Variant report

Variant	rs962927
Chromosome Location	chr12:12652734-12652735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12648268..12650303-chr12:12651543..12653516,2	MCF-7	breast:
2	chr12:12651288..12653412-chr12:12663902..12666446,2	MCF-7	breast:
3	chr12:12652584..12654636-chr12:12656031..12658126,2	K562	blood:
4	chr12:12652555..12654241-chr12:12737918..12739812,2	MCF-7	breast:
5	chr12:12644427..12647332-chr12:12650507..12652988,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10743988	0.83[EUR][1000 genomes]
rs10845552	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs10845556	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845559	0.92[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs10845560	0.92[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs10845562	0.81[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs10845567	0.87[CEU][hapmap]
rs10845568	0.89[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs11054937	0.83[EUR][1000 genomes]
rs11054941	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11610879	0.94[ASN][1000 genomes]
rs12422540	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12424448	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs12819116	0.92[ASW][hapmap];0.81[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs17312926	0.81[CEU][hapmap]
rs17379216	0.89[GIH][hapmap];0.84[TSI][hapmap]
rs2287206	0.80[MKK][hapmap]
rs2417191	0.81[CEU][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap]
rs4255620	0.83[EUR][1000 genomes]
rs7310652	0.83[EUR][1000 genomes]
rs736107	0.92[GIH][hapmap]
rs747726	0.81[CEU][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs888197	0.89[GIH][hapmap];0.80[MEX][hapmap]
rs933575	0.88[CEU][hapmap];0.82[MKK][hapmap]
rs962928	0.92[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs962927	TAS2R31	cis	cerebellum	SCAN
rs962927	ETV6	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
3	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:12630600-12661200	Weak transcription	NHEK	skin
6	chr12:12630800-12655800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
10	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
11	chr12:12632800-12658200	Weak transcription	Ovary	ovary
12	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
13	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
14	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
15	chr12:12636000-12653400	Weak transcription	Right Ventricle	heart
16	chr12:12636200-12655800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:12636800-12656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:12639400-12652800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:12639600-12655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:12639600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:12640000-12652800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:12640000-12656600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:12640000-12658000	Weak transcription	NHLF	lung
25	chr12:12640000-12658200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:12640000-12658200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:12640000-12658200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12640200-12652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:12640200-12656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:12640400-12659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:12641200-12658200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:12641600-12658800	Weak transcription	HUVEC	blood vessel
33	chr12:12641600-12663600	Weak transcription	Lung	lung
34	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:12641800-12654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:12642400-12653200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:12643200-12652800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:12645400-12655800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:12646200-12652800	Enhancers	Brain Hippocampus Middle	brain
40	chr12:12646200-12658200	Weak transcription	Aorta	Aorta
41	chr12:12646400-12654200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:12646400-12655800	Weak transcription	Small Intestine	intestine
43	chr12:12646400-12658000	Weak transcription	K562	blood
44	chr12:12646600-12653400	Weak transcription	Fetal Stomach	stomach
45	chr12:12646800-12653600	Strong transcription	Fetal Intestine Large	intestine
46	chr12:12646800-12657400	Weak transcription	Left Ventricle	heart
47	chr12:12646800-12659200	Weak transcription	Gastric	stomach
48	chr12:12647000-12655800	Weak transcription	Psoas Muscle	Psoas
49	chr12:12647000-12661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:12647800-12653000	Strong transcription	Liver	Liver

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