Variant report

Variant	rs1446714
Chromosome Location	chr2:77205297-77205298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12713886	0.92[EUR][1000 genomes]
rs12713890	0.83[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes]
rs12713891	0.88[EUR][1000 genomes]
rs13021476	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[EUR][1000 genomes]
rs13033902	0.89[CEU][hapmap]
rs13034088	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs13388552	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs13406560	0.85[EUR][1000 genomes]
rs13422716	0.93[YRI][hapmap]
rs1348828	0.83[EUR][1000 genomes]
rs1348829	0.83[EUR][1000 genomes]
rs1374392	0.95[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs1374394	0.89[CEU][hapmap]
rs1446694	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1446706	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1446710	0.93[YRI][hapmap]
rs1446713	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446717	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1446718	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1446720	0.95[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1470503	0.87[YRI][hapmap]
rs1542187	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs17013615	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs17040496	0.95[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs17040500	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17089	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs1838879	0.88[EUR][1000 genomes]
rs2044485	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs34577944	0.83[EUR][1000 genomes]
rs35458070	0.83[EUR][1000 genomes]
rs4143794	0.87[YRI][hapmap]
rs4143796	0.93[YRI][hapmap]
rs4853290	0.82[EUR][1000 genomes]
rs58936967	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6547106	0.89[EUR][1000 genomes]
rs6547107	0.95[CEU][hapmap];0.96[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6547108	0.95[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs6547109	0.95[CEU][hapmap];0.96[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6547111	0.95[CEU][hapmap];0.96[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6547113	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs6706194	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs6724799	0.88[EUR][1000 genomes]
rs6737296	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs6741095	0.83[EUR][1000 genomes]
rs6750979	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs6758707	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72823154	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7556871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561189	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs7569919	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7569994	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7595678	0.83[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	esv2756931	chr2:77185856-77209051	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2759066	chr2:77185856-77209051	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2762264	chr2:77202107-77206452	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77203000-77206600	Enhancers	Fetal Lung	lung
2	chr2:77203800-77206800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:77204600-77206200	Enhancers	HUVEC	blood vessel
4	chr2:77204800-77205400	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:77205000-77206800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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