Variant report

Variant	rs7271965
Chromosome Location	chr20:13099948-13099949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13099864..13101163-chr20:13242113..13243382,13	MCF-7	breast:
2	chr20:12950887..12951603-chr20:13099913..13100746,2	MCF-7	breast:
3	chr20:13099834..13100573-chr20:13242429..13243331,4	MCF-7	breast:
4	chr20:13099205..13100228-chr20:13526624..13527393,3	MCF-7	breast:
5	chr20:13086032..13088748-chr20:13097698..13100307,2	MCF-7	breast:
6	chr20:13099915..13100786-chr20:13283022..13283937,3	MCF-7	breast:
7	chr20:13099895..13100678-chr20:13283242..13284334,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11907026	1.00[EUR][1000 genomes]
rs11907467	1.00[EUR][1000 genomes]
rs11908209	0.93[AFR][1000 genomes]
rs11908439	1.00[EUR][1000 genomes]
rs11908459	1.00[EUR][1000 genomes]
rs16993615	1.00[EUR][1000 genomes]
rs399107	1.00[EUR][1000 genomes]
rs4428077	0.88[YRI][hapmap]
rs473182	1.00[EUR][1000 genomes]
rs6033571	1.00[EUR][1000 genomes]
rs6033580	1.00[EUR][1000 genomes]
rs6041745	1.00[EUR][1000 genomes]
rs6041746	1.00[EUR][1000 genomes]
rs6041754	1.00[EUR][1000 genomes]
rs6041756	1.00[EUR][1000 genomes]
rs6041773	1.00[EUR][1000 genomes]
rs6041778	1.00[EUR][1000 genomes]
rs73259037	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv833924	chr20:12997093-13189239	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13049600-13121800	Weak transcription	Primary T cells from cord blood	blood
2	chr20:13049800-13117600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:13071600-13108000	Weak transcription	Left Ventricle	heart
4	chr20:13072600-13100400	Weak transcription	Fetal Stomach	stomach
5	chr20:13073400-13101400	Weak transcription	Fetal Muscle Leg	muscle
6	chr20:13080800-13102400	Weak transcription	Thymus	Thymus
7	chr20:13083600-13114600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:13086200-13107600	Weak transcription	NHEK	skin
9	chr20:13086600-13123200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:13087000-13100400	Weak transcription	Fetal Lung	lung
11	chr20:13087000-13108200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:13087200-13101600	Strong transcription	Placenta	Placenta
13	chr20:13087800-13107200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:13088800-13103000	Strong transcription	Fetal Intestine Large	intestine
15	chr20:13091800-13127800	Weak transcription	Fetal Kidney	kidney
16	chr20:13092600-13100400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr20:13092800-13100000	Strong transcription	HepG2	liver
18	chr20:13093000-13144600	Weak transcription	Pancreas	Pancrea
19	chr20:13093200-13102600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr20:13093200-13106800	Weak transcription	Ovary	ovary
21	chr20:13093400-13108000	Weak transcription	Aorta	Aorta
22	chr20:13093400-13111000	Weak transcription	Lung	lung
23	chr20:13094200-13103400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:13094600-13114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:13094800-13101800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr20:13096600-13116600	Weak transcription	Right Ventricle	heart
27	chr20:13098400-13107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:13098600-13101400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:13098600-13105200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:13098800-13101200	Weak transcription	Fetal Intestine Small	intestine
31	chr20:13099200-13100000	Enhancers	Adipose Nuclei	Adipose
32	chr20:13099200-13100000	Enhancers	Dnd41	blood
33	chr20:13099200-13100200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:13099400-13100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr20:13099400-13102200	Weak transcription	Liver	Liver

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