Variant report

Variant	rs4393745
Chromosome Location	chr2:152594206-152594207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:152594061-152594229	SH-SY5Y	brain:	n/a	chr2:152594092-152594102 chr2:152594092-152594099 chr2:152594150-152594162 chr2:152594090-152594099 chr2:152594089-152594101

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152585426..152588067-chr2:152592929..152595399,2	K562	blood:

Variant related genes	Relation type
NEB	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10165921	0.85[JPT][hapmap]
rs10170273	0.85[GIH][hapmap]
rs10171724	0.83[EUR][1000 genomes]
rs10172692	0.81[ASN][1000 genomes]
rs10178880	0.82[GIH][hapmap]
rs10180065	0.92[ASN][1000 genomes]
rs10184063	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10198530	0.81[ASN][1000 genomes]
rs10198531	0.82[ASN][1000 genomes]
rs10754989	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11682909	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11894672	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11896217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12470190	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12472627	0.87[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs12618063	0.87[GIH][hapmap]
rs12620077	0.82[GIH][hapmap]
rs12693116	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs16830418	1.00[CEU][hapmap]
rs1916301	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1916302	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2030588	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2293221	0.84[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs3922996	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922997	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233654	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4266011	0.87[ASN][1000 genomes]
rs4300824	0.89[GIH][hapmap];0.85[JPT][hapmap]
rs4306714	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4316939	0.85[JPT][hapmap]
rs4414677	0.87[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[ASN][1000 genomes]
rs4450595	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4453694	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4510224	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536649	0.82[GIH][hapmap]
rs4552188	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4605370	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4664494	0.82[GIH][hapmap]
rs4664498	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs4664499	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.86[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap]
rs6712443	0.87[GIH][hapmap]
rs6712533	0.87[GIH][hapmap]
rs6715027	0.92[ASN][1000 genomes]
rs6715607	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718439	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6740508	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6749823	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6759419	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7424335	0.92[GIH][hapmap];0.95[JPT][hapmap]
rs7426114	0.82[GIH][hapmap]
rs7557801	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7564024	0.83[GIH][hapmap]
rs7564630	0.92[ASN][1000 genomes]
rs7580820	0.82[ASN][1000 genomes]
rs7581532	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583060	0.92[ASN][1000 genomes]
rs7583148	0.92[ASN][1000 genomes]
rs7592798	0.86[ASN][1000 genomes]
rs9287998	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.82[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:152587000-152596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:152588000-152595600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:152590800-152595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:152592000-152595400	Weak transcription	Psoas Muscle	Psoas
6	chr2:152592000-152595800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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