Variant report

Variant	rs4309576
Chromosome Location	chr2:152612245-152612246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152607686..152609730-chr2:152611993..152614512,2	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: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10167462	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs10170273	0.94[CEU][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap]
rs10178880	0.94[CEU][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs10193188	1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs1054883	0.88[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[ASN][1000 genomes]
rs10930740	0.85[EUR][1000 genomes]
rs10930777	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683122	0.80[ASN][1000 genomes]
rs11683683	0.87[ASN][1000 genomes]
rs11692839	0.83[ASN][1000 genomes]
rs11695661	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs12052828	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs12464543	1.00[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.88[EUR][1000 genomes]
rs12472627	0.81[GIH][hapmap]
rs12616767	0.94[CEU][hapmap]
rs12620077	0.94[CEU][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs12693090	0.84[EUR][1000 genomes]
rs13015219	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13032138	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs13404704	0.94[CEU][hapmap];0.84[JPT][hapmap]
rs1357468	0.87[CEU][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap]
rs1523180	0.85[EUR][1000 genomes]
rs1799	0.82[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[ASN][1000 genomes]
rs2344733	0.94[CEU][hapmap]
rs4077121	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4077122	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4267505	0.85[EUR][1000 genomes]
rs4273217	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4274593	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4289189	0.86[EUR][1000 genomes]
rs4300824	0.81[GIH][hapmap]
rs4349344	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4355107	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4374369	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4375863	0.89[EUR][1000 genomes]
rs4381781	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4413159	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.89[EUR][1000 genomes]
rs4414677	0.81[GIH][hapmap]
rs4425075	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4465763	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4508593	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4508594	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4536649	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs4564766	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.86[EUR][1000 genomes]
rs4611637	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[EUR][1000 genomes]
rs4614931	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4625904	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664494	0.82[CEU][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap]
rs4664497	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4664498	0.83[GIH][hapmap]
rs4664501	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4664502	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433566	0.85[EUR][1000 genomes]
rs6433569	0.80[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs6433575	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433603	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433606	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433610	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6713162	0.94[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs6715755	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6716286	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[EUR][1000 genomes]
rs6723129	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6729101	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs6730589	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6733811	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs6733909	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs6734148	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6735208	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs6760384	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7424335	0.83[GIH][hapmap]
rs7426114	0.94[CEU][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs7563441	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7564024	0.93[CEU][hapmap];0.88[GIH][hapmap]
rs7564674	0.86[EUR][1000 genomes]
rs7596744	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs9287990	0.94[CEU][hapmap];0.86[GIH][hapmap]
rs9789671	0.84[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4309576	NEB	cis	parietal	SCAN

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	chr2:152609400-152617200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:152611000-152616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:152611200-152612800	Weak transcription	Left Ventricle	heart
9	chr2:152611200-152612800	Weak transcription	Psoas Muscle	Psoas
10	chr2:152611200-152617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:152611200-152620400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:152611400-152612600	Weak transcription	HepG2	liver
13	chr2:152611600-152622600	Enhancers	K562	blood
14	chr2:152611800-152614800	Enhancers	Fetal Heart	heart
15	chr2:152612000-152622200	Enhancers	Skeletal Muscle Female	skeletal muscle

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