Variant report

Variant	rs7298175
Chromosome Location	chr12:119443891-119443892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10851060	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10851061	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10851062	0.83[CEU][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11069220	1.00[CEU][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11069223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11069224	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11069225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11069226	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12099608	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12321836	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1405047	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1525945	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1525946	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1525947	1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1525948	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1525957	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1976923	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177838	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2393466	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4357755	0.92[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4523746	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4526826	0.88[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4767756	0.92[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4767757	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4767758	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767759	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6490220	0.84[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490221	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490227	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6490228	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6490229	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66694569	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7133570	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7294812	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7298478	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7306122	0.88[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7306928	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7308063	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7312999	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7313274	0.88[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7958250	0.91[CEU][hapmap]
rs7962190	1.00[CEU][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7976598	0.87[CEU][hapmap]
rs869716	0.88[CEU][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs940913	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs940914	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs940915	0.92[AMR][1000 genomes];0.92[EUR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:119442000-119444200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:119442400-119444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:119442400-119444800	Enhancers	Fetal Brain Female	brain
10	chr12:119442400-119446400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:119442600-119444200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:119442600-119444600	Enhancers	Fetal Stomach	stomach
13	chr12:119442800-119444000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:119442800-119444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:119442800-119444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:119443000-119444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:119443000-119444400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:119443000-119445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:119443000-119447600	Enhancers	Fetal Brain Male	brain
20	chr12:119443200-119446800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:119443400-119445000	Enhancers	Fetal Lung	lung
22	chr12:119443600-119444600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:119443800-119444200	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:119443800-119444800	Flanking Active TSS	Brain Germinal Matrix	brain

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