Variant report

Variant	rs13429680
Chromosome Location	chr2:20383179-20383180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20380951..20386083-chr2:20391129..20397009,8	MCF-7	breast:
2	chr2:20377278..20381105-chr2:20382551..20387503,5	K562	blood:
3	chr2:20337465..20342202-chr2:20382545..20388364,6	MCF-7	breast:
4	chr2:20342469..20346864-chr2:20382569..20386022,5	MCF-7	breast:
5	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
6	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10176811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382254	1.00[AMR][1000 genomes]
rs13383365	1.00[AMR][1000 genomes]
rs2002089	1.00[EUR][1000 genomes]
rs6531226	1.00[EUR][1000 genomes]
rs9430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	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
9	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
10	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
11	esv991709	chr2:20376888-20383371	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20367800-20383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:20373000-20384200	Weak transcription	Fetal Lung	lung
3	chr2:20376200-20386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:20377200-20386200	Enhancers	Esophagus	oesophagus
5	chr2:20377200-20388200	Enhancers	Stomach Mucosa	stomach
6	chr2:20377400-20384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:20377400-20390000	Enhancers	Placenta	Placenta
8	chr2:20377600-20386000	Enhancers	Liver	Liver
9	chr2:20378400-20386600	Enhancers	HMEC	breast
10	chr2:20379400-20384400	Weak transcription	Fetal Kidney	kidney
11	chr2:20380000-20385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:20380200-20383600	Weak transcription	Pancreas	Pancrea
13	chr2:20380200-20384600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:20380400-20383400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:20380400-20383600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:20380400-20383600	Enhancers	HepG2	liver
17	chr2:20380400-20384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:20380400-20385000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20380400-20385800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:20381000-20384200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:20381400-20386400	Enhancers	NHEK	skin
22	chr2:20381400-20387200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20381600-20386200	Enhancers	Hela-S3	cervix
24	chr2:20381600-20387400	Enhancers	NH-A	brain
25	chr2:20381600-20388000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20381800-20384600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:20382000-20383800	Weak transcription	Lung	lung
28	chr2:20382000-20384600	Flanking Active TSS	A549	lung
29	chr2:20382200-20383200	Enhancers	NHDF-Ad	bronchial
30	chr2:20382200-20384000	Weak transcription	Colonic Mucosa	Colon
31	chr2:20382200-20386600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:20382200-20386800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:20382400-20384200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:20382600-20383200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:20382600-20385200	Enhancers	Gastric	stomach
36	chr2:20383000-20383600	Weak transcription	Osteobl	bone
37	chr2:20383000-20385400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:20383000-20385800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:20383000-20385800	Weak transcription	K562	blood

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