Variant report

Variant	rs35250129
Chromosome Location	chr12:11820611-11820612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11818842..11821642-chr12:11823610..11825732,2	K562	blood:
2	chr12:11818730..11821682-chr12:11929813..11932777,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12301681	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580759	0.80[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12829658	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12830471	0.84[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	0.80[AMR][1000 genomes]
rs34038917	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34364159	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34744715	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809544	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34826165	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34845319	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534801	1.00[AFR][1000 genomes];0.89[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	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455399	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71455400	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455401	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957020	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963043	0.89[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
rs35250129	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
2	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
3	chr12:11812200-11832600	Weak transcription	A549	lung
4	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:11812800-11821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:11813400-11820800	Enhancers	Left Ventricle	heart
10	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:11814800-11826600	Weak transcription	Osteobl	bone
12	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:11815000-11825600	Weak transcription	Small Intestine	intestine
14	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:11815000-11836800	Weak transcription	NHEK	skin
16	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:11815200-11821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
19	chr12:11815200-11837800	Weak transcription	NH-A	brain
20	chr12:11815400-11825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:11816200-11825200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:11816400-11820800	Weak transcription	Gastric	stomach
24	chr12:11816400-11821200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:11816400-11821600	Weak transcription	Liver	Liver
26	chr12:11816400-11825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:11816400-11825600	Weak transcription	Aorta	Aorta
28	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:11816600-11821600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:11816600-11824200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:11816800-11825200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:11816800-11825200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:11817000-11821600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:11817000-11821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:11817000-11825200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:11817200-11821600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:11817200-11825000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:11817200-11827000	Weak transcription	HSMM	muscle
39	chr12:11817400-11821400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:11817600-11821200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:11817600-11821600	Weak transcription	Brain Substantia Nigra	brain
43	chr12:11817800-11825600	Weak transcription	Esophagus	oesophagus
44	chr12:11818000-11821600	Weak transcription	Pancreas	Pancrea
45	chr12:11818000-11821600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:11818000-11827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:11818200-11822200	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:11818200-11825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:11818400-11825600	Weak transcription	Fetal Stomach	stomach
50	chr12:11818600-11821400	Strong transcription	GM12878-XiMat	blood

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