Variant report

Variant	rs6547142
Chromosome Location	chr2:77505165-77505166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10167787	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170183	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176578	1.00[CEU][hapmap]
rs10179301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap]
rs10179380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs10180141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184714	1.00[CEU][hapmap]
rs10188161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10191311	1.00[CEU][hapmap]
rs12105416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12468242	1.00[CEU][hapmap]
rs12471034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12475548	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs13394601	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394937	1.00[ASN][1000 genomes]
rs13396517	1.00[CEU][hapmap]
rs13404667	1.00[CEU][hapmap]
rs13411599	1.00[CEU][hapmap]
rs13416390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap]
rs13422634	1.00[CEU][hapmap]
rs13428797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs13430775	1.00[CEU][hapmap]
rs1545215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1837425	1.00[CEU][hapmap]
rs290044	0.80[ASN][1000 genomes]
rs290047	0.85[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs290048	0.90[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs290050	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3910598	1.00[CEU][hapmap]
rs417691	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs446139	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6547138	1.00[CEU][hapmap]
rs6547141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721503	1.00[CEU][hapmap]
rs6722240	1.00[CEU][hapmap]
rs6729161	1.00[CEU][hapmap]
rs6734653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6736374	1.00[CEU][hapmap]
rs6746727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7557290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7558042	1.00[CEU][hapmap]
rs7562813	1.00[CEU][hapmap]
rs7568805	1.00[CEU][hapmap]
rs7587908	1.00[CEU][hapmap]
rs9973349	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874333	chr2:77315349-77798886	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv518504	chr2:77326832-78172786	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1004938	chr2:77347740-78186543	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv535783	chr2:77347740-78186543	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv529904	chr2:77347741-78186542	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv997329	chr2:77354560-78176285	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv2762680	chr2:77452866-77507404	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77504000-77505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77504600-77505400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77504800-77505400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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