Variant report

Variant	rs12463538
Chromosome Location	chr2:128196854-128196855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128190834..128192414-chr2:128194744..128197239,2	K562	blood:
2	chr2:128195490..128198438-chr2:128232542..128234946,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12151780	0.95[ASN][1000 genomes]
rs12464295	0.94[ASN][1000 genomes]
rs12468304	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476767	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001648	0.84[ASN][1000 genomes]
rs1401296	0.93[ASN][1000 genomes]
rs1518759	0.92[ASN][1000 genomes]
rs1799808	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1967425	0.94[ASN][1000 genomes]
rs2069912	0.81[ASN][1000 genomes]
rs2069914	0.80[ASN][1000 genomes]
rs2069915	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2069916	0.84[EUR][1000 genomes]
rs2069920	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2069921	0.84[ASN][1000 genomes]
rs2069924	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2069931	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2069933	0.93[ASN][1000 genomes]
rs4662729	0.92[ASN][1000 genomes]
rs4662730	0.93[ASN][1000 genomes]
rs5936	0.84[ASN][1000 genomes]
rs62160290	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710535	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728362	0.93[ASN][1000 genomes]
rs6749002	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6754772	0.96[ASN][1000 genomes]
rs6754999	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs971207	0.84[ASN][1000 genomes]
rs973760	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv524607	chr2:128196424-128218364	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 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	chr2:128194600-128197200	Enhancers	Gastric	stomach
5	chr2:128195200-128197000	Enhancers	Stomach Mucosa	stomach
6	chr2:128195200-128197400	Enhancers	Pancreas	Pancrea
7	chr2:128195800-128197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:128196000-128197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:128196200-128211600	Weak transcription	Colonic Mucosa	Colon
10	chr2:128196600-128197600	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr2:128196600-128198400	Enhancers	HepG2	liver
12	chr2:128196800-128197200	Weak transcription	Liver	Liver
13	chr2:128196800-128197400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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