Variant report

Variant	rs1473623
Chromosome Location	chr2:128196220-128196221
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]
rs10193937	0.89[ASN][1000 genomes]
rs10803586	0.89[ASN][1000 genomes]
rs11683986	0.90[CEU][hapmap]
rs5937	0.81[CEU][hapmap]
rs61131370	0.92[ASN][1000 genomes]
rs6716856	0.89[ASN][1000 genomes]
rs6745666	0.89[ASN][1000 genomes]
rs6755028	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs777567	0.88[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv519035	chr2:128195244-128210400	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128181400-128209800	Weak transcription	Right Atrium	heart
2	chr2:128181600-128197200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:128183000-128197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:128194000-128196800	Enhancers	Liver	Liver
5	chr2:128194600-128197200	Enhancers	Gastric	stomach
6	chr2:128195000-128196400	Enhancers	Fetal Intestine Large	intestine
7	chr2:128195200-128196400	Enhancers	Fetal Intestine Small	intestine
8	chr2:128195200-128197000	Enhancers	Stomach Mucosa	stomach
9	chr2:128195200-128197400	Enhancers	Pancreas	Pancrea
10	chr2:128195400-128196600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:128195400-128196600	Flanking Active TSS	HepG2	liver
12	chr2:128195600-128196400	Enhancers	A549	lung
13	chr2:128195600-128196600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:128195800-128197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:128196000-128196400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:128196000-128197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:128196200-128196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:128196200-128196800	Weak transcription	Lung	lung
19	chr2:128196200-128211600	Weak transcription	Colonic Mucosa	Colon

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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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