Variant report

Variant	rs61735059
Chromosome Location	chr20:1299014-1299015
allele	A/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	POLR2A	chr20:1298836-1299123	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1298486..1301392-chr20:1305931..1307465,3	MCF-7	breast:
2	chr20:1296607..1299079-chr20:1367748..1369670,2	K562	blood:
3	chr20:1296232..1299079-chr20:1367748..1370124,3	K562	blood:

Variant related genes	Relation type
SDCBP2	TF binding region
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6041254	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1067393	chr20:1254805-1302796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv912588	chr20:1269588-1300456	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv912594	chr20:1283523-1299968	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv912595	chr20:1283523-1313762	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1283800-1301800	Weak transcription	HSMMtube	muscle
2	chr20:1284200-1303600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:1289600-1305000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:1293400-1302200	Weak transcription	Esophagus	oesophagus
5	chr20:1294000-1299200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:1294200-1299600	Weak transcription	Fetal Intestine Large	intestine
7	chr20:1294200-1301600	Weak transcription	Spleen	Spleen
8	chr20:1294200-1302000	Weak transcription	Gastric	stomach
9	chr20:1294200-1302200	Weak transcription	Pancreas	Pancrea
10	chr20:1294200-1305600	Weak transcription	Ovary	ovary
11	chr20:1294400-1300000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:1294400-1301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:1294400-1304800	Weak transcription	Placenta	Placenta
14	chr20:1294600-1299600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr20:1294600-1302800	Weak transcription	NHEK	skin
16	chr20:1294600-1305200	Weak transcription	Colon Smooth Muscle	Colon
17	chr20:1294600-1305200	Weak transcription	Fetal Thymus	thymus
18	chr20:1294600-1305400	Weak transcription	Colonic Mucosa	Colon
19	chr20:1294800-1302200	Weak transcription	Adipose Nuclei	Adipose
20	chr20:1294800-1305200	Weak transcription	Dnd41	blood
21	chr20:1295000-1300800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr20:1295000-1302200	Weak transcription	Stomach Mucosa	stomach
23	chr20:1295000-1302200	Weak transcription	HUVEC	blood vessel
24	chr20:1296000-1301800	Strong transcription	Fetal Intestine Small	intestine
25	chr20:1297400-1300800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr20:1298200-1300400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:1298400-1299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:1298600-1299600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:1298600-1300200	Enhancers	Osteobl	bone
30	chr20:1298600-1302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:1298600-1302800	Weak transcription	NHLF	lung
32	chr20:1298600-1305000	Weak transcription	A549	lung
33	chr20:1298800-1299200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:1298800-1299200	Bivalent Enhancer	HepG2	liver
35	chr20:1298800-1300000	Weak transcription	Lung	lung
36	chr20:1298800-1300400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr20:1298800-1300600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:1298800-1302200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:1298800-1303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:1298800-1303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:1298800-1303800	Weak transcription	Hela-S3	cervix
42	chr20:1299000-1300600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr20:1299000-1302000	Weak transcription	Liver	Liver
44	chr20:1299000-1302800	Weak transcription	NHDF-Ad	bronchial
45	chr20:1299000-1303200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:1299000-1305200	Weak transcription	GM12878-XiMat	blood

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