variant	rs10250794
Chromosome Location	chr7:50523553-50523554
allele	C/T
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:16)

rs_ID	r²[population]
rs1002371	0.88[ASN][1000 genomes]
rs10224094	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235371	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261922	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270682	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273657	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575544	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11575575	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573146	0.88[ASN][1000 genomes]
rs55693922	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782136	0.87[ASN][1000 genomes]
rs62445903	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6944650	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972091	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656639	0.96[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50519000-50523800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:50519000-50523800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:50519000-50524400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:50519000-50529400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:50519200-50524000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:50519200-50524000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:50522600-50525400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50523400-50524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:50523400-50524800	Enhancers	Liver	Liver
14	chr7:50523400-50525400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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