Variant report

Variant	rs17120936
Chromosome Location	chr12:41119690-41119691
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	MAFF	chr12:41119651-41120106	HepG2	liver:	n/a	chr12:41119791-41119809
2	MAFF	chr12:41119669-41119985	K562	blood:	n/a	chr12:41119791-41119809
3	MAFK	chr12:41119652-41120150	HepG2	liver:	n/a	chr12:41119973-41119984 chr12:41119973-41119984
4	MAFK	chr12:41119634-41120098	IMR90	lung:	n/a	chr12:41119973-41119984 chr12:41119973-41119984
5	POLR2A	chr12:41119592-41119779	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000257680	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11832147	0.83[ASN][1000 genomes]
rs11834010	0.83[ASN][1000 genomes]
rs11836043	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1584091	0.83[ASN][1000 genomes]
rs1596509	1.00[JPT][hapmap]
rs1596514	0.83[ASN][1000 genomes]
rs1596539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17120927	0.83[ASN][1000 genomes]
rs17128561	1.00[AMR][1000 genomes]
rs17128568	1.00[AMR][1000 genomes]
rs17128643	1.00[AMR][1000 genomes]
rs17128669	0.83[ASN][1000 genomes]
rs17128670	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17128674	0.83[ASN][1000 genomes]
rs17128676	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17128701	0.83[ASN][1000 genomes]
rs17128710	0.83[ASN][1000 genomes]
rs17128725	1.00[AMR][1000 genomes]
rs17128729	1.00[AMR][1000 genomes]
rs17128740	1.00[AMR][1000 genomes]
rs17128744	1.00[AMR][1000 genomes]
rs2053630	0.83[ASN][1000 genomes]
rs4426201	0.83[ASN][1000 genomes]
rs60436538	0.83[ASN][1000 genomes]
rs6581931	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6581932	0.83[ASN][1000 genomes]
rs7132304	0.83[ASN][1000 genomes]
rs7301307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7965788	0.83[ASN][1000 genomes]
rs7966261	0.83[ASN][1000 genomes]
rs935230	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41092800-41121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41093800-41121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41119400-41120200	ZNF genes & repeats	A549	lung

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