Variant report

Variant	rs12742552
Chromosome Location	chr1:103537179-103537180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:191)

rs_ID	r²[population]
rs10493991	0.89[ASN][1000 genomes]
rs10735777	0.95[ASN][1000 genomes]
rs10782918	0.89[ASN][1000 genomes]
rs10782921	0.95[ASN][1000 genomes]
rs10874672	0.84[ASN][1000 genomes]
rs11164658	0.89[ASN][1000 genomes]
rs12116792	0.89[AFR][1000 genomes]
rs12119661	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12121641	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123031	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125729	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12126622	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127590	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12131769	0.89[AFR][1000 genomes]
rs12136338	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12142411	0.87[AFR][1000 genomes]
rs12722908	0.89[ASN][1000 genomes]
rs12723167	0.84[ASN][1000 genomes]
rs12723432	0.95[ASN][1000 genomes]
rs12723922	0.89[ASN][1000 genomes]
rs12725698	0.89[ASN][1000 genomes]
rs12726009	0.89[ASN][1000 genomes]
rs12726958	0.89[ASN][1000 genomes]
rs12727675	0.87[ASN][1000 genomes]
rs12727959	0.87[ASN][1000 genomes]
rs12728656	0.89[ASN][1000 genomes]
rs12728737	0.84[ASN][1000 genomes]
rs12728819	0.89[ASN][1000 genomes]
rs12729449	0.89[ASN][1000 genomes]
rs12729588	0.89[ASN][1000 genomes]
rs12729602	0.89[ASN][1000 genomes]
rs12729803	0.89[ASN][1000 genomes]
rs12729964	0.89[ASN][1000 genomes]
rs12730712	0.89[ASN][1000 genomes]
rs12731591	0.89[ASN][1000 genomes]
rs12731843	0.89[ASN][1000 genomes]
rs12733029	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12733087	0.95[ASN][1000 genomes]
rs12733164	0.95[ASN][1000 genomes]
rs12733249	0.95[ASN][1000 genomes]
rs12733933	0.84[ASN][1000 genomes]
rs12734491	0.95[ASN][1000 genomes]
rs12735139	0.89[ASN][1000 genomes]
rs12737364	0.95[ASN][1000 genomes]
rs12738118	1.00[ASN][1000 genomes]
rs12738133	0.89[ASN][1000 genomes]
rs12740092	0.95[ASN][1000 genomes]
rs12741474	0.87[ASN][1000 genomes]
rs12742130	0.84[ASN][1000 genomes]
rs12742332	1.00[ASN][1000 genomes]
rs12742440	0.84[ASN][1000 genomes]
rs12742761	1.00[ASN][1000 genomes]
rs12743150	0.84[ASN][1000 genomes]
rs12744290	0.89[ASN][1000 genomes]
rs12744488	0.89[ASN][1000 genomes]
rs12748084	0.87[ASN][1000 genomes]
rs12748384	0.89[ASN][1000 genomes]
rs12748883	0.89[ASN][1000 genomes]
rs12749162	0.89[ASN][1000 genomes]
rs12749361	0.84[ASN][1000 genomes]
rs12749367	0.84[ASN][1000 genomes]
rs12749646	0.89[ASN][1000 genomes]
rs12750147	0.89[ASN][1000 genomes]
rs12750176	0.89[ASN][1000 genomes]
rs12750303	0.89[ASN][1000 genomes]
rs12750377	0.89[ASN][1000 genomes]
rs12750407	0.89[ASN][1000 genomes]
rs12753436	0.95[ASN][1000 genomes]
rs12753580	0.84[ASN][1000 genomes]
rs12753781	0.84[ASN][1000 genomes]
rs12754215	0.89[ASN][1000 genomes]
rs12754301	0.95[ASN][1000 genomes]
rs12754606	0.89[ASN][1000 genomes]
rs12757655	0.92[ASN][1000 genomes]
rs12757965	0.85[ASN][1000 genomes]
rs1337174	0.89[ASN][1000 genomes]
rs1337175	0.84[ASN][1000 genomes]
rs1337176	0.89[ASN][1000 genomes]
rs1337177	0.89[ASN][1000 genomes]
rs1337178	0.89[ASN][1000 genomes]
rs1337184	0.89[AFR][1000 genomes]
rs1337185	0.89[AFR][1000 genomes]
rs13374456	0.95[ASN][1000 genomes]
rs1538041	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1591636	0.95[ASN][1000 genomes]
rs17507967	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1953674	0.86[AFR][1000 genomes]
rs2050601	0.89[ASN][1000 genomes]
rs2252146	0.84[ASN][1000 genomes]
rs2376284	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622840	0.84[ASN][1000 genomes]
rs2622870	0.84[ASN][1000 genomes]
rs2622874	0.84[ASN][1000 genomes]
rs2622876	0.84[ASN][1000 genomes]
rs2622877	0.84[ASN][1000 genomes]
rs2622880	0.84[ASN][1000 genomes]
rs2786120	0.84[ASN][1000 genomes]
rs2786121	0.84[ASN][1000 genomes]
rs2786122	0.84[ASN][1000 genomes]
rs2786125	0.84[ASN][1000 genomes]
rs2929163	0.84[ASN][1000 genomes]
rs34038518	0.87[ASN][1000 genomes]
rs34110240	0.89[ASN][1000 genomes]
rs34137810	0.95[ASN][1000 genomes]
rs34138324	0.89[ASN][1000 genomes]
rs34157185	0.89[ASN][1000 genomes]
rs34206172	0.95[ASN][1000 genomes]
rs34229612	0.89[ASN][1000 genomes]
rs34243101	0.89[ASN][1000 genomes]
rs34305103	0.89[ASN][1000 genomes]
rs34347324	0.89[ASN][1000 genomes]
rs34408616	0.89[ASN][1000 genomes]
rs34456893	0.87[ASN][1000 genomes]
rs34587338	0.89[ASN][1000 genomes]
rs34637912	0.95[ASN][1000 genomes]
