Variant report

Variant	rs1793395
Chromosome Location	chr11:75294333-75294334
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	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:
2	chr11:75110425..75112120-chr11:75294136..75297612,3	K562	blood:

Variant related genes	Relation type
ENSG00000149257	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1228367	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585433	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs588955	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs589063	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs599816	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs601142	0.81[JPT][hapmap]
rs609131	0.81[JPT][hapmap]
rs611221	0.81[JPT][hapmap]
rs617449	1.00[JPT][hapmap]
rs636418	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs648930	0.81[JPT][hapmap]
rs650766	0.84[ASN][1000 genomes]
rs694844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1793395	CTD-2530H12.4	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75293600-75294400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:75293600-75294400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr11:75293600-75294400	Flanking Active TSS	HUVEC	blood vessel
4	chr11:75293600-75294400	Flanking Active TSS	NH-A	brain
5	chr11:75293600-75295800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:75293600-75295800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:75293800-75294400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:75293800-75294400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:75293800-75294400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:75293800-75294400	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr11:75293800-75294400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:75293800-75294400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr11:75293800-75294400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:75293800-75294400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:75293800-75294400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:75293800-75294400	Enhancers	Fetal Heart	heart
17	chr11:75293800-75294400	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr11:75293800-75294400	Flanking Active TSS	Fetal Thymus	thymus
19	chr11:75293800-75294400	Flanking Active TSS	HSMM	muscle
20	chr11:75293800-75294400	Flanking Active TSS	NHEK	skin
21	chr11:75293800-75294600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:75293800-75294800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:75293800-75294800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:75293800-75294800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:75293800-75294800	Flanking Bivalent TSS/Enh	Dnd41	blood
26	chr11:75293800-75295000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75293800-75295000	Active TSS	Fetal Brain Female	brain
28	chr11:75293800-75295200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:75293800-75295200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:75293800-75295400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr11:75293800-75295400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:75293800-75295400	Active TSS	Ovary	ovary
33	chr11:75293800-75295600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:75293800-75295600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr11:75293800-75295600	Active TSS	HSMMtube	muscle
36	chr11:75293800-75295600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:75294000-75294400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:75294000-75294400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:75294000-75294400	Flanking Active TSS	Liver	Liver
40	chr11:75294000-75294400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr11:75294000-75294400	Flanking Active TSS	Spleen	Spleen
42	chr11:75294000-75294600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr11:75294000-75294800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:75294000-75295000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:75294000-75295000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:75294000-75295000	Active TSS	Lung	lung
47	chr11:75294000-75295000	Active TSS	Psoas Muscle	Psoas
48	chr11:75294000-75295200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:75294000-75295200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:75294000-75295200	Active TSS	Aorta	Aorta

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