Variant report

Variant	rs13053314
Chromosome Location	chr22:34234463-34234464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34226044..34229431-chr22:34231299..34234951,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1009385	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12483818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13058342	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16993143	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16993180	0.85[ASN][1000 genomes]
rs2267299	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267301	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283950	0.85[AMR][1000 genomes]
rs34573078	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819667	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3827344	0.85[ASN][1000 genomes]
rs4820120	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67503539	0.86[ASN][1000 genomes]
rs67714362	0.85[ASN][1000 genomes]
rs68063018	0.85[ASN][1000 genomes]
rs762836	0.95[AMR][1000 genomes];0.96[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	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13053314	LARGE	cis	Artery Tibial	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34226600-34246200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:34228600-34234800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:34228800-34240000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34229000-34234600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:34231000-34236000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:34231400-34235400	Enhancers	Right Atrium	heart
7	chr22:34231400-34236000	Enhancers	Left Ventricle	heart
8	chr22:34231800-34238800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:34232000-34240400	Weak transcription	Esophagus	oesophagus
10	chr22:34232000-34244200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr22:34232200-34239200	Enhancers	Fetal Heart	heart
12	chr22:34232200-34240200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:34232200-34240200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:34232400-34235000	Weak transcription	Fetal Stomach	stomach
15	chr22:34232400-34235200	Weak transcription	Fetal Intestine Large	intestine
16	chr22:34232400-34235400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr22:34232600-34235200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:34232600-34235200	Enhancers	Fetal Lung	lung
19	chr22:34232600-34237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:34232600-34246800	Weak transcription	Gastric	stomach
21	chr22:34233000-34237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:34233400-34236000	Enhancers	Ovary	ovary
23	chr22:34233600-34234600	Enhancers	Lung	lung
24	chr22:34233600-34235600	Enhancers	Colon Smooth Muscle	Colon
25	chr22:34233600-34235800	Weak transcription	Psoas Muscle	Psoas
26	chr22:34233800-34235800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:34234000-34234800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:34234000-34235000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:34234000-34235200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:34234000-34235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:34234000-34235600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:34234000-34236600	Weak transcription	Right Ventricle	heart
33	chr22:34234000-34236800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:34234200-34234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:34234200-34235000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr22:34234200-34235200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:34234200-34235200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:34234200-34240200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:34234200-34243600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:34234200-34245200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:34234400-34234600	Enhancers	Pancreas	Pancrea
42	chr22:34234400-34234800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr22:34234400-34235000	Weak transcription	Fetal Intestine Small	intestine
44	chr22:34234400-34235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:34234400-34236000	Enhancers	Aorta	Aorta

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