Variant report

Variant	rs34809544
Chromosome Location	chr12:11805466-11805467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12580759	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12809794	0.81[ASN][1000 genomes]
rs12820094	0.81[ASN][1000 genomes]
rs12825857	0.81[ASN][1000 genomes]
rs12826301	0.81[ASN][1000 genomes]
rs12830471	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12831402	0.81[ASN][1000 genomes]
rs2541119	0.81[ASN][1000 genomes]
rs2724625	0.81[ASN][1000 genomes]
rs2724627	0.81[ASN][1000 genomes]
rs2724632	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34038917	0.81[ASN][1000 genomes]
rs34364159	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34744715	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34771084	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34826165	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34845319	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35250129	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35534801	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35651671	0.81[ASN][1000 genomes]
rs35929278	0.81[ASN][1000 genomes]
rs36060832	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71455399	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455400	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71455401	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7957020	0.81[ASN][1000 genomes]
rs7963043	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34809544	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11801200-11805600	Active TSS	Fetal Muscle Trunk	muscle
2	chr12:11801200-11805800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:11801200-11806000	Active TSS	GM12878-XiMat	blood
4	chr12:11801400-11805600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:11801400-11805600	Active TSS	Right Atrium	heart
6	chr12:11801400-11805800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:11801400-11805800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:11801400-11805800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:11801400-11805800	Active TSS	Aorta	Aorta
10	chr12:11801400-11805800	Active TSS	Fetal Stomach	stomach
11	chr12:11801400-11805800	Active TSS	Lung	lung
12	chr12:11801400-11805800	Active TSS	Right Ventricle	heart
13	chr12:11801400-11805800	Active TSS	Thymus	Thymus
14	chr12:11801400-11805800	Active TSS	NHDF-Ad	bronchial
15	chr12:11801400-11806000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:11801400-11806000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:11801400-11806200	Active TSS	Colonic Mucosa	Colon
18	chr12:11801600-11805600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:11801600-11805600	Active TSS	Colon Smooth Muscle	Colon
20	chr12:11801600-11805600	Active TSS	Left Ventricle	heart
21	chr12:11801600-11805600	Active TSS	Stomach Mucosa	stomach
22	chr12:11801600-11805800	Active TSS	Ovary	ovary
23	chr12:11801800-11805600	Active TSS	Fetal Thymus	thymus
24	chr12:11801800-11805600	Active TSS	NH-A	brain
25	chr12:11801800-11805800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:11803000-11806400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:11803400-11806200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:11803400-11806600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr12:11803600-11806200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:11803600-11806400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:11803600-11806600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr12:11803600-11806600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:11803600-11809800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:11803800-11806400	Flanking Active TSS	Fetal Lung	lung
35	chr12:11803800-11806600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:11804000-11805600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:11804000-11805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:11804000-11805800	Weak transcription	Spleen	Spleen
39	chr12:11804000-11806200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr12:11804200-11805800	Flanking Active TSS	Liver	Liver
41	chr12:11804200-11806000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:11804200-11806000	Weak transcription	Gastric	stomach
43	chr12:11804200-11806400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:11804200-11806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:11804200-11806400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr12:11804200-11814000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:11804400-11806400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:11804400-11806800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:11804400-11808000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:11804600-11805600	Active TSS	Osteobl	bone

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