Variant report

Variant	rs7119952
Chromosome Location	chr11:47235056-47235057
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47223065..47227984-chr11:47233675..47238356,6	MCF-7	breast:
2	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
3	chr11:47196838..47200214-chr11:47234555..47238435,7	MCF-7	breast:
4	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
5	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
6	chr11:47234882..47238296-chr11:47268822..47272499,5	MCF-7	breast:
7	chr11:47197774..47202059-chr11:47234538..47239113,7	MCF-7	breast:
8	chr11:47234491..47236431-chr11:47278921..47281536,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149182	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10466478	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1055447	0.86[ASN][1000 genomes]
rs1060573	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769233	0.82[ASN][1000 genomes]
rs10769234	0.83[ASN][1000 genomes]
rs10769239	0.86[ASN][1000 genomes]
rs10838654	0.84[ASN][1000 genomes]
rs10838659	0.89[ASN][1000 genomes]
rs10838660	0.89[ASN][1000 genomes]
rs11039074	0.83[ASN][1000 genomes]
rs11039086	0.86[ASN][1000 genomes]
rs11039097	0.86[ASN][1000 genomes]
rs11039105	0.89[ASN][1000 genomes]
rs11039107	0.89[ASN][1000 genomes]
rs11039112	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039119	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039124	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039134	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11600668	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12224096	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12291341	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12796744	0.86[ASN][1000 genomes]
rs12807887	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872896	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1965952	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1976142	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976143	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2018527	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2029298	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237547	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4319472	0.86[ASN][1000 genomes]
rs4567413	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4579897	0.82[ASN][1000 genomes]
rs4752952	0.83[ASN][1000 genomes]
rs4752957	0.86[ASN][1000 genomes]
rs4752962	0.88[ASN][1000 genomes]
rs4752963	0.87[ASN][1000 genomes]
rs4752967	0.89[ASN][1000 genomes]
rs4752971	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57323109	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485739	0.88[ASN][1000 genomes]
rs7103581	0.82[ASN][1000 genomes]
rs7108902	0.82[ASN][1000 genomes]
rs7111764	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121418	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747650	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7479189	0.83[ASN][1000 genomes]
rs7937101	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937950	0.84[ASN][1000 genomes]
rs7942473	0.86[ASN][1000 genomes]
rs7945315	0.86[ASN][1000 genomes]
rs7946709	0.84[ASN][1000 genomes]
rs9633886	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119952	DDB2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47226400-47235800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:47227200-47235600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:47231600-47235200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:47232000-47235800	Weak transcription	HMEC	breast
5	chr11:47232400-47235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:47232400-47235600	Weak transcription	NHEK	skin
7	chr11:47233000-47235400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:47234400-47235200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:47234400-47235400	Enhancers	HepG2	liver
10	chr11:47234400-47235600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:47234400-47235800	Enhancers	Placenta	Placenta
12	chr11:47234600-47235200	Weak transcription	Fetal Intestine Small	intestine
13	chr11:47234600-47235400	Enhancers	Dnd41	blood
14	chr11:47234600-47235600	Enhancers	Esophagus	oesophagus
15	chr11:47234600-47235600	Weak transcription	Osteobl	bone
16	chr11:47234600-47235800	Enhancers	Spleen	Spleen
17	chr11:47234600-47235800	Weak transcription	NH-A	brain
18	chr11:47234800-47235600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:47234800-47235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:47234800-47235600	Weak transcription	Liver	Liver
21	chr11:47234800-47235600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:47234800-47235800	Weak transcription	Gastric	stomach
23	chr11:47234800-47235800	Weak transcription	K562	blood
24	chr11:47234800-47236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:47234800-47236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:47235000-47235600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:47235000-47235600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:47235000-47235600	Enhancers	Stomach Smooth Muscle	stomach

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