Variant report

Variant	rs10879345
Chromosome Location	chr12:72346800-72346801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72343465..72346078-chr12:72346330..72349169,2	K562	blood:
2	chr12:72343124..72344965-chr12:72345375..72347830,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748188	0.81[EUR][1000 genomes]
rs10784947	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10879346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879349	0.80[EUR][1000 genomes]
rs10879350	0.87[JPT][hapmap]
rs10879351	0.92[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs11179002	1.00[JPT][hapmap]
rs11179027	0.86[JPT][hapmap]
rs11179033	0.87[JPT][hapmap]
rs11179039	0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap]
rs11834097	0.87[JPT][hapmap]
rs11834114	0.87[JPT][hapmap]
rs12229394	0.87[JPT][hapmap]
rs12319219	0.86[JPT][hapmap]
rs12322900	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1352250	0.92[CEU][hapmap]
rs1386498	0.90[CEU][hapmap]
rs1532008	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap]
rs1843810	0.82[YRI][hapmap]
rs1843811	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2171363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368049	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs4531512	0.81[EUR][1000 genomes]
rs4641528	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes]
rs4760750	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs4760754	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap]
rs4760755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap]
rs4760815	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4760817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57986383	0.80[AMR][1000 genomes]
rs6582073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6582074	0.81[EUR][1000 genomes]
rs6582077	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6582078	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs6582079	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6582080	0.81[EUR][1000 genomes]
rs7305115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7309686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs7954105	0.80[EUR][1000 genomes]
rs7954142	0.80[EUR][1000 genomes]
rs7955501	0.92[CEU][hapmap]
rs7963720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7967686	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs7969114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs7978692	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7979770	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap]

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	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72341600-72349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:72342400-72347400	Weak transcription	Liver	Liver
3	chr12:72343800-72347000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:72344000-72347400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:72344000-72348000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:72344000-72351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:72344800-72351800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:72344800-72351800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:72346200-72348000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:72346400-72347000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:72346400-72347200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:72346400-72347200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:72346400-72347200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:72346400-72347600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:72346400-72347600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:72346400-72348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:72346600-72347600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:72346600-72347800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:72346600-72350800	Weak transcription	NHLF	lung

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