Variant report

Variant	rs2856315
Chromosome Location	chr12:11836602-11836603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16907060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17745684	0.87[AMR][1000 genomes]
rs2541114	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2541120	1.00[MEX][hapmap]
rs2541127	0.87[EUR][1000 genomes]
rs2856303	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2856312	1.00[MEX][hapmap]
rs7297979	0.96[EUR][1000 genomes]
rs7959231	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7980119	0.96[EUR][1000 genomes];0.83[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
rs2856315	ETV6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:11815000-11836800	Weak transcription	NHEK	skin
3	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:11815200-11837800	Weak transcription	NH-A	brain
5	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:11822000-11850000	Weak transcription	HMEC	breast
7	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:11826200-11839200	Weak transcription	HepG2	liver
14	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:11827800-11851800	Weak transcription	Ovary	ovary
16	chr12:11828000-11836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:11828000-11837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:11829200-11837800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:11829400-11837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:11829400-11840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:11829400-11840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
23	chr12:11829600-11837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:11829600-11837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:11829600-11837800	Weak transcription	Right Atrium	heart
26	chr12:11829600-11838000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:11829600-11839600	Weak transcription	Placenta	Placenta
28	chr12:11829800-11837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:11829800-11839200	Weak transcription	Fetal Stomach	stomach
30	chr12:11830000-11839200	Weak transcription	Liver	Liver
31	chr12:11830400-11836800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:11830400-11840600	Weak transcription	Fetal Kidney	kidney
33	chr12:11830600-11837800	Weak transcription	Fetal Lung	lung
34	chr12:11830600-11840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:11831000-11837000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:11831000-11837800	Weak transcription	Lung	lung
37	chr12:11831000-11838800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:11831000-11842600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:11831000-11848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:11831200-11847200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:11831400-11836800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:11831400-11838200	Weak transcription	Primary T cells from cord blood	blood
43	chr12:11831400-11841000	Weak transcription	Aorta	Aorta
44	chr12:11831400-11845600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:11831600-11837000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:11831800-11837800	Weak transcription	Esophagus	oesophagus
48	chr12:11831800-11837800	Weak transcription	Pancreas	Pancrea
49	chr12:11831800-11837800	Weak transcription	Right Ventricle	heart
50	chr12:11831800-11837800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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