Variant report

Variant	rs71435547
Chromosome Location	chr2:20356672-20356673
allele	C/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	MTA3	chr2:20356462-20357663	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:20355453-20357488	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213729	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13005609	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987418	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34929699	0.81[ASN][1000 genomes]
rs35720501	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1005923	chr2:20344028-20369781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv581156	chr2:20346312-20356944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv999131	chr2:20350751-20377607	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20351000-20356800	Weak transcription	Osteobl	bone
3	chr2:20351200-20356800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:20351200-20357000	Weak transcription	Fetal Lung	lung
5	chr2:20351200-20363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20351400-20356800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:20351400-20356800	Weak transcription	HSMM	muscle
8	chr2:20354200-20356800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:20354200-20357000	Weak transcription	HMEC	breast
10	chr2:20354200-20366800	Weak transcription	Placenta	Placenta
11	chr2:20355200-20357800	Enhancers	Stomach Mucosa	stomach
12	chr2:20355400-20356800	Enhancers	GM12878-XiMat	blood
13	chr2:20355400-20357000	Enhancers	Fetal Intestine Small	intestine
14	chr2:20355600-20357000	Enhancers	Fetal Intestine Large	intestine
15	chr2:20356000-20357000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:20356400-20357000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:20356400-20357600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:20356600-20357200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:20356600-20357200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:20356600-20357200	Enhancers	Colonic Mucosa	Colon
21	chr2:20356600-20357200	Enhancers	Pancreas	Pancrea
22	chr2:20356600-20357200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:20356600-20357400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr2:20356600-20357600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20356600-20357600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:20356600-20357600	Enhancers	Liver	Liver
27	chr2:20356600-20357600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr2:20356600-20357600	Enhancers	HepG2	liver

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