Variant report

Variant	rs413431
Chromosome Location	chr2:39176695-39176696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10203995	1.00[CEU][hapmap]
rs1037495	0.84[JPT][hapmap]
rs1043793	0.89[JPT][hapmap]
rs368451	0.84[CHB][hapmap]
rs369749	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4670269	0.82[JPT][hapmap]

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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs413431	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
4	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
5	chr2:39163800-39183600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:39174400-39176800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:39174600-39176800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:39175000-39186600	Weak transcription	Ovary	ovary
9	chr2:39175000-39187000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:39175200-39179200	Weak transcription	Fetal Lung	lung
11	chr2:39175200-39186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:39175800-39176800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:39175800-39176800	Flanking Active TSS	HepG2	liver
14	chr2:39176000-39176800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:39176200-39179600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:39176400-39177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:39176600-39186600	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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