rs34727523	0.95[ASN][1000 genomes]
rs34762213	0.89[ASN][1000 genomes]
rs34765476	0.89[ASN][1000 genomes]
rs34822172	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34883734	0.95[ASN][1000 genomes]
rs34965749	0.95[ASN][1000 genomes]
rs35037054	0.89[ASN][1000 genomes]
rs35071880	0.89[ASN][1000 genomes]
rs35138059	0.89[ASN][1000 genomes]
rs35150936	0.84[ASN][1000 genomes]
rs35192078	0.89[ASN][1000 genomes]
rs35196641	0.87[ASN][1000 genomes]
rs35269818	0.89[ASN][1000 genomes]
rs35278135	0.89[ASN][1000 genomes]
rs35351574	0.89[ASN][1000 genomes]
rs35384282	0.87[ASN][1000 genomes]
rs35512814	0.87[ASN][1000 genomes]
rs35514519	0.89[ASN][1000 genomes]
rs35573953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35595325	0.89[ASN][1000 genomes]
rs35648695	0.89[ASN][1000 genomes]
rs35659176	0.89[ASN][1000 genomes]
rs35671668	0.89[ASN][1000 genomes]
rs35707694	0.89[ASN][1000 genomes]
rs35727167	0.95[ASN][1000 genomes]
rs35834443	0.87[ASN][1000 genomes]
rs35872185	0.89[ASN][1000 genomes]
rs35884314	0.89[ASN][1000 genomes]
rs35908252	0.89[ASN][1000 genomes]
rs35979991	0.89[ASN][1000 genomes]
rs36000197	0.89[ASN][1000 genomes]
rs36005955	0.89[ASN][1000 genomes]
rs36011373	0.89[ASN][1000 genomes]
rs3767272	0.87[ASN][1000 genomes]
rs3850459	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3934352	0.85[ASN][1000 genomes]
rs4478834	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4908283	0.87[ASN][1000 genomes]
rs61816501	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61816502	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61816503	0.89[ASN][1000 genomes]
rs61817085	0.89[AFR][1000 genomes]
rs61817086	0.87[AFR][1000 genomes]
rs6577347	0.87[AFR][1000 genomes]
rs6577349	0.89[AFR][1000 genomes]
rs6689957	0.89[ASN][1000 genomes]
rs6695665	0.95[ASN][1000 genomes]
rs71512568	0.89[ASN][1000 genomes]
rs71592265	0.87[ASN][1000 genomes]
rs71655803	0.95[ASN][1000 genomes]
rs71655804	0.95[ASN][1000 genomes]
rs71655805	0.95[ASN][1000 genomes]
rs71655806	0.95[ASN][1000 genomes]
rs71655807	0.89[ASN][1000 genomes]
rs71655808	0.89[ASN][1000 genomes]
rs71664952	0.84[ASN][1000 genomes]
rs71664954	0.84[ASN][1000 genomes]
rs71664955	0.84[ASN][1000 genomes]
rs71664959	0.89[ASN][1000 genomes]
rs71664961	0.89[ASN][1000 genomes]
rs71664962	0.89[ASN][1000 genomes]
rs71664963	0.89[ASN][1000 genomes]
rs71664964	0.89[ASN][1000 genomes]
rs71664965	0.89[ASN][1000 genomes]
rs71664966	0.89[ASN][1000 genomes]
rs71664967	0.89[ASN][1000 genomes]
rs71664968	0.89[ASN][1000 genomes]
rs71664969	0.89[ASN][1000 genomes]
rs71664974	0.92[ASN][1000 genomes]
rs71664976	0.95[ASN][1000 genomes]
rs71664978	0.95[ASN][1000 genomes]
rs71664979	0.95[ASN][1000 genomes]
rs71664980	0.95[ASN][1000 genomes]
rs71666999	0.95[ASN][1000 genomes]
rs7522293	0.87[ASN][1000 genomes]
rs951414	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv870600	chr1:103336601-103548497	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871475	chr1:103339272-103548497	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv871078	chr1:103352451-103548497	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv870995	chr1:103384610-103548497	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv871372	chr1:103403752-103564540	Strong transcription Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv871736	chr1:103409100-103548497	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv462783	chr1:103438795-103548497	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv546937	chr1:103438795-103548497	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462794	chr1:103450196-103539007	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv546938	chr1:103450196-103539007	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv871365	chr1:103476179-103548497	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:103517400-103557200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:103517600-103550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103519600-103543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103522400-103559000	Weak transcription	HSMM	muscle
6	chr1:103523800-103538600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:103525000-103540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:103525200-103539800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:103531200-103544200	Weak transcription	NH-A	brain
10	chr1:103536000-103537400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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