Variant report

Variant	rs11994022
Chromosome Location	chr8:130178201-130178202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11777951	0.88[AMR][1000 genomes]
rs11784062	0.80[AMR][1000 genomes]
rs4418312	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4617118	0.82[EUR][1000 genomes]
rs72730213	0.88[AMR][1000 genomes]
rs72730214	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72730215	0.88[AMR][1000 genomes]
rs72730217	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72730218	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130176200-130178400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:130176400-130179600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:130177000-130178600	Genic enhancers	Dnd41	blood
4	chr8:130177200-130178800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:130177600-130178800	Genic enhancers	Fetal Thymus	thymus
6	chr8:130177800-130183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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