Variant report

Variant	rs3136499
Chromosome Location	chr11:46758290-46758291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46757054..46759693-chr11:46760177..46761810,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10838612	0.83[ASN][1000 genomes]
rs11038977	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602036	0.83[AMR][1000 genomes]
rs11602537	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11604876	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574512	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575609	0.80[AMR][1000 genomes]
rs1799867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070850	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070851	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3136441	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136447	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3136449	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136457	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3136458	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3136460	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4076557	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4453193	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4453194	0.84[AMR][1000 genomes]
rs4491174	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4534535	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4603265	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4752931	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752932	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752933	0.83[AMR][1000 genomes]
rs57704144	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58561056	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58922799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5896	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61337452	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3136499	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
5	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
6	chr11:46751200-46760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:46751200-46761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:46751400-46760200	Weak transcription	A549	lung
10	chr11:46751400-46760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:46752000-46760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:46752000-46762800	Weak transcription	Gastric	stomach
14	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus
15	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
16	chr11:46756200-46758400	Genic enhancers	Liver	Liver
17	chr11:46757400-46762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:46757400-46762800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:46757800-46758400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:46757800-46758400	Genic enhancers	HepG2	liver
21	chr11:46757800-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:46757800-46762800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:46758000-46758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:46758000-46758800	Enhancers	HUVEC	blood vessel
25	chr11:46758000-46758800	Enhancers	Osteobl	bone
26	chr11:46758000-46761400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:46758000-46762600	Weak transcription	Fetal Brain Female	brain
28	chr11:46758200-46758800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:46758200-46761200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:46758200-46761200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:46758200-46763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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