Variant report

Variant	rs2004638
Chromosome Location	chr11:75471012-75471013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10160802	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1017713	0.90[CEU][hapmap]
rs10219339	0.90[CEU][hapmap]
rs10793124	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10793125	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10793126	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10793127	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10793128	0.87[EUR][1000 genomes]
rs10793129	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10793130	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10793132	0.91[CEU][hapmap]
rs10793135	0.90[CEU][hapmap]
rs10899109	0.90[EUR][1000 genomes]
rs10899110	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs10899112	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899113	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10899114	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899115	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899116	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10899118	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899119	0.83[CEU][hapmap]
rs10899121	0.90[CEU][hapmap];0.90[AMR][1000 genomes]
rs10899122	0.89[CEU][hapmap];0.90[AMR][1000 genomes]
rs10899123	0.90[CEU][hapmap];0.86[AMR][1000 genomes]
rs10899124	0.83[CEU][hapmap]
rs10899127	0.91[CEU][hapmap]
rs10899128	0.91[CEU][hapmap]
rs10899129	0.90[CEU][hapmap]
rs10899134	0.90[CEU][hapmap]
rs10899136	0.90[CEU][hapmap]
rs10899138	0.82[CEU][hapmap]
rs10899141	0.90[CEU][hapmap]
rs10899145	0.90[CEU][hapmap]
rs11236514	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11236515	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11236516	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11236517	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs11236518	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11236519	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11236525	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236526	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236527	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11236528	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11236530	0.80[CEU][hapmap]
rs11236531	0.90[CEU][hapmap];0.90[AMR][1000 genomes]
rs11236533	0.90[CEU][hapmap]
rs11236534	0.91[CEU][hapmap]
rs11236540	0.90[CEU][hapmap]
rs11236545	0.81[CEU][hapmap]
rs11236546	0.82[CEU][hapmap]
rs11236552	0.90[CEU][hapmap]
rs11236553	0.90[CEU][hapmap]
rs11236554	0.83[CEU][hapmap]
rs11236555	0.91[CEU][hapmap]
rs11821808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11822903	0.81[CEU][hapmap]
rs11823869	0.83[CEU][hapmap]
rs1219549	0.81[ASN][1000 genomes]
rs1219550	0.81[ASN][1000 genomes]
rs12222542	0.91[CEU][hapmap];0.86[AMR][1000 genomes]
rs12222995	0.89[CEU][hapmap]
rs12278224	0.90[CEU][hapmap]
rs12278257	0.90[CEU][hapmap]
rs12280456	0.83[CEU][hapmap]
rs12280464	0.81[CEU][hapmap]
rs1458836	0.90[CEU][hapmap]
rs17134394	0.90[CEU][hapmap]
rs1806895	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2008476	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2168947	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28802056	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3060	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3740849	0.90[CEU][hapmap]
rs3740850	0.90[CEU][hapmap]
rs498936	0.81[ASN][1000 genomes]
rs57188913	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58340821	0.82[AMR][1000 genomes]
rs58411334	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59913369	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592615	0.90[CEU][hapmap]
rs7101806	0.90[CEU][hapmap]
rs7107742	0.90[CEU][hapmap]
rs7108178	0.90[CEU][hapmap]
rs7118039	0.90[CEU][hapmap]
rs72997616	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7933235	0.90[CEU][hapmap]
rs7944950	0.80[AMR][1000 genomes]
rs7947418	0.90[CEU][hapmap]
rs7947512	0.90[AMR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2004638	RP11-535A19.1	cis	Whole Blood	GTEx
rs2004638	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75466200-75475800	Enhancers	Liver	Liver
2	chr11:75468600-75475400	Enhancers	HepG2	liver
3	chr11:75469800-75471800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:75470200-75473000	Enhancers	HUVEC	blood vessel
5	chr11:75470200-75476200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:75470400-75473000	Weak transcription	Spleen	Spleen
7	chr11:75470600-75474000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:75470800-75471200	Enhancers	Fetal Intestine Small	intestine
9	chr11:75471000-75472000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:75471000-75472000	Weak transcription	Stomach Mucosa	stomach

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