Variant report

Variant	rs71664978
Chromosome Location	chr1:103524691-103524692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs1012283	0.85[ASN][1000 genomes]
rs10493991	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10735777	1.00[ASN][1000 genomes]
rs10782918	0.95[ASN][1000 genomes]
rs10782921	1.00[ASN][1000 genomes]
rs10874672	0.90[ASN][1000 genomes]
rs11164658	0.95[ASN][1000 genomes]
rs11811018	0.85[ASN][1000 genomes]
rs12081652	0.82[ASN][1000 genomes]
rs12119459	0.85[ASN][1000 genomes]
rs12119661	0.92[ASN][1000 genomes]
rs12121641	1.00[ASN][1000 genomes]
rs12123031	0.95[ASN][1000 genomes]
rs12124588	0.85[ASN][1000 genomes]
rs12125729	0.95[ASN][1000 genomes]
rs12126622	0.95[ASN][1000 genomes]
rs12127590	0.95[ASN][1000 genomes]
rs12136338	0.95[ASN][1000 genomes]
rs12136748	0.85[ASN][1000 genomes]
rs12142524	0.85[ASN][1000 genomes]
rs12143676	0.85[ASN][1000 genomes]
rs12722908	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12723167	0.90[ASN][1000 genomes]
rs12723432	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723922	0.95[ASN][1000 genomes]
rs12724152	0.85[ASN][1000 genomes]
rs12725698	0.95[ASN][1000 genomes]
rs12726009	0.95[ASN][1000 genomes]
rs12726958	0.95[ASN][1000 genomes]
rs12727675	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12727959	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12728656	0.95[ASN][1000 genomes]
rs12728737	0.90[ASN][1000 genomes]
rs12728819	0.95[ASN][1000 genomes]
rs12729449	0.95[ASN][1000 genomes]
rs12729588	0.95[ASN][1000 genomes]
rs12729602	0.95[ASN][1000 genomes]
rs12729803	0.95[ASN][1000 genomes]
rs12729964	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12730712	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731591	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731843	0.95[ASN][1000 genomes]
rs12733029	1.00[ASN][1000 genomes]
rs12733087	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733164	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733249	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733933	0.90[ASN][1000 genomes]
rs12734491	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735139	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12737364	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738118	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12738133	0.95[ASN][1000 genomes]
rs12740092	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740462	0.85[ASN][1000 genomes]
rs12741474	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742130	0.90[ASN][1000 genomes]
rs12742332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12742440	0.90[ASN][1000 genomes]
rs12742552	0.95[ASN][1000 genomes]
rs12742761	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12743150	0.90[ASN][1000 genomes]
rs12743365	0.85[ASN][1000 genomes]
rs12744290	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12744488	0.95[ASN][1000 genomes]
rs12748084	0.92[ASN][1000 genomes]
rs12748384	0.95[ASN][1000 genomes]
rs12748883	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12749162	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12749361	0.89[ASN][1000 genomes]
rs12749367	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749646	0.95[ASN][1000 genomes]
rs12750147	0.95[ASN][1000 genomes]
rs12750176	0.95[ASN][1000 genomes]
rs12750179	0.85[ASN][1000 genomes]
rs12750303	0.95[ASN][1000 genomes]
rs12750377	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12750407	0.95[ASN][1000 genomes]
rs12753436	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753580	0.90[ASN][1000 genomes]
rs12753781	0.90[ASN][1000 genomes]
rs12754215	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12754301	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754606	0.95[ASN][1000 genomes]
rs12756627	0.82[ASN][1000 genomes]
rs12757655	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12757965	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1337174	0.95[ASN][1000 genomes]
rs1337175	0.89[ASN][1000 genomes]
rs1337176	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337177	0.95[ASN][1000 genomes]
rs1337178	0.95[ASN][1000 genomes]
rs13374456	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374856	0.87[AFR][1000 genomes]
rs13375103	0.87[AFR][1000 genomes]
rs13375833	0.87[AFR][1000 genomes]
rs1463034	0.85[ASN][1000 genomes]
rs1463035	0.85[ASN][1000 genomes]
rs1538041	1.00[ASN][1000 genomes]
rs1591636	1.00[ASN][1000 genomes]
rs17447925	0.85[ASN][1000 genomes]
rs17506286	0.85[ASN][1000 genomes]
rs17507967	0.95[ASN][1000 genomes]
rs1870958	0.85[ASN][1000 genomes]
rs2050601	0.95[ASN][1000 genomes]
rs2252146	0.90[ASN][1000 genomes]
rs2376284	1.00[ASN][1000 genomes]
rs2622840	0.90[ASN][1000 genomes]
rs2622870	0.90[ASN][1000 genomes]
rs2622874	0.90[ASN][1000 genomes]
rs2622876	0.90[ASN][1000 genomes]
rs2622877	0.90[ASN][1000 genomes]
rs2622880	0.90[ASN][1000 genomes]
rs2786120	0.90[ASN][1000 genomes]
rs2786121	0.90[ASN][1000 genomes]
rs2786122	0.90[ASN][1000 genomes]
rs2786125	0.90[ASN][1000 genomes]
rs2929163	0.90[ASN][1000 genomes]
rs34038518	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34090601	0.85[ASN][1000 genomes]
rs34110240	0.95[ASN][1000 genomes]
rs34137810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34138324	0.95[ASN][1000 genomes]
