Variant report

Variant	rs7395059
Chromosome Location	chr11:34494569-34494570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1033509	0.83[ASN][1000 genomes]
rs10488737	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10742316	0.83[ASN][1000 genomes]
rs12421999	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16925614	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16925662	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16925668	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16925673	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16925678	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2076556	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208675	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs208677	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs208680	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs208681	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs208682	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs208683	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2231819	0.85[EUR][1000 genomes]
rs2300182	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2746169	0.83[ASN][1000 genomes]
rs3758735	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758736	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758737	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758738	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4755374	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756146	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4756151	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4756155	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756156	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs489554	0.89[ASN][1000 genomes]
rs5026711	0.83[ASN][1000 genomes]
rs55633825	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55665450	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55941777	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56291727	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs564250	0.91[ASN][1000 genomes]
rs7102889	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104121	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7104394	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7106485	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109462	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7109778	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115064	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126085	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126243	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7130331	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7130345	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72923163	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72924903	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72924928	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72927347	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72927368	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72927369	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7928866	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935626	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7938373	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7395059	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs7395059	CAT	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
2	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
3	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:34482400-34495000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:34483400-34501600	Weak transcription	HMEC	breast
12	chr11:34487800-34495000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:34487800-34496600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:34487800-34496600	Strong transcription	Hela-S3	cervix
15	chr11:34487800-34497000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:34488000-34496400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:34488800-34495200	Strong transcription	Ovary	ovary
18	chr11:34489000-34495200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:34489200-34494800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr11:34489200-34495200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:34489200-34495600	Strong transcription	Primary B cells from cord blood	blood
22	chr11:34489400-34494600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:34489400-34494800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:34489400-34495200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:34489400-34496400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:34489400-34496600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:34489400-34496800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:34489600-34494600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:34489600-34495000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:34489600-34496400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:34489600-34496800	Strong transcription	Adipose Nuclei	Adipose
32	chr11:34489800-34494600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:34489800-34494600	Strong transcription	Lung	lung
34	chr11:34489800-34494800	Strong transcription	Fetal Intestine Small	intestine
35	chr11:34489800-34495000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:34489800-34495200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:34489800-34495200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:34489800-34495200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:34489800-34495200	Strong transcription	Thymus	Thymus
40	chr11:34489800-34496000	Strong transcription	Fetal Stomach	stomach
41	chr11:34489800-34496000	Strong transcription	Left Ventricle	heart
42	chr11:34490000-34495200	Strong transcription	Fetal Thymus	thymus
43	chr11:34490000-34495200	Strong transcription	HSMMtube	muscle
44	chr11:34490000-34495600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:34490000-34495600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:34490000-34496400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:34490200-34495200	Strong transcription	Fetal Brain Female	brain
48	chr11:34490200-34497000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:34490600-34495200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:34490600-34495200	Strong transcription	Fetal Lung	lung

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