Variant report

Variant	rs2082182
Chromosome Location	chr2:128292280-128292281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128291415..128294126-chr2:128456158..128458697,2	K562	blood:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10496663	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap]
rs10928769	0.80[ASN][1000 genomes]
rs11678062	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11681225	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11682864	0.80[ASN][1000 genomes]
rs11685630	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688201	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11693449	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11892245	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs12053309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12233101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616100	0.98[ASN][1000 genomes]
rs12616200	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618494	0.94[CHB][hapmap]
rs12619773	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620037	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17015334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17015401	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1864553	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2099209	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2116026	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2163346	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2288655	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35208523	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732205	0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs3889307	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs55688542	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56056404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56100618	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56261855	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56285909	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56327685	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62156576	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62156599	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62156603	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6735779	1.00[YRI][hapmap]
rs6758364	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs72843327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586672	0.94[CHB][hapmap];0.85[CHD][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs777556	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs873099	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[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	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv998519	chr2:128292190-128352032	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2082182	GYPC	cis	parietal	SCAN
rs2082182	AC068282.3	cis	Artery Tibial	GTEx
rs2082182	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs2082182	AC068282.3	cis	Esophagus Mucosa	GTEx
rs2082182	AC068282.3	cis	Whole Blood	GTEx
rs2082182	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2082182	MAP3K2	cis	multi-tissue	Pritchard
rs2082182	AC068282.3	cis	Nerve Tibial	GTEx
rs2082182	AC068282.3	cis	Muscle Skeletal	GTEx
rs2082182	AC068282.3	cis	lung	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
3	chr2:128289000-128294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:128289200-128293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:128291000-128293200	Enhancers	Fetal Intestine Large	intestine
6	chr2:128291600-128293000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:128291600-128293200	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:128291600-128293200	Enhancers	Fetal Intestine Small	intestine
9	chr2:128292000-128292400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:128292000-128293200	Enhancers	Colonic Mucosa	Colon
11	chr2:128292200-128292600	Enhancers	Small Intestine	intestine
12	chr2:128292200-128293000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:128292200-128294000	Bivalent Enhancer	HepG2	liver

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