Variant report

Variant	rs73415674
Chromosome Location	chr12:122432990-122432991
allele	G/T
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	EP300	chr12:122432883-122433263	HepG2	liver:	n/a	n/a
2	FOXA2	chr12:122432971-122433217	HepG2	liver:	n/a	n/a
3	TEAD4	chr12:122432805-122433361	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122429414..122431335-chr12:122431461..122433062,2	MCF-7	breast:

Variant related genes	Relation type
WDR66	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10431199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840642	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11043255	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043263	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043277	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043286	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043290	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043292	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043295	0.94[ASN][1000 genomes]
rs11829607	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12230823	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34768683	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4069668	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56040016	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56122558	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142842	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58326739	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59922210	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137708	0.81[EUR][1000 genomes]
rs7138296	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415687	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415696	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7961660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971538	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978386	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
3	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
4	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
5	chr12:122429400-122433800	Weak transcription	Fetal Lung	lung
6	chr12:122430200-122434800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:122430400-122433000	Weak transcription	HepG2	liver
8	chr12:122430400-122433800	Weak transcription	Fetal Heart	heart
9	chr12:122430400-122441000	Weak transcription	HSMMtube	muscle
10	chr12:122430400-122441600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:122430800-122433000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:122430800-122433000	Weak transcription	A549	lung
13	chr12:122430800-122433000	Weak transcription	NHEK	skin
14	chr12:122430800-122433400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122430800-122433400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:122430800-122433400	Weak transcription	Thymus	Thymus
17	chr12:122430800-122433800	Weak transcription	NHLF	lung
18	chr12:122430800-122434200	Weak transcription	Osteobl	bone
19	chr12:122430800-122434600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122430800-122434600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:122430800-122434600	Weak transcription	NHDF-Ad	bronchial
22	chr12:122430800-122434800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:122430800-122434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122430800-122434800	Weak transcription	Left Ventricle	heart
25	chr12:122430800-122438800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122431000-122433400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:122431000-122433400	Weak transcription	Fetal Thymus	thymus
28	chr12:122431000-122433600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:122431000-122433600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:122431000-122433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:122431000-122433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:122431000-122433800	Weak transcription	Primary B cells from cord blood	blood
33	chr12:122431000-122434200	Weak transcription	NH-A	brain
34	chr12:122431000-122434800	Weak transcription	HMEC	breast
35	chr12:122431000-122442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:122432800-122433200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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