Variant report

Variant	rs12996319
Chromosome Location	chr2:72833459-72833460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10183056	1.00[CHB][hapmap]
rs10206555	1.00[CHB][hapmap]
rs1032982	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs11676555	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11677707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11679683	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11684985	1.00[CHB][hapmap]
rs11685114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11686713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs11893504	0.84[EUR][1000 genomes]
rs12052508	1.00[CHB][hapmap]
rs12468173	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12468179	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12471136	1.00[CHB][hapmap]
rs12471312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs12476130	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs12617074	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12618390	1.00[CHB][hapmap]
rs12713772	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12713774	1.00[CHB][hapmap]
rs12992973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs12996406	1.00[CHB][hapmap]
rs12998681	1.00[CHB][hapmap]
rs13006497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13011477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs1400581	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1446887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1446895	1.00[CHB][hapmap]
rs1446896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1508061	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1517181	1.00[CHB][hapmap]
rs1517185	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1596930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1596931	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1711838	1.00[CHB][hapmap]
rs17503444	1.00[CHB][hapmap]
rs1911690	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs1947118	0.89[EUR][1000 genomes]
rs1995734	1.00[CHB][hapmap]
rs2048171	1.00[CHB][hapmap]
rs2063170	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2138683	1.00[CHB][hapmap]
rs2203679	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2901146	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3115351	1.00[CHB][hapmap]
rs4364045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs4852291	1.00[CHB][hapmap]
rs4852292	1.00[CHB][hapmap]
rs4852293	1.00[CHB][hapmap]
rs4852294	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4852298	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs4852874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852879	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4852880	1.00[CHB][hapmap]
rs4852883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4852886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4852888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852889	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852890	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852891	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs583673	1.00[CHB][hapmap]
rs585653	1.00[CHB][hapmap]
rs585938	1.00[CHB][hapmap]
rs587744	1.00[CHB][hapmap]
rs589547	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs590345	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs632670	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634929	1.00[CHB][hapmap]
rs640610	1.00[CHB][hapmap]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs647269	1.00[CHB][hapmap]
rs650352	1.00[CHB][hapmap]
rs653220	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs6546779	1.00[CHB][hapmap]
rs6546781	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546782	1.00[CHB][hapmap]
rs6546783	1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CHB][hapmap]
rs663218	1.00[CHB][hapmap]
rs666361	1.00[CHB][hapmap]
rs6708156	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6714595	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs671721	1.00[CHB][hapmap]
rs6724529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs674863	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs6758593	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs681574	1.00[CHB][hapmap]
rs683328	1.00[CHB][hapmap]
rs684673	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CHB][hapmap]
rs7420667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs7560529	1.00[CHB][hapmap]
rs7565198	1.00[CHB][hapmap]
rs7571064	1.00[CHB][hapmap]
rs7577238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs7580268	1.00[CHB][hapmap]
rs7588400	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7598238	1.00[CHB][hapmap]
rs7600273	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs983928	1.00[CHB][hapmap]
rs990569	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72809200-72833800	Weak transcription	Left Ventricle	heart
2	chr2:72830800-72837000	Weak transcription	Fetal Heart	heart
3	chr2:72831000-72839800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:72831000-72841400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:72831000-72841400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:72831400-72840000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:72831800-72841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72832000-72837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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