Variant report

Variant	rs7556814
Chromosome Location	chr2:187332565-187332566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187331845..187336061-chr2:187348634..187351096,3	K562	blood:
2	chr2:187331928..187334444-chr2:187348052..187350692,2	MCF-7	breast:
3	chr2:187205041..187207847-chr2:187331696..187333365,2	K562	blood:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 183 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs10168318	0.81[AFR][1000 genomes]
rs10172511	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10172850	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10188807	0.86[EUR][1000 genomes]
rs10189971	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10192067	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193268	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10194541	0.88[EUR][1000 genomes]
rs10194719	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10196208	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10203879	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10205506	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10205705	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210844	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1026118	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931239	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931242	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931245	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11673938	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676936	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11683595	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11693737	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11884786	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11889909	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12052331	0.85[EUR][1000 genomes]
rs12053380	0.85[EUR][1000 genomes]
rs12463831	0.86[EUR][1000 genomes]
rs12467212	0.84[ASN][1000 genomes]
rs12473076	0.87[ASN][1000 genomes]
rs12473542	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12475522	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12476313	0.87[ASN][1000 genomes]
rs12477683	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12611673	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612249	0.88[ASN][1000 genomes]
rs12615503	0.86[EUR][1000 genomes]
rs12619990	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12620626	0.83[EUR][1000 genomes]
rs12693440	0.86[EUR][1000 genomes]
rs12693444	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12693447	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693448	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693449	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12998229	0.85[ASN][1000 genomes]
rs12999247	0.86[ASN][1000 genomes]
rs12999438	0.88[ASN][1000 genomes]
rs13003337	0.85[ASN][1000 genomes]
rs13011581	0.88[ASN][1000 genomes]
rs13017038	0.83[ASN][1000 genomes]
rs13025505	0.87[ASN][1000 genomes]
rs13027135	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13029766	0.84[ASN][1000 genomes]
rs13029818	0.88[ASN][1000 genomes]
rs13030324	0.85[ASN][1000 genomes]
rs1349154	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1375321	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1375324	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375325	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375326	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1375327	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375328	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1448851	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448852	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448854	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448860	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448861	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1448863	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1451874	0.87[ASN][1000 genomes]
rs1470230	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1562646	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1562647	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1839193	0.82[EUR][1000 genomes]
rs1900835	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975594	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992930	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2044919	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084485	0.85[ASN][1000 genomes]
rs2084486	0.82[ASN][1000 genomes]
rs2119865	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122087	0.88[ASN][1000 genomes]
rs2197816	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305409	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2370691	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370692	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34229945	0.80[EUR][1000 genomes]
rs3768775	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768776	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144785	0.82[ASN][1000 genomes]
rs4144786	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144822	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144824	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4535008	0.81[EUR][1000 genomes]
rs4666701	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4666703	0.85[ASN][1000 genomes]
rs4666704	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4666705	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667079	0.86[EUR][1000 genomes]
rs4667080	0.86[EUR][1000 genomes]
rs4667081	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667086	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667089	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667091	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4667092	0.85[ASN][1000 genomes]
rs4667093	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667094	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667095	0.84[ASN][1000 genomes]
rs4667097	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667098	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667099	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667100	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667101	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667102	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5008098	0.83[EUR][1000 genomes]
rs56044376	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56393956	0.83[EUR][1000 genomes]
rs56718299	0.86[EUR][1000 genomes]
rs56786415	0.86[EUR][1000 genomes]
rs57289110	0.86[EUR][1000 genomes]
rs58244659	0.86[EUR][1000 genomes]
rs58488407	0.85[EUR][1000 genomes]
rs58579412	0.83[EUR][1000 genomes]
rs59087873	0.86[EUR][1000 genomes]
rs59224241	0.86[EUR][1000 genomes]
rs59360834	0.83[EUR][1000 genomes]
rs60859807	0.86[EUR][1000 genomes]
rs61253791	0.86[EUR][1000 genomes]
rs6434170	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6434171	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434177	0.90[EUR][1000 genomes]
rs6434179	0.88[ASN][1000 genomes]
rs6434181	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434182	0.85[ASN][1000 genomes]
rs6434183	0.85[ASN][1000 genomes]
rs66593320	0.85[EUR][1000 genomes]
rs6712627	0.85[ASN][1000 genomes]
rs6717081	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717965	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6728734	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732188	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732449	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6740632	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741184	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741525	0.83[EUR][1000 genomes]
rs6745187	0.85[EUR][1000 genomes]
rs6745873	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6747289	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6749314	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6752407	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6754179	0.84[ASN][1000 genomes]
rs6754898	0.83[EUR][1000 genomes]
rs6755955	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6759502	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6760230	0.85[EUR][1000 genomes]
rs67917059	0.83[EUR][1000 genomes]
rs716130	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72907565	0.85[EUR][1000 genomes]
rs73035230	0.83[EUR][1000 genomes]
rs73035235	0.83[EUR][1000 genomes]
rs73035261	0.86[EUR][1000 genomes]
rs7558599	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7562659	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7568700	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569642	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7570883	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7571191	0.84[EUR][1000 genomes]
rs7581081	0.82[ASN][1000 genomes]
rs7582052	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7586276	0.83[ASN][1000 genomes]
rs7586291	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586995	0.80[EUR][1000 genomes]
rs7587077	0.83[EUR][1000 genomes]
rs7587079	0.82[EUR][1000 genomes]
rs7587410	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593093	0.81[ASN][1000 genomes]
rs7595269	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597285	0.87[ASN][1000 genomes]
rs7602918	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7606494	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607162	0.84[ASN][1000 genomes]
rs980540	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9807987	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs988110	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7556814	RP11-410E4.1	cis	Artery Tibial	GTEx
rs7556814	RP11-410E4.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187320600-187347400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:187322600-187345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187328000-187350400	Weak transcription	Pancreas	Pancrea
4	chr2:187330000-187333000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:187330800-187334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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