rs34157185	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34206172	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34229612	0.95[ASN][1000 genomes]
rs34243101	0.95[ASN][1000 genomes]
rs34277983	0.85[ASN][1000 genomes]
rs34305103	0.95[ASN][1000 genomes]
rs34347324	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34408616	0.95[ASN][1000 genomes]
rs34413966	0.85[ASN][1000 genomes]
rs34456893	0.92[ASN][1000 genomes]
rs34542642	0.85[ASN][1000 genomes]
rs34587338	0.95[ASN][1000 genomes]
rs34637912	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34727523	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762213	0.95[ASN][1000 genomes]
rs34765476	0.95[ASN][1000 genomes]
rs34822172	0.95[ASN][1000 genomes]
rs34882475	0.85[ASN][1000 genomes]
rs34883734	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34965749	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35037054	0.95[ASN][1000 genomes]
rs35071880	0.95[ASN][1000 genomes]
rs35138059	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35150936	0.90[ASN][1000 genomes]
rs35192078	0.95[ASN][1000 genomes]
rs35196641	0.92[ASN][1000 genomes]
rs35269818	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35278135	0.95[ASN][1000 genomes]
rs35351574	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35384282	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35498106	0.85[ASN][1000 genomes]
rs35512814	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35514519	0.95[ASN][1000 genomes]
rs35573953	1.00[ASN][1000 genomes]
rs35595325	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35613209	0.85[ASN][1000 genomes]
rs35648695	0.95[ASN][1000 genomes]
rs35659176	0.95[ASN][1000 genomes]
rs35671668	0.95[ASN][1000 genomes]
rs35707694	0.95[ASN][1000 genomes]
rs35727167	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35834443	0.92[ASN][1000 genomes]
rs35872185	0.95[ASN][1000 genomes]
rs35884314	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35908252	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35979991	0.95[ASN][1000 genomes]
rs36000197	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36005955	0.95[ASN][1000 genomes]
rs36011373	0.95[ASN][1000 genomes]
rs3767272	0.92[ASN][1000 genomes]
rs3850459	1.00[ASN][1000 genomes]
rs3934352	0.90[ASN][1000 genomes]
rs4353117	0.85[ASN][1000 genomes]
rs4478834	1.00[ASN][1000 genomes]
rs4908283	0.92[ASN][1000 genomes]
rs57183243	0.87[AFR][1000 genomes]
rs57548736	0.87[AFR][1000 genomes]
rs58882054	0.87[AFR][1000 genomes]
rs60534143	0.87[AFR][1000 genomes]
rs61816501	0.95[ASN][1000 genomes]
rs61816502	0.95[ASN][1000 genomes]
rs61816503	0.95[ASN][1000 genomes]
rs66473612	0.85[ASN][1000 genomes]
rs6689957	0.95[ASN][1000 genomes]
rs6695665	1.00[ASN][1000 genomes]
rs71512566	0.85[ASN][1000 genomes]
rs71512568	0.95[ASN][1000 genomes]
rs71592265	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71655803	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71655804	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71655805	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71655806	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71655807	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71655808	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71664950	0.85[ASN][1000 genomes]
rs71664951	0.85[ASN][1000 genomes]
rs71664952	0.90[ASN][1000 genomes]
rs71664953	0.83[ASN][1000 genomes]
rs71664954	0.90[ASN][1000 genomes]
rs71664955	0.90[ASN][1000 genomes]
rs71664959	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71664961	0.95[ASN][1000 genomes]
rs71664962	0.95[ASN][1000 genomes]
rs71664963	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71664964	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71664965	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71664966	0.95[ASN][1000 genomes]
rs71664967	0.95[ASN][1000 genomes]
rs71664968	0.95[ASN][1000 genomes]
rs71664969	0.95[ASN][1000 genomes]
rs71664974	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71664976	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71664979	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71664980	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71666999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522293	0.92[ASN][1000 genomes]
rs7542495	0.87[AFR][1000 genomes]
rs7542602	0.87[AFR][1000 genomes]
rs7552698	0.87[AFR][1000 genomes]
rs7552870	0.87[AFR][1000 genomes]
rs951414	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv870607	chr1:103362909-103528128	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv871657	chr1:103427381-103528128	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv871286	chr1:103455217-103528128	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	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
16	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:11 , 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	chr1:103521400-103525200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103522400-103559000	Weak transcription	HSMM	muscle
7	chr1:103523200-103525000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:103523800-103525000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:103523800-103538600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:103524000-103524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:103524000-103525000	Enhancers	Fetal Heart	heart

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