Variant report

Variant	rs2286135
Chromosome Location	chr14:72169758-72169759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1005605	0.82[ASN][1000 genomes]
rs10132111	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10137642	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139519	1.00[JPT][hapmap]
rs1204988	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1204992	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1204995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1204996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1204997	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12880188	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12896900	1.00[JPT][hapmap]
rs1468373	0.82[ASN][1000 genomes]
rs1981588	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs2286136	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784064	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3825719	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4140797	0.82[ASN][1000 genomes]
rs4140799	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899398	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7140501	1.00[JPT][hapmap]
rs7142343	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7148679	0.82[ASN][1000 genomes]
rs7156313	1.00[JPT][hapmap]
rs7350725	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs757744	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006300	0.82[CHD][hapmap]
rs8015004	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9672060	0.93[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2286135	ACOT2	cis	parietal	SCAN
rs2286135	PCNX	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
3	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
4	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
12	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
13	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
15	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:72153000-72175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:72153200-72175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:72156800-72176000	Weak transcription	HepG2	liver
19	chr14:72157000-72175800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:72159600-72172000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:72159800-72170000	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:72159800-72171600	Weak transcription	Pancreas	Pancrea
23	chr14:72159800-72172400	Weak transcription	Spleen	Spleen
24	chr14:72160200-72169800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:72160200-72171400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:72160200-72171800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:72160200-72176000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:72160200-72177600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:72160200-72191400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:72160200-72202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:72160800-72175400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:72161000-72169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:72161200-72171800	Weak transcription	Thymus	Thymus
34	chr14:72162600-72169800	Weak transcription	Brain Substantia Nigra	brain
35	chr14:72162600-72176000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:72163800-72177800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:72164000-72171600	Weak transcription	Gastric	stomach
38	chr14:72164200-72178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:72164800-72172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:72165200-72202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:72165400-72180600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:72165600-72172600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:72165800-72170400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:72165800-72178600	Weak transcription	Ovary	ovary
45	chr14:72166000-72172000	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:72166400-72171000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:72166400-72171000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:72166400-72171600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:72166400-72171800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:72166400-72171800	Weak transcription	Lung	lung

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