Variant report

Variant	rs2353716
Chromosome Location	chr3:54594445-54594446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:228)

rs_ID	r²[population]
rs10095388	0.91[EUR][1000 genomes]
rs10096202	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100386	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10104111	0.81[EUR][1000 genomes]
rs10104360	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109623	0.89[EUR][1000 genomes]
rs10866886	0.85[EUR][1000 genomes]
rs10866892	0.90[ASN][1000 genomes]
rs10866897	0.83[ASN][1000 genomes]
rs10866898	0.83[ASN][1000 genomes]
rs11136138	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11136140	0.90[EUR][1000 genomes]
rs11136142	0.90[EUR][1000 genomes]
rs11136144	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11136145	0.81[AMR][1000 genomes]
rs11136147	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11136149	0.91[EUR][1000 genomes]
rs11136150	0.81[ASN][1000 genomes]
rs11136151	0.81[ASN][1000 genomes]
rs11136152	0.90[EUR][1000 genomes]
rs11136153	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11136154	0.80[ASN][1000 genomes]
rs11136155	0.92[EUR][1000 genomes]
rs11136156	0.89[EUR][1000 genomes]
rs11136160	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11136162	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11136163	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11136166	0.92[ASN][1000 genomes]
rs11136170	0.92[ASN][1000 genomes]
rs11136171	0.92[ASN][1000 genomes]
rs11136173	0.90[ASN][1000 genomes]
rs11136174	0.90[ASN][1000 genomes]
rs11136175	0.90[ASN][1000 genomes]
rs11136177	0.90[ASN][1000 genomes]
rs11136180	0.88[ASN][1000 genomes]
rs11136184	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11136185	0.90[ASN][1000 genomes]
rs11136186	0.89[ASN][1000 genomes]
rs11136187	0.89[ASN][1000 genomes]
rs11136189	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11136190	0.89[ASN][1000 genomes]
rs11136191	0.89[ASN][1000 genomes]
rs11136195	0.84[ASN][1000 genomes]
rs1115877	0.80[ASN][1000 genomes]
rs1115878	0.81[ASN][1000 genomes]
rs1115879	0.88[EUR][1000 genomes]
rs1115880	0.86[EUR][1000 genomes]
rs11774289	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775579	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11775673	0.80[ASN][1000 genomes]
rs11778665	0.84[ASN][1000 genomes]
rs11783740	0.81[AMR][1000 genomes]
rs11784374	0.81[AMR][1000 genomes]
rs11784755	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11785893	0.89[ASN][1000 genomes]
rs11786820	0.83[ASN][1000 genomes]
rs11786875	0.86[ASN][1000 genomes]
rs12056389	0.80[EUR][1000 genomes]
rs12155834	0.85[ASN][1000 genomes]
rs12541172	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12541564	0.88[ASN][1000 genomes]
rs12543341	0.80[ASN][1000 genomes]
rs12543826	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12545668	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12546363	0.85[ASN][1000 genomes]
rs12546708	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12548509	0.82[ASN][1000 genomes]
rs12549513	0.88[ASN][1000 genomes]
rs12674573	0.89[ASN][1000 genomes]
rs12674611	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12675922	0.89[ASN][1000 genomes]
rs12676739	0.88[ASN][1000 genomes]
rs12676760	0.88[ASN][1000 genomes]
rs12676929	0.89[ASN][1000 genomes]
rs12677841	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12678186	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681777	0.89[ASN][1000 genomes]
rs12682576	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1304121	0.92[EUR][1000 genomes]
rs13248644	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13251019	0.89[ASN][1000 genomes]
rs13252120	0.82[AMR][1000 genomes]
rs13252503	0.87[ASN][1000 genomes]
rs13252675	0.89[ASN][1000 genomes]
rs13255014	0.86[ASN][1000 genomes]
rs13255919	0.89[ASN][1000 genomes]
rs13259505	0.89[ASN][1000 genomes]
rs13260584	0.80[ASN][1000 genomes]
rs13260835	0.85[ASN][1000 genomes]
rs13262123	0.90[ASN][1000 genomes]
rs13262190	0.88[ASN][1000 genomes]
rs13262208	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13263282	0.81[AMR][1000 genomes]
rs13263476	0.84[ASN][1000 genomes]
rs13264112	0.92[EUR][1000 genomes]
rs13265574	0.86[ASN][1000 genomes]
rs13271437	0.85[ASN][1000 genomes]
rs13274190	0.89[EUR][1000 genomes]
rs13274345	0.89[ASN][1000 genomes]
rs13274843	0.90[EUR][1000 genomes]
rs13275098	0.92[ASN][1000 genomes]
rs13277532	0.88[ASN][1000 genomes]
rs13278259	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13279903	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13279971	0.88[ASN][1000 genomes]
rs13281938	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1587300	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1603270	0.92[ASN][1000 genomes]
rs1603281	0.81[ASN][1000 genomes]
rs168608	0.92[EUR][1000 genomes]
rs1826756	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs187219	0.92[EUR][1000 genomes]
rs187220	0.92[EUR][1000 genomes]
