Variant report

Variant	rs12468975
Chromosome Location	chr2:206219333-206219334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10199654	0.88[ASN][1000 genomes]
rs10490290	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490292	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490293	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490295	0.91[ASN][1000 genomes]
rs10804147	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10804148	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932102	0.89[ASN][1000 genomes]
rs10932104	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10932105	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932108	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932109	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1113314	0.88[ASN][1000 genomes]
rs11676344	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11676518	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676519	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676529	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11677457	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11686270	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11690439	0.87[ASN][1000 genomes]
rs11690480	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690561	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691342	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691345	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692923	0.89[ASN][1000 genomes]
rs11695465	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207434	0.85[ASN][1000 genomes]
rs1207435	0.86[ASN][1000 genomes]
rs1207436	0.86[ASN][1000 genomes]
rs1207437	0.86[ASN][1000 genomes]
rs1207438	0.86[ASN][1000 genomes]
rs12373584	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12373610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464688	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464755	0.89[ASN][1000 genomes]
rs12468755	0.96[ASN][1000 genomes]
rs12468794	0.96[ASN][1000 genomes]
rs12470003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12470079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12470434	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472655	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12472752	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476682	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12615597	0.89[ASN][1000 genomes]
rs12622101	0.89[ASN][1000 genomes]
rs12623757	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12989507	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13002238	0.81[ASN][1000 genomes]
rs13004164	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13004568	0.88[ASN][1000 genomes]
rs13009974	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13011880	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13011981	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13015412	0.85[ASN][1000 genomes]
rs13017922	0.92[ASN][1000 genomes]
rs13021602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13022810	0.88[ASN][1000 genomes]
rs13024741	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13024952	0.86[ASN][1000 genomes]
rs13025642	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13028215	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13033820	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1398053	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1398054	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1511873	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1511874	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1540365	0.89[ASN][1000 genomes]
rs1540366	0.89[ASN][1000 genomes]
rs1540367	0.88[ASN][1000 genomes]
rs1540368	0.88[ASN][1000 genomes]
rs1540369	0.82[ASN][1000 genomes]
rs1606238	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1606239	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17201041	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849226	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1861508	0.89[ASN][1000 genomes]
rs1861509	0.89[ASN][1000 genomes]
rs1861513	0.84[ASN][1000 genomes]
rs1861514	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877338	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1877339	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1912845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1921805	0.89[ASN][1000 genomes]
rs1990667	0.81[ASN][1000 genomes]
rs2041877	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080416	0.84[EUR][1000 genomes]
rs2080418	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080419	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2160455	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193077	0.84[ASN][1000 genomes]
rs2336416	0.89[ASN][1000 genomes]
rs2336417	0.82[ASN][1000 genomes]
rs2336420	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2541151	0.86[ASN][1000 genomes]
rs2541152	0.86[ASN][1000 genomes]
rs2541153	0.86[ASN][1000 genomes]
rs2541154	0.86[ASN][1000 genomes]
rs2541160	0.84[ASN][1000 genomes]
rs2668142	0.81[ASN][1000 genomes]
rs2668144	0.84[ASN][1000 genomes]
rs2668145	0.84[ASN][1000 genomes]
rs2668146	0.84[ASN][1000 genomes]
rs2668148	0.85[ASN][1000 genomes]
rs2704644	0.86[ASN][1000 genomes]
rs34226321	0.88[ASN][1000 genomes]
rs34332011	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34486316	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35337631	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35550118	0.85[ASN][1000 genomes]
rs3843339	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845806	0.96[ASN][1000 genomes]
rs3856509	0.89[ASN][1000 genomes]
rs3928642	0.96[ASN][1000 genomes]
rs4119079	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4119081	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4505506	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4595957	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673318	0.89[ASN][1000 genomes]
rs4673319	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673320	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673323	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4673324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4673326	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673327	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673328	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673329	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4673330	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4675508	0.87[ASN][1000 genomes]
rs4675511	0.89[ASN][1000 genomes]
rs4675512	0.84[ASN][1000 genomes]
rs4675513	0.89[ASN][1000 genomes]
rs4675515	0.96[ASN][1000 genomes]
rs4675519	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4675521	0.94[ASN][1000 genomes]
rs55850246	0.89[ASN][1000 genomes]
rs62171496	0.86[ASN][1000 genomes]
rs62171506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66583439	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6740963	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6755865	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6756234	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761373	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582340	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7594732	0.89[ASN][1000 genomes]
rs849189	0.86[ASN][1000 genomes]
rs849193	0.85[ASN][1000 genomes]
rs849194	0.86[ASN][1000 genomes]
rs849198	0.84[ASN][1000 genomes]
rs849200	0.84[ASN][1000 genomes]
rs849207	0.84[ASN][1000 genomes]
rs849208	0.82[ASN][1000 genomes]
rs849216	0.88[ASN][1000 genomes]
rs849218	0.86[ASN][1000 genomes]
rs849219	0.86[ASN][1000 genomes]
rs849220	0.85[ASN][1000 genomes]
rs849221	0.86[ASN][1000 genomes]
rs849222	0.86[ASN][1000 genomes]
rs849223	0.86[ASN][1000 genomes]
rs849224	0.81[ASN][1000 genomes]
rs849250	0.87[ASN][1000 genomes]
rs907462	0.85[ASN][1000 genomes]
rs964896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979187	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206213000-206222600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:206213000-206223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:206213200-206222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:206218000-206222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:206218000-206223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:206218000-206223000	Weak transcription	NH-A	brain
8	chr2:206218000-206223400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:206218200-206221800	Weak transcription	NHEK	skin
10	chr2:206218200-206222400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:206218200-206222600	Weak transcription	HMEC	breast
12	chr2:206218200-206222800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:206218200-206223000	Weak transcription	Osteobl	bone
14	chr2:206218200-206223200	Weak transcription	HSMM	muscle
15	chr2:206218200-206223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:206218200-206225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:206218600-206222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:206218600-206222600	Weak transcription	NHDF-Ad	bronchial

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