Variant report

Variant	rs6732451
Chromosome Location	chr2:62892332-62892333
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	TCF12	chr2:62891623-62892459	SK-N-SH	brain:	n/a	n/a
2	EP300	chr2:62889516-62892400	SK-N-SH	brain:	n/a	chr2:62889587-62889601 chr2:62890249-62890258 chr2:62891356-62891370 chr2:62891753-62891767 chr2:62889967-62889976

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62883737..62887558-chr2:62889986..62892467,3	K562	blood:

Variant related genes	Relation type
ENSG00000226622	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10048807	1.00[EUR][1000 genomes]
rs10188485	1.00[EUR][1000 genomes]
rs10190624	1.00[EUR][1000 genomes]
rs13383678	1.00[EUR][1000 genomes]
rs1487072	1.00[AMR][1000 genomes]
rs1487073	1.00[AMR][1000 genomes]
rs1527964	1.00[AMR][1000 genomes]
rs55650545	1.00[EUR][1000 genomes]
rs57127049	1.00[EUR][1000 genomes]
rs57287620	1.00[AMR][1000 genomes]
rs58276014	1.00[AMR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61210193	1.00[AMR][1000 genomes]
rs61356682	1.00[AMR][1000 genomes]
rs61378194	1.00[EUR][1000 genomes]
rs6708962	1.00[AMR][1000 genomes]
rs6709285	1.00[AMR][1000 genomes]
rs6709846	1.00[AMR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	1.00[EUR][1000 genomes]
rs6732313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883602	1.00[EUR][1000 genomes]
rs72888969	1.00[EUR][1000 genomes]
rs72890504	1.00[EUR][1000 genomes]
rs72890505	1.00[EUR][1000 genomes]
rs72890506	1.00[EUR][1000 genomes]
rs7598412	1.00[EUR][1000 genomes]
rs7599037	1.00[EUR][1000 genomes]
rs9751158	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv991290	chr2:62892328-62892339	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62886400-62893400	Enhancers	HMEC	breast
2	chr2:62886600-62892800	Enhancers	Osteobl	bone
3	chr2:62886600-62894000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:62886600-62894200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:62887200-62894000	Enhancers	HepG2	liver
6	chr2:62887400-62894000	Enhancers	Colon Smooth Muscle	Colon
7	chr2:62887400-62899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:62887600-62893600	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:62888000-62893800	Enhancers	Fetal Lung	lung
10	chr2:62888600-62892400	Weak transcription	Pancreas	Pancrea
11	chr2:62888600-62893200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:62888600-62893200	Enhancers	NHEK	skin
13	chr2:62889200-62892400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:62889400-62893000	Enhancers	Adipose Nuclei	Adipose
15	chr2:62889600-62892400	Enhancers	A549	lung
16	chr2:62889600-62894000	Enhancers	Fetal Stomach	stomach
17	chr2:62890000-62892600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:62890000-62893000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:62890000-62893400	Enhancers	Liver	Liver
20	chr2:62890000-62899000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:62890000-62899800	Weak transcription	Right Atrium	heart
22	chr2:62890400-62899000	Weak transcription	Ovary	ovary
23	chr2:62890600-62893200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:62890800-62892400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:62890800-62893200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:62890800-62893200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:62891000-62893000	Enhancers	NHLF	lung
28	chr2:62891000-62893600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:62891400-62892400	Enhancers	Placenta	Placenta
30	chr2:62891400-62893200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:62891800-62893600	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:62891800-62893800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:62891800-62894000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:62891800-62898000	Weak transcription	Fetal Heart	heart
35	chr2:62892000-62892400	Enhancers	Esophagus	oesophagus
36	chr2:62892000-62893800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:62892200-62892400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:62892200-62892400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:62892200-62893000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:62892200-62893600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:62892200-62894800	Enhancers	NHDF-Ad	bronchial
42	chr2:62892200-62898400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:62892200-62899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:62892200-62899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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