Variant report

Variant	rs6547106
Chromosome Location	chr2:77209245-77209246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10189940	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs11126575	0.88[JPT][hapmap]
rs12713886	0.93[EUR][1000 genomes]
rs12713890	0.89[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs12713891	0.88[EUR][1000 genomes]
rs13021476	0.85[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13033902	0.80[CEU][hapmap];0.93[TSI][hapmap]
rs13034088	0.80[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs13388552	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs13397044	0.83[GIH][hapmap]
rs13406560	0.85[EUR][1000 genomes]
rs1348828	0.84[EUR][1000 genomes]
rs1348829	0.84[EUR][1000 genomes]
rs1374392	0.88[ASW][hapmap];0.85[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1374394	0.80[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap]
rs1446689	0.91[GIH][hapmap]
rs1446694	0.82[EUR][1000 genomes]
rs1446706	0.85[EUR][1000 genomes]
rs1446713	0.89[EUR][1000 genomes]
rs1446714	0.89[EUR][1000 genomes]
rs1446717	0.85[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1446718	0.88[ASW][hapmap];0.85[CEU][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1446720	0.84[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1542187	0.86[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap]
rs17013338	0.89[CHB][hapmap]
rs17013615	0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs17040496	0.85[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17040500	0.83[GIH][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs17089	0.86[GIH][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs1838879	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044485	0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs34577944	0.84[EUR][1000 genomes]
rs35458070	0.84[EUR][1000 genomes]
rs4510248	0.86[GIH][hapmap]
rs4853290	0.83[EUR][1000 genomes]
rs58936967	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547107	0.85[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6547108	0.85[CEU][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6547109	0.85[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547111	0.85[CEU][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547113	0.87[EUR][1000 genomes]
rs6547119	0.86[GIH][hapmap]
rs6706194	0.87[EUR][1000 genomes]
rs6724799	0.86[EUR][1000 genomes]
rs6737296	0.88[ASW][hapmap];0.85[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6741095	0.84[EUR][1000 genomes]
rs6750979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758707	0.83[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72823154	0.95[EUR][1000 genomes]
rs7556871	0.89[EUR][1000 genomes]
rs7561189	0.82[ASW][hapmap];0.85[CEU][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs7569919	0.91[EUR][1000 genomes]
rs7569994	0.90[EUR][1000 genomes]
rs7595678	0.86[GIH][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874322	chr2:77031247-77209750	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874327	chr2:77085752-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv874329	chr2:77096124-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv874330	chr2:77103719-77209750	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77206200-77211200	Weak transcription	HUVEC	blood vessel
2	chr2:77206600-77211600	Weak transcription	Fetal Lung	lung
3	chr2:77206800-77211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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