Variant report

Variant	rs6013892
Chromosome Location	chr20:52724216-52724217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52724131..52725049-chr20:52811640..52812520,3	MCF-7	breast:
2	chr17:56735058..56736827-chr20:52722139..52724469,2	MCF-7	breast:
3	chr20:52724144..52724969-chr20:52740147..52740907,3	MCF-7	breast:
4	chr20:46410730..46421216-chr20:52711028..52724253,28	MCF-7	breast:
5	chr20:52563890..52565885-chr20:52722350..52724626,2	MCF-7	breast:
6	chr20:52722574..52724626-chr20:52869342..52872286,2	MCF-7	breast:
7	chr20:52724187..52724972-chr20:52765344..52766235,2	MCF-7	breast:
8	chr20:52723619..52725920-chr3:64253075..64254751,2	MCF-7	breast:
9	chr20:52724037..52725259-chr20:52815793..52816754,4	MCF-7	breast:
10	chr20:47443701..47445803-chr20:52721884..52724869,2	MCF-7	breast:
11	chr20:52724144..52724766-chr20:52740147..52740984,3	MCF-7	breast:
12	chr17:56736414..56738076-chr20:52723790..52727568,3	MCF-7	breast:
13	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000163637	Chromatin interaction
ENSG00000124126	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1477641	0.89[CEU][hapmap]
rs6013891	0.89[CEU][hapmap]
rs6022964	0.89[CEU][hapmap]
rs6022967	0.91[ASN][1000 genomes]
rs6097766	0.82[EUR][1000 genomes]
rs6097767	0.89[EUR][1000 genomes]
rs8123293	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv586280	chr20:52718555-52758416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52720200-52726600	Weak transcription	Placenta	Placenta
2	chr20:52721200-52724800	Enhancers	HMEC	breast
3	chr20:52721200-52725000	Enhancers	NHEK	skin
4	chr20:52721600-52725000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:52721800-52724800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52721800-52725000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:52721800-52725200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:52722000-52724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:52723400-52725000	Flanking Active TSS	A549	lung
10	chr20:52723600-52725200	Flanking Active TSS	HepG2	liver
11	chr20:52723800-52725000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:52723800-52725200	Enhancers	Fetal Intestine Small	intestine
13	chr20:52723800-52725200	Enhancers	Fetal Kidney	kidney
14	chr20:52724000-52724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:52724000-52724800	Enhancers	Fetal Lung	lung
16	chr20:52724000-52724800	Enhancers	Stomach Mucosa	stomach
17	chr20:52724000-52725200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:52724200-52724400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr20:52724200-52724600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr20:52724200-52724600	Enhancers	Duodenum Mucosa	Duodenum
21	chr20:52724200-52724600	Enhancers	Esophagus	oesophagus
22	chr20:52724200-52724600	Enhancers	Gastric	stomach
23	chr20:52724200-52724600	Bivalent Enhancer	Left Ventricle	heart
24	chr20:52724200-52724600	Enhancers	Pancreas	Pancrea
25	chr20:52724200-52724600	Enhancers	Small Intestine	intestine
26	chr20:52724200-52724800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr20:52724200-52724800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:52724200-52724800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr20:52724200-52724800	Enhancers	HSMMtube	muscle
30	chr20:52724200-52725200	Enhancers	Liver	Liver
31	chr20:52724200-52725200	Enhancers	Fetal Intestine Large	intestine
32	chr20:52724200-52725200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr20:52724200-52725200	Enhancers	K562	blood

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