Variant report

Variant	rs11780250
Chromosome Location	chr8:40008422-40008423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10103059	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12541392	0.98[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12546288	0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12548579	0.89[ASN][1000 genomes]
rs28398043	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28687838	0.98[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4398898	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6983906	0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:40002600-40009200	Weak transcription	Pancreas	Pancrea
2	chr8:40003000-40009200	Weak transcription	Ovary	ovary
3	chr8:40003000-40009400	Weak transcription	Fetal Kidney	kidney
4	chr8:40003800-40010000	Weak transcription	Fetal Stomach	stomach
5	chr8:40006400-40008800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:40006600-40009000	Weak transcription	HepG2	liver
7	chr8:40006600-40010000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:40006800-40009200	Weak transcription	Small Intestine	intestine
9	chr8:40007000-40009400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:40008000-40009000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:40008000-40009000	Weak transcription	A549	lung
12	chr8:40008000-40009200	Weak transcription	Fetal Lung	lung
13	chr8:40008000-40009200	Weak transcription	Lung	lung
14	chr8:40008000-40010400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:40008200-40008600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:40008200-40008600	Weak transcription	Rectal Smooth Muscle	rectum

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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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