Variant report

Variant	rs8179517
Chromosome Location	chr2:40219139-40219140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1013954	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191782	0.81[ASN][1000 genomes]
rs1023583	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10490338	0.81[ASN][1000 genomes]
rs10779927	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779928	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865162	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124713	0.87[ASN][1000 genomes]
rs11124723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124724	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124726	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11124727	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683512	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11685420	0.87[ASN][1000 genomes]
rs11889689	0.81[ASN][1000 genomes]
rs12463415	0.89[ASN][1000 genomes]
rs12474732	0.91[ASN][1000 genomes]
rs12622032	0.89[ASN][1000 genomes]
rs12712679	0.84[ASN][1000 genomes]
rs12988439	0.87[ASN][1000 genomes]
rs13015010	0.89[ASN][1000 genomes]
rs13015269	0.89[ASN][1000 genomes]
rs13390026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430953	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1541565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1541566	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1541567	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548876	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17024711	0.88[ASN][1000 genomes]
rs17024746	1.00[ASN][1000 genomes]
rs17024767	0.88[ASN][1000 genomes]
rs17024775	0.87[ASN][1000 genomes]
rs17024784	0.85[ASN][1000 genomes]
rs17024801	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17024804	0.96[ASN][1000 genomes]
rs17024807	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17024825	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17024827	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17024830	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17024833	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17024837	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17024839	0.84[ASN][1000 genomes]
rs17024849	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17024875	0.84[ASN][1000 genomes]
rs1861250	0.90[ASN][1000 genomes]
rs1861251	0.90[ASN][1000 genomes]
rs2058639	0.80[ASN][1000 genomes]
rs2160210	0.84[ASN][1000 genomes]
rs2215967	0.93[ASN][1000 genomes]
rs2215974	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2373710	0.89[ASN][1000 genomes]
rs2373780	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2373781	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373784	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373787	0.84[CHB][hapmap]
rs28491259	0.85[ASN][1000 genomes]
rs28649544	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34854449	0.84[ASN][1000 genomes]
rs36149895	0.80[ASN][1000 genomes]
rs4321345	0.90[ASN][1000 genomes]
rs4335994	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4420745	0.85[ASN][1000 genomes]
rs4507140	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4519500	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4538248	0.96[ASN][1000 genomes]
rs4580426	0.85[ASN][1000 genomes]
rs4952411	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56855371	0.80[ASN][1000 genomes]
rs56865237	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57416940	0.86[ASN][1000 genomes]
rs57677588	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57707701	0.84[ASN][1000 genomes]
rs58224754	0.95[ASN][1000 genomes]
rs59059664	0.80[EUR][1000 genomes]
rs59073176	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59110768	0.96[ASN][1000 genomes]
rs59469973	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59992409	0.83[ASN][1000 genomes]
rs61023112	0.89[ASN][1000 genomes]
rs61481161	0.92[ASN][1000 genomes]
rs61604673	1.00[ASN][1000 genomes]
rs62136383	0.87[ASN][1000 genomes]
rs62137255	0.81[ASN][1000 genomes]
rs62148688	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62148691	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62148694	0.83[ASN][1000 genomes]
rs62148695	0.86[ASN][1000 genomes]
rs62150227	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62150228	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62150232	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62150235	0.96[ASN][1000 genomes]
rs62151491	0.89[ASN][1000 genomes]
rs62151493	0.94[ASN][1000 genomes]
rs62151494	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62151495	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62151497	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544280	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544282	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544296	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6731048	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759636	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6760978	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72940717	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs741270	0.88[ASN][1000 genomes]
rs7557819	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558203	0.92[ASN][1000 genomes]
rs7564200	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7564447	0.87[ASN][1000 genomes]
rs7572755	0.88[ASN][1000 genomes]
rs7590992	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7591069	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7591263	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs759353	0.88[ASN][1000 genomes]
rs759356	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759358	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7599493	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7600580	0.93[ASN][1000 genomes]
rs7607156	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7607499	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768271	0.87[ASN][1000 genomes]
rs917970	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917971	0.96[ASN][1000 genomes]
rs917974	0.88[ASN][1000 genomes]
rs957117	0.89[ASN][1000 genomes]
rs9679662	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9749783	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs985455	0.91[ASN][1000 genomes]
rs9973551	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873893	chr2:40137942-40222206	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873897	chr2:40139250-40225253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869668	chr2:40141079-40249854	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1003920	chr2:40141776-40245464	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1000423	chr2:40143646-40245464	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv456396	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581498	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv581499	chr2:40154844-40241868	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv873898	chr2:40156882-40246716	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv962063	chr2:40205436-40263295	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv519483	chr2:40207338-40235588	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv873901	chr2:40207338-40264861	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv1004783	chr2:40216463-40245464	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv1003335	chr2:40216620-40245464	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40217000-40219200	Enhancers	Osteobl	bone
2	chr2:40217200-40219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:40217400-40219400	Enhancers	HSMM	muscle
4	chr2:40217800-40219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:40217800-40219200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:40217800-40219400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:40218000-40219400	Enhancers	NHDF-Ad	bronchial
8	chr2:40218200-40221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:40218200-40222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
11	chr2:40218600-40220000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:40219000-40220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:40219000-40223600	Weak transcription	HSMMtube	muscle
14	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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