rs1874739	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874741	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs189642	0.91[EUR][1000 genomes]
rs2101843	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2101844	0.90[EUR][1000 genomes]
rs2353201	0.92[EUR][1000 genomes]
rs2353710	0.92[EUR][1000 genomes]
rs2353711	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2354250	0.89[ASN][1000 genomes]
rs28540082	0.92[EUR][1000 genomes]
rs28878592	0.89[EUR][1000 genomes]
rs359779	0.93[EUR][1000 genomes]
rs359781	0.88[EUR][1000 genomes]
rs359782	0.91[EUR][1000 genomes]
rs359783	0.92[EUR][1000 genomes]
rs359784	0.92[EUR][1000 genomes]
rs359785	0.91[EUR][1000 genomes]
rs359786	0.85[EUR][1000 genomes]
rs359789	0.93[EUR][1000 genomes]
rs359790	0.92[EUR][1000 genomes]
rs359801	0.90[EUR][1000 genomes]
rs359802	0.92[EUR][1000 genomes]
rs359806	0.91[EUR][1000 genomes]
rs359807	0.92[EUR][1000 genomes]
rs359808	0.92[EUR][1000 genomes]
rs359813	0.92[EUR][1000 genomes]
rs359817	0.91[EUR][1000 genomes]
rs359818	0.92[EUR][1000 genomes]
rs359821	0.92[EUR][1000 genomes]
rs359823	0.92[EUR][1000 genomes]
rs359824	0.90[EUR][1000 genomes]
rs359826	0.92[EUR][1000 genomes]
rs359827	0.92[EUR][1000 genomes]
rs359828	0.92[EUR][1000 genomes]
rs359832	0.92[EUR][1000 genomes]
rs359838	0.92[EUR][1000 genomes]
rs359839	0.92[EUR][1000 genomes]
rs381810	0.92[EUR][1000 genomes]
rs383016	0.91[EUR][1000 genomes]
rs4129529	0.88[ASN][1000 genomes]
rs4285502	0.80[EUR][1000 genomes]
rs4326398	0.91[EUR][1000 genomes]
rs4386988	0.85[ASN][1000 genomes]
rs4394407	0.86[ASN][1000 genomes]
rs4397418	0.85[ASN][1000 genomes]
rs4412383	0.88[ASN][1000 genomes]
rs447622	0.92[EUR][1000 genomes]
rs4527883	0.88[ASN][1000 genomes]
rs4532605	0.85[ASN][1000 genomes]
rs4642664	0.84[ASN][1000 genomes]
rs4872552	0.90[EUR][1000 genomes]
rs4872684	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4872685	0.90[ASN][1000 genomes]
rs4872688	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4872690	0.82[AMR][1000 genomes]
rs4872691	0.82[AMR][1000 genomes]
rs4872697	0.92[EUR][1000 genomes]
rs4872698	0.92[EUR][1000 genomes]
rs4872699	0.90[EUR][1000 genomes]
rs4872702	0.90[EUR][1000 genomes]
rs4872703	0.80[EUR][1000 genomes]
rs4872707	0.90[EUR][1000 genomes]
rs4872709	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4873034	0.85[ASN][1000 genomes]
rs4873042	0.87[ASN][1000 genomes]
rs4873044	0.88[ASN][1000 genomes]
rs4873048	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873058	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873061	0.92[EUR][1000 genomes]
rs4873062	0.92[EUR][1000 genomes]
rs4873063	0.83[ASN][1000 genomes]
rs4873064	0.89[EUR][1000 genomes]
rs4873068	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873070	0.92[EUR][1000 genomes]
rs4873072	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873074	0.91[EUR][1000 genomes]
rs4873076	0.91[EUR][1000 genomes]
rs4873079	0.91[EUR][1000 genomes]
rs56686265	0.80[EUR][1000 genomes]
rs57246192	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57654913	0.92[EUR][1000 genomes]
rs58157367	0.80[EUR][1000 genomes]
rs59905796	0.91[EUR][1000 genomes]
rs59993817	0.80[EUR][1000 genomes]
rs6558220	0.92[EUR][1000 genomes]
rs6558231	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67713724	0.89[EUR][1000 genomes]
rs6983826	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988848	0.84[EUR][1000 genomes]
rs7001381	0.90[EUR][1000 genomes]
rs7011027	0.81[AMR][1000 genomes]
rs72641018	0.80[EUR][1000 genomes]
rs7293702	0.92[EUR][1000 genomes]
rs7293707	0.81[EUR][1000 genomes]
rs7293764	0.92[EUR][1000 genomes]
rs7293770	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7293777	0.92[EUR][1000 genomes]
rs73576452	0.81[EUR][1000 genomes]
rs7388087	0.92[EUR][1000 genomes]
rs7815133	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7818028	0.90[EUR][1000 genomes]
rs7828496	0.92[EUR][1000 genomes]
rs7836179	0.84[ASN][1000 genomes]
rs7838647	0.92[EUR][1000 genomes]
rs7842677	0.92[EUR][1000 genomes]
rs7842684	0.92[EUR][1000 genomes]
rs8185869	0.92[ASN][1000 genomes]
rs8188527	0.82[ASN][1000 genomes]
rs8188612	0.86[ASN][1000 genomes]
rs9644226	0.81[EUR][1000 genomes]
rs9650442	0.90[EUR][1000 genomes]
rs9650453	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9657305	0.90[EUR][1000 genomes]
rs9657314	0.83[AMR][1000 genomes]
rs968737	0.92[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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54581600-54606600	Weak transcription	Psoas Muscle	Psoas
2	chr3:54585000-54598400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:54592400-54605000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:54592400-54605800	Weak transcription	Esophagus	oesophagus
5	chr3:54592800-54598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:54593000-54598400	Weak transcription	NHEK	skin
7	chr3:54593200-54597000	Weak transcription	HMEC	breast

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