Variant report

Variant	rs4664498
Chromosome Location	chr2:152575417-152575418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152575377..152577212-chr2:152579516..152582033,2	MCF-7	breast:
2	chr2:152573927..152576457-chr2:152683878..152686418,2	K562	blood:
3	chr2:152575075..152576644-chr2:152586756..152588663,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10165921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10170273	0.92[GIH][hapmap]
rs10178880	0.90[GIH][hapmap]
rs10180065	0.89[EUR][1000 genomes]
rs10185966	0.90[JPT][hapmap];0.80[YRI][hapmap]
rs10200512	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11676866	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11682909	0.90[GIH][hapmap];0.80[JPT][hapmap]
rs11695661	0.83[GIH][hapmap]
rs11894672	0.90[GIH][hapmap];0.86[JPT][hapmap]
rs11896217	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs12464543	0.81[GIH][hapmap]
rs12472627	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap]
rs12618063	0.88[CEU][hapmap];0.95[GIH][hapmap]
rs12620077	0.90[GIH][hapmap]
rs13016166	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1523181	0.92[GIH][hapmap];0.86[JPT][hapmap]
rs1916301	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs2030588	0.81[JPT][hapmap]
rs34577613	0.81[EUR][1000 genomes]
rs3768658	0.92[GIH][hapmap];0.91[JPT][hapmap]
rs4300824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4316939	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4375863	0.83[ASN][1000 genomes]
rs4393745	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs4413159	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.83[ASN][1000 genomes]
rs4414677	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs4453694	0.90[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs4510224	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs4536649	0.90[GIH][hapmap]
rs4564766	0.81[GIH][hapmap]
rs4611637	0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.83[ASN][1000 genomes]
rs4614931	0.81[GIH][hapmap]
rs4664066	0.90[GIH][hapmap];0.85[JPT][hapmap]
rs4664494	0.90[GIH][hapmap]
rs4664496	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4664499	0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs58903550	0.81[EUR][1000 genomes]
rs6433569	0.81[GIH][hapmap]
rs6433590	0.95[JPT][hapmap]
rs6711382	0.88[CEU][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs6711914	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6712443	0.87[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs6712533	0.88[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs6713162	0.87[GIH][hapmap]
rs6715027	0.89[EUR][1000 genomes]
rs6716286	0.83[GIH][hapmap]
rs6730589	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs6733909	0.81[GIH][hapmap]
rs6734148	0.83[GIH][hapmap]
rs6744121	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6760384	0.81[CHB][hapmap]
rs7424335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7426114	0.90[GIH][hapmap]
rs7564024	0.90[GIH][hapmap]
rs7564630	0.89[EUR][1000 genomes]
rs7583060	0.89[EUR][1000 genomes]
rs7583148	0.89[EUR][1000 genomes]
rs9287990	0.87[GIH][hapmap]
rs9288006	0.84[GIH][hapmap];0.91[JPT][hapmap]
rs9677576	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152562200-152582000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr2:152564600-152584000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:152574400-152575800	Genic enhancers	HSMMtube	muscle
4	chr2:152574600-152575600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr2:152575000-152577400	Weak transcription	Psoas Muscle	Psoas
6	chr2:152575400-152575600	Genic enhancers	Fetal Muscle Leg	muscle
7	chr2:152575400-152575800	ZNF genes & repeats	Aorta	Aorta
8	chr2:152575400-152575800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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