Variant report

Variant	rs35929278
Chromosome Location	chr12:11827153-11827154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11826428..11828100-chr12:11830041..11832923,3	K562	blood:
2	chr12:11823719..11826354-chr12:11826397..11829138,2	MCF-7	breast:
3	chr12:11826577..11828100-chr12:11830041..11832923,2	K562	blood:

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

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

rs_ID	r²[population]
rs12301681	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580759	0.85[ASN][1000 genomes]
rs12809794	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829015	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12829658	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12830471	0.85[ASN][1000 genomes]
rs12831402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111048	0.84[EUR][1000 genomes]
rs2541119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724625	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724627	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038917	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34364159	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34744715	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34771084	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34809544	0.81[ASN][1000 genomes]
rs34826165	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34845319	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35250129	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35534801	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35651671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36060832	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455399	0.85[ASN][1000 genomes]
rs71455400	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455401	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957020	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963043	0.88[EUR][1000 genomes];0.95[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
rs35929278	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:11815000-11836800	Weak transcription	NHEK	skin
7	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
9	chr12:11815200-11837800	Weak transcription	NH-A	brain
10	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:11819600-11828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:11820400-11828800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:11821400-11828200	Genic enhancers	GM12878-XiMat	blood
16	chr12:11821600-11830200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:11822000-11829600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:11822000-11850000	Weak transcription	HMEC	breast
19	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:11822600-11829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:11823600-11829800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:11824200-11829000	Enhancers	Fetal Thymus	thymus
23	chr12:11824600-11827200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:11824600-11828800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:11824600-11829800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:11824800-11827800	Enhancers	Brain Substantia Nigra	brain
27	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:11825000-11827400	Enhancers	Liver	Liver
29	chr12:11825000-11828200	Enhancers	Dnd41	blood
30	chr12:11825000-11828600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:11825000-11829400	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:11825000-11830200	Enhancers	Spleen	Spleen
33	chr12:11825200-11827400	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:11825200-11828400	Enhancers	Fetal Lung	lung
35	chr12:11825200-11828800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:11825200-11830000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:11825400-11829600	Enhancers	Right Atrium	heart
38	chr12:11825400-11829600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:11825400-11830000	Enhancers	Left Ventricle	heart
40	chr12:11825600-11827200	Weak transcription	Primary T cells from cord blood	blood
41	chr12:11825600-11828600	Weak transcription	Fetal Kidney	kidney
42	chr12:11825600-11829800	Enhancers	Adipose Nuclei	Adipose
43	chr12:11825600-11829800	Enhancers	Right Ventricle	heart
44	chr12:11825800-11828000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:11825800-11828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:11825800-11828400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:11825800-11830200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:11826000-11827200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:11826000-11827600	Enhancers	Brain Anterior Caudate	brain
50	chr12:11826000-11827800	Enhancers	Thymus	Thymus

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