Variant report

Variant	rs4508623
Chromosome Location	chr2:72655020-72655021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72643084..72645013-chr2:72652645..72655633,3	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10173152	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175824	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176044	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207869	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496183	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496185	1.00[ASN][1000 genomes]
rs11126367	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	0.85[YRI][hapmap]
rs11674508	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675268	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs11680197	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681845	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682749	1.00[ASN][1000 genomes]
rs11684981	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685876	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11685903	1.00[ASN][1000 genomes]
rs11689707	1.00[ASN][1000 genomes]
rs11695000	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11884162	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11884225	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884869	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887356	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890482	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891573	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892598	1.00[ASN][1000 genomes]
rs11894521	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897200	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903453	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903908	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903912	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016873	0.81[YRI][hapmap]
rs1517179	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007922	1.00[ASN][1000 genomes]
rs17007926	1.00[ASN][1000 genomes]
rs17007939	1.00[ASN][1000 genomes]
rs17007984	1.00[ASN][1000 genomes]
rs17008057	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008082	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008186	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17008188	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17008208	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs17008293	1.00[ASN][1000 genomes]
rs17008315	1.00[ASN][1000 genomes]
rs17040320	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914339	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949377	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2901190	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4507127	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	0.85[YRI][hapmap]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55727931	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825364	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55840408	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939880	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109129	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173504	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178437	1.00[ASN][1000 genomes]
rs56184446	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56718524	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56777837	1.00[ASN][1000 genomes]
rs57192957	1.00[ASN][1000 genomes]
rs57286048	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57730885	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58033567	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58035683	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58582296	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58967293	1.00[ASN][1000 genomes]
rs59176504	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59881252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974816	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60325013	1.00[ASN][1000 genomes]
rs60536402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60563535	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60580301	1.00[ASN][1000 genomes]
rs60806585	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60872571	1.00[ASN][1000 genomes]
rs61037557	1.00[ASN][1000 genomes]
rs61448485	1.00[ASN][1000 genomes]
rs632670	0.96[YRI][hapmap]
rs634929	0.89[YRI][hapmap]
rs6546751	1.00[ASN][1000 genomes]
rs6546754	1.00[ASN][1000 genomes]
rs6546761	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546763	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546770	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546771	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66489235	1.00[ASN][1000 genomes]
rs66539158	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66560019	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827358	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66888584	1.00[ASN][1000 genomes]
rs66920016	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707920	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs67085067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709233	1.00[ASN][1000 genomes]
rs6709493	1.00[ASN][1000 genomes]
rs6711442	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712989	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713712	1.00[ASN][1000 genomes]
rs67166018	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717250	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717899	1.00[ASN][1000 genomes]
rs6718052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723136	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723380	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724795	1.00[ASN][1000 genomes]
rs6727580	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729906	0.82[AMR][1000 genomes]
rs6731631	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731988	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733532	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733538	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735400	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738521	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740982	1.00[ASN][1000 genomes]
rs6743881	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746583	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746586	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67491855	1.00[ASN][1000 genomes]
rs6749495	1.00[ASN][1000 genomes]
rs67535553	1.00[ASN][1000 genomes]
rs6755440	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758324	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6758689	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678684	0.89[YRI][hapmap]
rs67970313	1.00[ASN][1000 genomes]
rs68172337	1.00[ASN][1000 genomes]
rs688433	0.96[YRI][hapmap]
rs719119	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719120	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	1.00[ASN][1000 genomes]
rs72841783	1.00[ASN][1000 genomes]
rs72841795	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845175	1.00[ASN][1000 genomes]
rs7420583	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424190	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557942	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs7558666	1.00[ASN][1000 genomes]
rs7559116	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561471	1.00[ASN][1000 genomes]
rs7565358	1.00[ASN][1000 genomes]
rs7569059	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571483	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571517	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs7575050	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577244	1.00[ASN][1000 genomes]
rs7577354	1.00[ASN][1000 genomes]
rs7577860	1.00[ASN][1000 genomes]
rs7583268	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592404	1.00[ASN][1000 genomes]
rs7596126	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599755	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604296	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607353	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7608054	1.00[CEU][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764766	1.00[ASN][1000 genomes]
rs9309465	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677947	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677959	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9678682	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72638800-72655400	Weak transcription	Left Ventricle	heart
2	chr2:72647400-72688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:72648600-72657200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:72650400-72659600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:72652800-72655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:72653200-72675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:72654200-72655600	Strong transcription	Fetal Stomach	stomach
8	chr2:72654400-72657200	Weak transcription	Pancreas	Pancrea
9	chr2:72654600-72655800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:72654600-72655800	Enhancers	Spleen	Spleen
11	chr2:72654600-72671200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:72654800-72656000	Enhancers	Adipose Nuclei	Adipose
13	chr2:72654800-72666000	Weak transcription	Gastric	stomach
14	chr2:72654800-72671400	Weak transcription	Aorta	Aorta
15	chr2:72655000-72655400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:72655000-72655400	Weak transcription	Esophagus	oesophagus
17	chr2:72655000-72655400	Genic enhancers	Right Ventricle	heart
18	chr2:72655000-72656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:72655000-72690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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