Variant report

Variant	rs6547121
Chromosome Location	chr2:77333401-77333402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10174161	0.83[EUR][1000 genomes]
rs10181919	0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs10198799	0.91[CEU][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap]
rs11126586	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11126588	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11126589	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11889639	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11903423	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs12614582	0.82[EUR][1000 genomes]
rs13412552	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap]
rs13421983	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs13422002	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs1374391	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1374395	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1823131	0.86[ASN][1000 genomes]
rs1921733	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2860082	0.82[EUR][1000 genomes]
rs2860940	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs2860941	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs28739330	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34356658	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4455181	0.91[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55855347	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56050325	0.80[AMR][1000 genomes]
rs56120121	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56125553	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56242614	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56356710	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56357290	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58449464	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59731212	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62168766	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6708260	0.94[AFR][1000 genomes]
rs6721925	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725731	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs6730095	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap]
rs6746253	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6750737	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6750865	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap]
rs715280	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs7570003	0.91[CEU][hapmap];0.90[GIH][hapmap]
rs7583894	0.90[CEU][hapmap]
rs7586460	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599837	0.86[CEU][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap]
rs957839	0.86[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][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	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	nsv1014895	chr2:77263452-77414507	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv458285	chr2:77276201-77345491	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
4	nsv582252	chr2:77276201-77345491	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv874332	chr2:77288585-77387208	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv524535	chr2:77310597-77344652	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
7	esv3422511	chr2:77313346-77335432	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	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
9	esv3328997	chr2:77316346-77335432	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv458296	chr2:77326832-77374780	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv582253	chr2:77326832-77374780	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv874334	chr2:77326832-77387208	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
13	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77323000-77341200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:77325600-77340400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77327600-77341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:77329600-77340600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:77329800-77339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:77330400-77341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:77332000-77342200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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