Variant report

Variant	rs13065538
Chromosome Location	chr3:67482153-67482154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13059542	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13061360	1.00[AMR][1000 genomes]
rs13067498	1.00[AMR][1000 genomes]
rs13069691	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13069994	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13075287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13079607	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13081336	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13082800	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13083595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13083912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13084859	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13088154	0.85[AMR][1000 genomes]
rs13088840	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13090398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13090709	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13094834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34483858	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35119821	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9878135	0.96[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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription 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 target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67435600-67509800	Weak transcription	Ovary	ovary
2	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
3	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
4	chr3:67451200-67487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:67463000-67487400	Weak transcription	Pancreas	Pancrea
6	chr3:67463200-67484200	Weak transcription	Right Ventricle	heart
7	chr3:67465400-67489600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:67466600-67484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:67466600-67486200	Weak transcription	Left Ventricle	heart
10	chr3:67466600-67508400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:67470600-67482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:67471200-67487600	Weak transcription	A549	lung
13	chr3:67471200-67503800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:67471400-67497600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:67471600-67483400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:67471600-67483800	Weak transcription	Fetal Lung	lung
17	chr3:67471600-67486600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:67471600-67487600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:67471600-67489200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:67471600-67518800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:67471800-67487800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:67472000-67482400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:67472000-67506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:67472000-67509800	Weak transcription	HSMM	muscle
25	chr3:67472600-67483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:67473400-67492200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:67473400-67521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:67473600-67487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:67473600-67487400	Weak transcription	Liver	Liver
30	chr3:67473600-67542000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:67474000-67482400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:67474200-67482200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:67475000-67482400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:67475000-67482400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:67475400-67482400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:67476200-67482400	Weak transcription	Primary T cells from cord blood	blood
37	chr3:67476600-67482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:67478200-67512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:67478600-67492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:67478800-67483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:67479000-67485800	Weak transcription	Fetal Intestine Small	intestine
42	chr3:67481400-67493400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:67481800-67482400	Weak transcription	GM12878-XiMat	blood

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