Variant report

Variant	rs12542977
Chromosome Location	chr8:51752029-51752030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10087228	0.81[CEU][hapmap]
rs10099033	0.81[CEU][hapmap]
rs1018207	0.81[CEU][hapmap]
rs10216649	0.81[CEU][hapmap]
rs10958040	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs10958055	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs10958060	0.81[CEU][hapmap]
rs10958113	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10958117	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10958177	0.93[EUR][1000 genomes]
rs10958178	0.93[EUR][1000 genomes]
rs11774637	0.81[CEU][hapmap]
rs11776122	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11779072	0.81[CEU][hapmap]
rs11783089	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11786554	0.89[EUR][1000 genomes]
rs11988563	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11988981	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11989031	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989688	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992235	0.91[EUR][1000 genomes]
rs11994633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997213	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998393	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12216793	0.93[EUR][1000 genomes]
rs12375352	0.89[JPT][hapmap]
rs12546823	0.89[JPT][hapmap]
rs12548479	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs12675337	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249513	0.93[EUR][1000 genomes]
rs13251151	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13252863	0.89[JPT][hapmap]
rs13258440	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs13264074	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs13265913	0.90[EUR][1000 genomes]
rs13267665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268743	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13268920	0.87[EUR][1000 genomes]
rs13271648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396377	0.81[CEU][hapmap]
rs1484132	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1508624	0.81[CEU][hapmap]
rs16915506	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1843079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911836	0.80[JPT][hapmap]
rs2048208	0.89[JPT][hapmap]
rs2069312	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2392741	0.81[CEU][hapmap]
rs34433731	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34473019	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs35108997	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35670134	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35689787	0.88[EUR][1000 genomes]
rs35871453	0.91[EUR][1000 genomes]
rs35878664	0.91[EUR][1000 genomes]
rs4633069	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873155	0.81[CEU][hapmap]
rs4873161	0.92[EUR][1000 genomes]
rs4873480	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55818362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826462	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6473319	0.81[CEU][hapmap]
rs6980934	0.91[EUR][1000 genomes]
rs6992341	0.81[CEU][hapmap]
rs6992551	0.88[CEU][hapmap]
rs7009895	0.84[CEU][hapmap]
rs7016914	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs7018197	0.81[CEU][hapmap]
rs713179	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs7812888	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7826333	0.92[EUR][1000 genomes]
rs7831359	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs7831651	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7832799	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7834585	0.81[CEU][hapmap]
rs906656	0.83[JPT][hapmap]
rs9650276	0.94[ASN][1000 genomes]
rs985813	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019760	chr8:51628619-51862150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1029698	chr8:51628619-51863635	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv890874	chr8:51681031-51772697	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890875	chr8:51681031-51780761	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890876	chr8:51725654-51780761	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv521625	chr8:51733342-51760410	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv890877	chr8:51733342-51946827	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv890878	chr8:51737153-51796456	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890879	chr8:51737153-51862244	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv890880	chr8:51737153-51883927	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv890881	chr8:51737153-51946827	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv890882	chr8:51737153-51946827	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv34807	chr8:51737987-51883447	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2756704	chr8:51744861-51779451	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv890883	chr8:51744861-51796456	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv2756812	chr8:51750040-51883407	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv2759614	chr8:51750040-51883407	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv890884	chr8:51750403-51854351	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1015808	chr8:51750738-51859216	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	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	chr8:51750800-51752200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:51750800-51752200	Enhancers	Dnd41	blood
3	chr8:51750800-51752400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:51751000-51752200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:51751800-51753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:51752000-51753000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:51752000-51753000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:51752000-51753000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:51752000-51753600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:51752000-51754400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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