Variant report

Variant	rs58561056
Chromosome Location	chr11:46728971-46728972
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46727818..46730123-chrX:69570212..69571712,2	MCF-7	breast:
2	chr11:46726766..46729006-chr11:46732378..46735055,2	MCF-7	breast:
3	chr11:46698595..46700569-chr11:46727861..46730594,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10838612	0.86[ASN][1000 genomes]
rs11038977	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602036	0.80[AMR][1000 genomes]
rs11602537	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11604876	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12574512	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1799867	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070850	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2070851	0.92[ASN][1000 genomes]
rs3136441	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3136447	0.92[ASN][1000 genomes]
rs3136449	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3136457	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3136458	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3136460	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3136499	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076557	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4453193	0.83[AMR][1000 genomes]
rs4453194	0.82[AMR][1000 genomes]
rs4491174	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4534535	0.83[AMR][1000 genomes]
rs4603265	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4752931	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752932	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752933	0.80[AMR][1000 genomes]
rs56816820	0.83[AFR][1000 genomes]
rs57704144	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58922799	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5896	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61337452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58561056	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723600-46729600	Strong transcription	NHEK	skin
2	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
5	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:46723800-46729200	Strong transcription	Placenta	Placenta
7	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
8	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
9	chr11:46724000-46729000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:46724000-46729000	Strong transcription	HSMMtube	muscle
11	chr11:46724000-46729000	Strong transcription	NH-A	brain
12	chr11:46724000-46729200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46724000-46729200	Strong transcription	Thymus	Thymus
14	chr11:46724000-46729200	Strong transcription	K562	blood
15	chr11:46724000-46729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:46724000-46729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:46724000-46729600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:46724200-46729200	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:46724200-46729600	Strong transcription	NHLF	lung
24	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
25	chr11:46724400-46729000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:46724400-46729200	Strong transcription	Fetal Intestine Large	intestine
27	chr11:46724400-46729400	Strong transcription	Esophagus	oesophagus
28	chr11:46724400-46729600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:46724400-46729600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:46724400-46729600	Strong transcription	Aorta	Aorta
31	chr11:46724400-46729600	Strong transcription	Brain Angular Gyrus	brain
32	chr11:46724400-46729600	Strong transcription	Rectal Smooth Muscle	rectum
33	chr11:46724400-46729600	Strong transcription	Right Ventricle	heart
34	chr11:46724400-46729800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:46724400-46730000	Strong transcription	Fetal Brain Female	brain
36	chr11:46724400-46730200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:46724400-46730200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:46724400-46730200	Strong transcription	Osteobl	bone
39	chr11:46724400-46732200	Weak transcription	Right Atrium	heart
40	chr11:46724400-46733200	Strong transcription	Fetal Intestine Small	intestine
41	chr11:46724600-46729000	Strong transcription	Colonic Mucosa	Colon
42	chr11:46724600-46729200	Strong transcription	Primary B cells from cord blood	blood
43	chr11:46724600-46729400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:46724600-46729600	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:46724600-46730000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:46724600-46730400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:46724800-46729000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:46724800-46729000	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:46724800-46729000	Strong transcription	Brain Substantia Nigra	brain
50	chr11:46724800-46729000	Strong transcription	Lung	lung

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