Variant report

Variant	rs56044376
Chromosome Location	chr2:187337996-187337997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10172511	0.80[EUR][1000 genomes]
rs10172850	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10189971	0.80[EUR][1000 genomes]
rs10192067	0.84[AMR][1000 genomes]
rs10193268	0.80[EUR][1000 genomes]
rs10196208	0.81[EUR][1000 genomes]
rs10205506	0.80[EUR][1000 genomes]
rs10210844	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1026118	0.80[EUR][1000 genomes]
rs10931239	0.80[EUR][1000 genomes]
rs10931242	0.80[EUR][1000 genomes]
rs10931245	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11673938	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11683595	0.80[EUR][1000 genomes]
rs11889909	0.80[EUR][1000 genomes]
rs12475522	0.81[EUR][1000 genomes]
rs12611673	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12619990	0.80[EUR][1000 genomes]
rs12693447	0.80[EUR][1000 genomes]
rs12693449	0.80[EUR][1000 genomes]
rs1349154	0.80[EUR][1000 genomes]
rs1375321	0.80[EUR][1000 genomes]
rs1375324	0.80[EUR][1000 genomes]
rs1375325	0.80[EUR][1000 genomes]
rs1375326	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1448851	0.80[EUR][1000 genomes]
rs1448852	0.80[EUR][1000 genomes]
rs1448854	0.80[EUR][1000 genomes]
rs1448860	0.80[EUR][1000 genomes]
rs1448863	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1470230	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1562646	0.80[EUR][1000 genomes]
rs1562647	0.80[EUR][1000 genomes]
rs1975594	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1992930	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2044919	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2119865	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2197816	0.80[EUR][1000 genomes]
rs2305409	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2370691	0.80[EUR][1000 genomes]
rs2370692	0.80[EUR][1000 genomes]
rs3768775	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3768776	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4144786	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4144822	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4144824	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4666701	0.80[EUR][1000 genomes]
rs4666704	0.88[AMR][1000 genomes]
rs4666705	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667081	0.80[EUR][1000 genomes]
rs4667086	0.81[EUR][1000 genomes]
rs4667089	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4667091	0.82[AMR][1000 genomes]
rs4667093	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4667094	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667097	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4667098	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667099	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4667100	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667101	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667102	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6434171	0.80[EUR][1000 genomes]
rs6434177	0.83[EUR][1000 genomes]
rs6434181	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6717081	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6717965	0.80[EUR][1000 genomes]
rs6732188	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6732449	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6740632	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6741184	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6747289	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6749314	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6752407	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6759502	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7556814	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7562659	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7568700	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7569642	0.83[AMR][1000 genomes]
rs7570883	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7582052	0.84[AMR][1000 genomes]
rs7586291	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7587410	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7595269	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7606494	0.80[EUR][1000 genomes]
rs980540	0.80[EUR][1000 genomes]
rs9807987	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs988110	0.88[AMR][1000 genomes];0.88[EUR][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 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	chr2:187336000-187339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:187337000-187347000	Weak transcription	HepG2	liver
6	chr2:187337000-187348000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:187337200-187339200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:187337200-187339600	Weak transcription	Fetal Intestine Small	intestine

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