Variant report

Variant	rs4852294
Chromosome Location	chr2:72858384-72858385
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	chr2:72856670..72859423-chr2:72860463..72863012,2	K562	blood:
2	chr2:72844116..72846713-chr2:72857224..72859116,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10183056	1.00[ASN][1000 genomes]
rs10206555	1.00[ASN][1000 genomes]
rs10211019	1.00[ASN][1000 genomes]
rs1032982	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10460572	1.00[ASN][1000 genomes]
rs10496186	1.00[ASN][1000 genomes]
rs10865391	1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs11126370	1.00[ASN][1000 genomes]
rs11126371	1.00[ASN][1000 genomes]
rs11126372	1.00[ASN][1000 genomes]
rs11126373	1.00[ASN][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11126376	0.90[EUR][1000 genomes]
rs11126385	1.00[ASN][1000 genomes]
rs11676555	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11677707	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11679683	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11684985	1.00[ASN][1000 genomes]
rs11685114	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11686713	0.90[EUR][1000 genomes]
rs11893504	0.83[EUR][1000 genomes]
rs11894160	1.00[ASN][1000 genomes]
rs12468173	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12468179	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12471312	0.88[EUR][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12617074	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12618390	1.00[ASN][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	1.00[ASN][1000 genomes]
rs12713774	1.00[ASN][1000 genomes]
rs12989141	1.00[ASN][1000 genomes]
rs12992973	0.90[EUR][1000 genomes]
rs12996319	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12996406	1.00[ASN][1000 genomes]
rs12998681	1.00[ASN][1000 genomes]
rs13006497	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13011477	0.88[EUR][1000 genomes]
rs13016873	1.00[ASN][1000 genomes]
rs13424607	1.00[ASN][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1400582	1.00[ASN][1000 genomes]
rs1446887	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[ASN][1000 genomes]
rs1446893	1.00[ASN][1000 genomes]
rs1446895	1.00[ASN][1000 genomes]
rs1446896	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1508061	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1596930	0.90[EUR][1000 genomes]
rs1596931	0.90[EUR][1000 genomes]
rs1711838	1.00[ASN][1000 genomes]
rs1911690	0.81[EUR][1000 genomes]
rs1947118	0.88[EUR][1000 genomes]
rs1992799	1.00[ASN][1000 genomes]
rs1995734	1.00[ASN][1000 genomes]
rs2048171	1.00[ASN][1000 genomes]
rs2063170	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2138683	1.00[ASN][1000 genomes]
rs2420565	1.00[ASN][1000 genomes]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4364045	0.88[EUR][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852293	1.00[ASN][1000 genomes]
rs4852298	1.00[ASN][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852873	0.89[EUR][1000 genomes]
rs4852874	0.87[EUR][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852879	0.90[EUR][1000 genomes]
rs4852880	1.00[ASN][1000 genomes]
rs4852883	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4852886	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4852888	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852889	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852890	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852891	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4852893	1.00[ASN][1000 genomes]
rs581976	1.00[ASN][1000 genomes]
rs583673	1.00[ASN][1000 genomes]
rs585653	1.00[ASN][1000 genomes]
rs585938	1.00[ASN][1000 genomes]
rs597799	1.00[ASN][1000 genomes]
rs614653	1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634574	1.00[ASN][1000 genomes]
rs634929	1.00[ASN][1000 genomes]
rs636332	1.00[ASN][1000 genomes]
rs636734	1.00[ASN][1000 genomes]
rs641123	1.00[ASN][1000 genomes]
rs642847	1.00[ASN][1000 genomes]
rs645489	1.00[ASN][1000 genomes]
rs646357	1.00[ASN][1000 genomes]
rs647269	1.00[ASN][1000 genomes]
rs650352	1.00[ASN][1000 genomes]
rs654157	1.00[ASN][1000 genomes]
rs6546776	1.00[ASN][1000 genomes]
rs6546777	1.00[ASN][1000 genomes]
rs6546778	1.00[ASN][1000 genomes]
rs6546779	1.00[ASN][1000 genomes]
rs6546781	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546782	1.00[ASN][1000 genomes]
rs6546783	1.00[ASN][1000 genomes]
rs656370	1.00[ASN][1000 genomes]
rs656440	1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6708156	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs671721	1.00[ASN][1000 genomes]
rs6724529	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6736305	1.00[ASN][1000 genomes]
rs6739002	1.00[ASN][1000 genomes]
rs6741956	1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs674863	1.00[ASN][1000 genomes]
rs6750766	1.00[ASN][1000 genomes]
rs678684	1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs681574	1.00[ASN][1000 genomes]
rs681908	1.00[ASN][1000 genomes]
rs683328	1.00[ASN][1000 genomes]
rs684673	1.00[ASN][1000 genomes]
rs687325	1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs7420391	1.00[ASN][1000 genomes]
rs7420667	0.88[EUR][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	1.00[ASN][1000 genomes]
rs7577238	0.82[EUR][1000 genomes]
rs7580268	1.00[ASN][1000 genomes]
rs7588400	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7588602	1.00[ASN][1000 genomes]
rs7591025	1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7592155	1.00[ASN][1000 genomes]
rs7598238	1.00[ASN][1000 genomes]
rs7600273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[ASN][1000 genomes]
rs7603797	1.00[ASN][1000 genomes]
rs983928	1.00[ASN][1000 genomes]
rs990569	1.00[ASN][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	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
2	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72840200-72878600	Weak transcription	Aorta	Aorta
2	chr2:72843800-72866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:72845000-72862400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:72847400-72865600	Weak transcription	Right Atrium	heart
5	chr2:72847400-72865800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:72847400-72869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:72854200-72868400	Weak transcription	Fetal Stomach	stomach
8	chr2:72855600-72858400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:72855800-72858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:72856000-72865600	Weak transcription	Left Ventricle	heart
11	chr2:72857200-72865800	Weak transcription	Fetal Heart	heart
12	chr2:72857400-72860400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:72857400-72865800	Weak transcription	Ovary	ovary
14	chr2:72858000-72858400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:72858200-72858400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:72858200-72861200	Weak transcription	NHDF-Ad	bronchial

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