Variant report

Variant	rs4306714
Chromosome Location	chr2:152611351-152611352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152609521..152611955-chr2:152620722..152623899,3	K562	blood:
2	chr2:152610150..152612599-chr2:152612942..152616912,4	K562	blood:
3	chr2:152609521..152614454-chr2:152620655..152623899,5	K562	blood:
4	chr2:152610387..152612383-chr2:152614274..152616912,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10165921	0.85[JPT][hapmap]
rs10171724	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10180065	0.99[ASN][1000 genomes]
rs10184063	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10198530	0.87[ASN][1000 genomes]
rs10198531	0.89[ASN][1000 genomes]
rs10200512	0.80[ASN][1000 genomes]
rs10754989	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676866	0.80[ASN][1000 genomes]
rs11680834	0.89[YRI][hapmap]
rs11682909	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894672	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11896217	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464543	0.81[CHB][hapmap]
rs12470190	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12693116	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005519	0.89[YRI][hapmap]
rs13016166	0.80[ASN][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16830418	1.00[CEU][hapmap]
rs1916301	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1916302	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2030588	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293221	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922996	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3922997	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233654	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4266011	0.83[ASN][1000 genomes]
rs4300824	0.83[JPT][hapmap]
rs4303715	0.90[YRI][hapmap]
rs4393745	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4414677	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4450595	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4453694	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs4465763	0.85[CHB][hapmap]
rs4510224	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4552188	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4605370	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664497	0.81[CHB][hapmap]
rs4664498	0.83[JPT][hapmap]
rs4664499	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433656	0.89[YRI][hapmap]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.84[JPT][hapmap]
rs6715027	0.99[ASN][1000 genomes]
rs6715607	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716286	0.81[CHB][hapmap]
rs6718439	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6740508	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6744121	0.81[ASN][1000 genomes]
rs6749823	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap]
rs6759419	0.88[EUR][1000 genomes]
rs7424335	0.94[JPT][hapmap]
rs7557801	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563441	0.81[CHB][hapmap]
rs7564630	0.99[ASN][1000 genomes]
rs7580820	0.88[ASN][1000 genomes]
rs7581532	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583060	0.99[ASN][1000 genomes]
rs7583148	0.99[ASN][1000 genomes]
rs7592798	0.92[ASN][1000 genomes]
rs9287998	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152595800-152620200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152597200-152618400	Weak transcription	Aorta	Aorta
3	chr2:152598200-152618600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:152606000-152612600	Weak transcription	Right Atrium	heart
5	chr2:152606200-152611400	Enhancers	HepG2	liver
6	chr2:152609400-152617200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:152610600-152611400	Enhancers	Fetal Heart	heart
8	chr2:152611000-152616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:152611200-152611600	Weak transcription	K562	blood
11	chr2:152611200-152612000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:152611200-152612800	Weak transcription	Left Ventricle	heart
13	chr2:152611200-152612800	Weak transcription	Psoas Muscle	Psoas
14	chr2:152611200-152617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:152611200-152620400	Weak transcription	Fetal Muscle Leg	muscle

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