Variant report

Variant	rs2250825
Chromosome Location	chr12:11813579-11813580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11809727..11811317-chr12:11811716..11813734,2	K562	blood:
2	chr12:11812795..11814731-chr12:11815428..11817529,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1108211	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861482	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2111049	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541128	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724590	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2724626	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2856313	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6488442	0.85[EUR][1000 genomes]
rs6488443	0.85[EUR][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
rs2250825	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	chr12:11804200-11814000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:11806000-11813600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:11806000-11814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
6	chr12:11806400-11814000	Weak transcription	Colonic Mucosa	Colon
7	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:11806600-11813800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:11806600-11814000	Weak transcription	Gastric	stomach
10	chr12:11806600-11814400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:11806600-11814400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:11806600-11814600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:11806600-11819200	Weak transcription	NHLF	lung
14	chr12:11807000-11814400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:11807400-11813600	Weak transcription	Small Intestine	intestine
16	chr12:11807600-11814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
18	chr12:11808000-11814000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:11808000-11814200	Weak transcription	Psoas Muscle	Psoas
20	chr12:11808200-11814000	Weak transcription	Esophagus	oesophagus
21	chr12:11808600-11815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:11808600-11816400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:11808600-11818800	Genic enhancers	Primary hematopoietic stem cells	blood
24	chr12:11808800-11813600	Weak transcription	Pancreas	Pancrea
25	chr12:11808800-11814200	Enhancers	Thymus	Thymus
26	chr12:11808800-11814600	Weak transcription	Fetal Lung	lung
27	chr12:11809000-11814400	Weak transcription	Stomach Mucosa	stomach
28	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:11809200-11816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:11809600-11813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:11809800-11814000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:11810000-11816200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:11810200-11813800	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:11810200-11814400	Weak transcription	Placenta	Placenta
35	chr12:11810800-11814000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:11810800-11814200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:11810800-11814200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:11810800-11814200	Weak transcription	Adipose Nuclei	Adipose
39	chr12:11810800-11818600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:11811000-11814200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:11811000-11814200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:11811000-11814200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:11811000-11814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:11811000-11814400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:11811000-11817000	Weak transcription	Fetal Kidney	kidney
46	chr12:11811200-11814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:11811200-11814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:11811400-11814600	Enhancers	Liver	Liver
49	chr12:11811600-11814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:11811600-11815600	Enhancers	Fetal Heart	heart

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