Variant report

Variant	rs4453194
Chromosome Location	chr11:46787374-46787375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NANOG	chr11:46787311-46787490	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46777860..46782157-chr11:46783052..46787711,4	K562	blood:
2	chr11:46785236..46787820-chr11:46798096..46801052,2	MCF-7	breast:
3	chr11:46774351..46777025-chr11:46785365..46788115,2	K562	blood:
4	chr11:46785313..46788117-chr11:46804478..46806472,2	MCF-7	breast:
5	chr11:46775438..46777025-chr11:46785365..46787825,2	K562	blood:
6	chr11:46785964..46788289-chr11:46809938..46811766,2	K562	blood:

No data

Variant related genes	Relation type
SNORD67	TF binding region
ENSG00000263540	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000252427	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1007738	0.86[ASN][1000 genomes]
rs10734548	0.95[ASN][1000 genomes]
rs10734549	0.87[ASN][1000 genomes]
rs10742784	0.81[ASN][1000 genomes]
rs10769208	0.87[ASN][1000 genomes]
rs10769211	0.84[ASN][1000 genomes]
rs10769212	0.83[ASN][1000 genomes]
rs10838620	0.87[ASN][1000 genomes]
rs10838624	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10838627	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10838628	0.85[EUR][1000 genomes]
rs11038977	0.85[AMR][1000 genomes]
rs11038994	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038999	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039002	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039014	0.83[ASN][1000 genomes]
rs11039017	0.86[EUR][1000 genomes]
rs11602036	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602537	0.85[AMR][1000 genomes]
rs11604876	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12574512	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12575609	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12806577	0.82[ASN][1000 genomes]
rs1551744	0.85[ASN][1000 genomes]
rs1799867	0.87[AMR][1000 genomes]
rs1809293	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070850	0.84[AMR][1000 genomes]
rs2290883	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290884	0.83[ASN][1000 genomes]
rs2306026	0.83[ASN][1000 genomes]
rs2306028	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306033	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3136441	0.85[AMR][1000 genomes]
rs3136449	0.85[AMR][1000 genomes]
rs3136457	0.85[AMR][1000 genomes]
rs3136460	0.85[AMR][1000 genomes]
rs3136499	0.84[AMR][1000 genomes]
rs3816614	0.83[ASN][1000 genomes]
rs3829940	0.84[ASN][1000 genomes]
rs4075619	0.87[ASN][1000 genomes]
rs4076557	0.85[AMR][1000 genomes]
rs4294527	0.86[ASN][1000 genomes]
rs4453193	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4469848	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4491174	0.81[AMR][1000 genomes]
rs4534535	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752931	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4752932	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4752933	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752936	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752940	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752941	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752946	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752947	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57704144	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58389391	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58561056	0.82[AMR][1000 genomes]
rs58922799	0.83[AMR][1000 genomes]
rs5896	0.85[AMR][1000 genomes]
rs60258676	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61337452	0.82[AMR][1000 genomes]
rs6485692	0.91[ASN][1000 genomes]
rs6485695	0.87[ASN][1000 genomes]
rs7101374	0.87[ASN][1000 genomes]
rs7107778	0.85[ASN][1000 genomes]
rs7109707	0.87[ASN][1000 genomes]
rs7480140	0.86[ASN][1000 genomes]
rs7480260	0.86[ASN][1000 genomes]
rs7929294	0.94[ASN][1000 genomes]
rs7934421	0.86[ASN][1000 genomes]
rs7940578	0.90[ASN][1000 genomes]
rs7940682	0.94[ASN][1000 genomes]
rs7941894	0.90[ASN][1000 genomes]
rs7941964	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7943866	0.83[ASN][1000 genomes]
rs964551	0.83[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	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
2	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4453194	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	chr11:46760200-46794800	Strong transcription	A549	lung
2	chr11:46760400-46795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:46760600-46793800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:46761200-46787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:46761400-46795800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
9	chr11:46762400-46794200	Strong transcription	Adipose Nuclei	Adipose
10	chr11:46762600-46793200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr11:46762600-46794800	Strong transcription	Placenta	Placenta
12	chr11:46762600-46795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:46762600-46795200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:46762600-46795800	Strong transcription	Dnd41	blood
15	chr11:46762600-46804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:46762800-46792600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:46762800-46794200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:46762800-46794400	Strong transcription	HMEC	breast
21	chr11:46762800-46794800	Strong transcription	Hela-S3	cervix
22	chr11:46762800-46804800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:46762800-46835600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:46763200-46795600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:46763400-46787800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:46763600-46793200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:46763600-46794200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:46764400-46791800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:46764400-46794000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:46764600-46794800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:46766000-46795600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:46770200-46818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:46771400-46788600	Strong transcription	HUVEC	blood vessel
36	chr11:46771400-46793800	Strong transcription	Liver	Liver
37	chr11:46771600-46794800	Strong transcription	Osteobl	bone
38	chr11:46777600-46794800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:46779200-46788800	Strong transcription	NHDF-Ad	bronchial
41	chr11:46779400-46788600	Strong transcription	HSMM	muscle
42	chr11:46779400-46794200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:46779600-46787400	Strong transcription	Left Ventricle	heart
45	chr11:46779600-46793200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:46779600-46793400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:46779600-46795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:46779800-46793000	Strong transcription	Brain Germinal Matrix	brain
49	chr11:46780600-46814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:46781200-46790400	Weak transcription	Small Intestine	intestine

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