Variant report

Variant	rs34744715
Chromosome Location	chr12:11814986-11814987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11814350..11816547-chr12:11823249..11825105,2	K562	blood:
2	chr12:11814416..11816234-chr12:11817623..11820133,2	MCF-7	breast:
3	chr12:11801381..11803825-chr12:11814827..11819033,3	K562	blood:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12301681	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580759	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12809794	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12820094	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12825857	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826301	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12829015	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12829658	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12830471	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12831402	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2541119	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724625	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724627	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724632	0.90[AMR][1000 genomes]
rs34038917	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34364159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809544	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34826165	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34845319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250129	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534801	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35651671	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35929278	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36060832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455399	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71455400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957020	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs34744715	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
3	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:11806600-11819200	Weak transcription	NHLF	lung
5	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
6	chr12:11808600-11815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:11808600-11816400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:11808600-11818800	Genic enhancers	Primary hematopoietic stem cells	blood
9	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:11809200-11816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:11810000-11816200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:11810800-11818600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:11811000-11817000	Weak transcription	Fetal Kidney	kidney
14	chr12:11811600-11815600	Enhancers	Fetal Heart	heart
15	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
16	chr12:11812200-11816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:11812200-11818200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:11812200-11819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:11812200-11832600	Weak transcription	A549	lung
20	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:11812400-11815600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:11812400-11819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:11812600-11815000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:11812600-11815200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:11812600-11815200	Weak transcription	NHDF-Ad	bronchial
27	chr12:11812600-11815600	Strong transcription	Fetal Stomach	stomach
28	chr12:11812600-11815800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:11812800-11815600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:11812800-11815800	Weak transcription	HSMM	muscle
31	chr12:11812800-11816000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:11812800-11821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:11813000-11818800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:11813400-11816200	Strong transcription	Primary B cells from cord blood	blood
37	chr12:11813400-11816600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:11813400-11820800	Enhancers	Left Ventricle	heart
39	chr12:11813600-11815000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr12:11813600-11815000	Enhancers	Small Intestine	intestine
41	chr12:11813600-11815000	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr12:11813600-11815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:11813600-11816000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:11813600-11816400	Enhancers	Pancreas	Pancrea
45	chr12:11813600-11816600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:11813800-11815000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:11813800-11815000	Strong transcription	Fetal Intestine Small	intestine
48	chr12:11813800-11815200	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:11813800-11815200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:11813800-11815200	Genic enhancers	Aorta	Aorta

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