Variant report

Variant	rs11039124
Chromosome Location	chr11:47214223-47214224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:47213693-47214248	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:47213468-47214274	MCF-7	breast:	n/a	n/a
3	STAT1	chr11:47213733-47214281	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr11:47213526-47214285	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
2	chr11:47213506..47215073-chr11:47222663..47225533,2	MCF-7	breast:
3	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
4	chr11:47214149..47216188-chr11:47236572..47238228,2	K562	blood:

Variant related genes	Relation type
ENSG00000243802	TF binding region
ENSG00000134574	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10466478	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1055447	0.87[ASN][1000 genomes]
rs1060573	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769233	0.85[ASN][1000 genomes]
rs10769234	0.86[ASN][1000 genomes]
rs10769239	0.89[ASN][1000 genomes]
rs10838654	0.87[ASN][1000 genomes]
rs10838659	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838660	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039074	0.86[ASN][1000 genomes]
rs11039086	0.89[ASN][1000 genomes]
rs11039097	0.89[ASN][1000 genomes]
rs11039105	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039107	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039112	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039119	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039134	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11600668	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224096	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12291341	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12796744	0.89[ASN][1000 genomes]
rs12807887	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1872896	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965952	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1976142	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1976143	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018527	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2029298	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4237547	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4319472	0.89[ASN][1000 genomes]
rs4567413	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4579897	0.85[ASN][1000 genomes]
rs4752952	0.86[ASN][1000 genomes]
rs4752957	0.89[ASN][1000 genomes]
rs4752962	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752963	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752967	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752971	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57323109	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6485721	0.82[ASN][1000 genomes]
rs6485722	0.81[ASN][1000 genomes]
rs6485739	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7103581	0.85[ASN][1000 genomes]
rs7108902	0.85[ASN][1000 genomes]
rs7111764	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7119952	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7121418	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7125807	0.82[ASN][1000 genomes]
rs7128325	0.82[ASN][1000 genomes]
rs747650	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7479189	0.86[ASN][1000 genomes]
rs7937101	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937950	0.87[ASN][1000 genomes]
rs7942473	0.89[ASN][1000 genomes]
rs7945315	0.89[ASN][1000 genomes]
rs7946709	0.87[ASN][1000 genomes]
rs9633886	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv975171	chr11:47209667-47215620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11039124	DDB2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47209200-47216000	Weak transcription	Esophagus	oesophagus
2	chr11:47210200-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:47210200-47226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:47211200-47215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:47211400-47214800	Weak transcription	NHEK	skin
6	chr11:47211400-47215200	Weak transcription	Osteobl	bone
7	chr11:47211400-47215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:47211400-47215400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:47211400-47215600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:47211600-47214800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:47211600-47215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:47211800-47215600	Weak transcription	NH-A	brain
13	chr11:47212200-47215400	Weak transcription	A549	lung
14	chr11:47213000-47216800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47213000-47216800	Enhancers	Placenta	Placenta
16	chr11:47213200-47216600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:47213800-47214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:47214000-47214400	Weak transcription	Fetal Intestine Small	intestine
19	chr11:47214000-47214400	Weak transcription	HepG2	liver
20	chr11:47214000-47214800	Enhancers	Hela-S3	cervix
21	chr11:47214000-47215400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:47214000-47215400	Weak transcription	HMEC	breast
23	chr11:47214200-47215400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:47214200-47215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:47214200-47216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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