Variant report

Variant	rs11896217
Chromosome Location	chr2:152591189-152591190
allele	A/G
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	USF1	chr2:152590733-152591297	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
NEB	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10165921	0.85[JPT][hapmap]
rs10170273	0.85[GIH][hapmap]
rs10171724	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10172692	0.82[ASN][1000 genomes]
rs10178880	0.82[GIH][hapmap]
rs10180065	0.94[ASN][1000 genomes]
rs10184063	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10198530	0.82[ASN][1000 genomes]
rs10198531	0.84[ASN][1000 genomes]
rs10754989	0.81[EUR][1000 genomes];0.84[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];0.86[ASN][1000 genomes]
rs11894672	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12464543	0.81[CHD][hapmap]
rs12470190	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12472627	0.87[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs12618063	0.87[GIH][hapmap]
rs12620077	0.82[GIH][hapmap]
rs12693116	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16830418	1.00[CEU][hapmap]
rs1916301	0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1916302	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030588	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293221	0.86[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3922996	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3922997	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233654	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266011	0.88[ASN][1000 genomes]
rs4300824	0.89[GIH][hapmap];0.85[JPT][hapmap]
rs4306714	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4316939	0.85[JPT][hapmap]
rs4393745	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]
rs4414677	0.87[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[ASN][1000 genomes]
rs4450595	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4453694	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4510224	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[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];0.97[ASN][1000 genomes]
rs4536649	0.82[GIH][hapmap]
rs4552188	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4605370	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.87[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];0.98[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.88[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap]
rs6712443	0.87[GIH][hapmap]
rs6712533	0.87[GIH][hapmap]
rs6715027	0.93[ASN][1000 genomes]
rs6715607	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6716286	0.81[CHD][hapmap]
rs6718439	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6740508	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6749823	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6759419	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7424335	0.92[GIH][hapmap];0.95[JPT][hapmap]
rs7426114	0.82[GIH][hapmap]
rs7557801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564024	0.83[GIH][hapmap]
rs7564630	0.94[ASN][1000 genomes]
rs7580820	0.83[ASN][1000 genomes]
rs7581532	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7583060	0.94[ASN][1000 genomes]
rs7583148	0.94[ASN][1000 genomes]
rs7592798	0.87[ASN][1000 genomes]
rs9287998	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];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

No data

Chromatin state (count:20 , 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	chr2:152587600-152591200	Active TSS	Fetal Muscle Trunk	muscle
4	chr2:152588000-152595600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:152589200-152591200	Weak transcription	Stomach Mucosa	stomach
6	chr2:152590000-152591400	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr2:152590000-152591600	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr2:152590400-152591200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:152590400-152591400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:152590600-152591400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:152590600-152591400	Enhancers	HSMM	muscle
12	chr2:152590800-152591400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:152590800-152591400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:152590800-152591400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:152590800-152591400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:152590800-152595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:152591000-152591400	Flanking Active TSS	HSMMtube	muscle
18	chr2:152591000-152591600	Weak transcription	Psoas Muscle	Psoas
19	chr2:152591000-152591800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:152591000-152592200	Enhancers	Fetal Muscle Leg	muscle

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