Variant report

Variant	rs2280139
Chromosome Location	chr12:57845706-57845707
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	MAFK	chr12:57845680-57845940	HepG2	liver:	n/a	chr12:57845831-57845846
2	NR2F2	chr12:57844835-57845785	HepG2	liver:	n/a	n/a
3	MYBL2	chr12:57845009-57845715	HepG2	liver:	n/a	n/a
4	FOS	chr12:57845705-57845736	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr12:57845335-57846344	A549	lung:	n/a	chr12:57846117-57846127 chr12:57846117-57846127 chr12:57846117-57846127
6	JUND	chr12:57845267-57845817	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
2	chr12:57844795..57846828-chr12:57912360..57915235,2	K562	blood:
3	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
4	chr12:57843448..57846710-chr12:57847033..57851571,4	MCF-7	breast:

Variant related genes	Relation type
INHBE	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10747777	0.80[JPT][hapmap]
rs10783818	0.95[JPT][hapmap]
rs10783819	0.80[JPT][hapmap]
rs10876976	0.95[JPT][hapmap]
rs10876980	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876983	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172156	0.95[JPT][hapmap]
rs11172169	0.95[JPT][hapmap]
rs11172170	0.81[JPT][hapmap]
rs11172190	0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs11172191	0.84[EUR][1000 genomes]
rs11172205	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172211	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172214	0.91[EUR][1000 genomes]
rs11172222	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230111	0.86[EUR][1000 genomes]
rs12296766	0.80[JPT][hapmap]
rs12310220	0.80[JPT][hapmap]
rs12423654	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12579911	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812140	0.95[JPT][hapmap]
rs1284252	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1798710	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs2063778	0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28504983	0.83[EUR][1000 genomes]
rs4108243	0.80[ASN][1000 genomes]
rs4760236	0.80[JPT][hapmap]
rs4760244	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760308	0.90[JPT][hapmap]
rs481196	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs491750	0.80[JPT][hapmap]
rs533975	0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs537482	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs543410	0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs560048	0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs568793	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs575153	0.80[JPT][hapmap]
rs6581136	0.81[JPT][hapmap]
rs7132367	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs7133939	0.81[JPT][hapmap]
rs7135142	0.95[JPT][hapmap]
rs7298418	0.95[JPT][hapmap]
rs7307059	0.80[JPT][hapmap]
rs7309659	0.80[JPT][hapmap]
rs7486863	0.95[JPT][hapmap]
rs9738004	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57825600-57848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57841800-57846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:57842000-57846000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:57843600-57850400	Enhancers	Fetal Intestine Large	intestine
5	chr12:57844000-57850400	Enhancers	Fetal Intestine Small	intestine
6	chr12:57844200-57846200	Enhancers	Fetal Heart	heart
7	chr12:57844200-57847200	Enhancers	Fetal Muscle Leg	muscle
8	chr12:57844400-57846200	Enhancers	Osteobl	bone
9	chr12:57844400-57847000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57844400-57847000	Enhancers	HSMMtube	muscle
11	chr12:57844600-57846200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:57844600-57846200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:57844600-57846800	Flanking Active TSS	HepG2	liver
14	chr12:57844600-57847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:57844800-57846800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:57844800-57846800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:57844800-57847400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:57844800-57848600	Enhancers	K562	blood
19	chr12:57845000-57845800	Enhancers	Left Ventricle	heart
20	chr12:57845000-57846200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:57845000-57846200	Enhancers	A549	lung
22	chr12:57845000-57846200	Enhancers	NH-A	brain
23	chr12:57845000-57846800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:57845000-57846800	Enhancers	HSMM	muscle
25	chr12:57845000-57846800	Enhancers	NHDF-Ad	bronchial
26	chr12:57845000-57846800	Enhancers	NHLF	lung
27	chr12:57845000-57847400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:57845000-57848600	Enhancers	Liver	Liver
29	chr12:57845200-57846200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:57845200-57846200	Weak transcription	Right Ventricle	heart
31	chr12:57845200-57846200	Enhancers	Hela-S3	cervix
32	chr12:57845200-57846400	Weak transcription	Right Atrium	heart
33	chr12:57845200-57846800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:57845200-57846800	Enhancers	Colon Smooth Muscle	Colon
35	chr12:57845200-57846800	Enhancers	Fetal Brain Male	brain
36	chr12:57845400-57845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:57845400-57846200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:57845400-57846200	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:57845400-57846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:57845400-57846400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:57845400-57846600	Enhancers	Brain Angular Gyrus	brain
42	chr12:57845400-57846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:57845400-57846800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:57845600-57846200	Weak transcription	Pancreas	Pancrea
45	chr12:57845600-57846200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:57845600-57846600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:57845600-57846800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:57845600-57846800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:57845600-57846800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:57845600-57846800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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