Variant report

Variant	rs955134
Chromosome Location	chr12:118860977-118860978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1013641	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1503770	0.90[EUR][1000 genomes]
rs1699160	0.81[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs17625679	0.92[EUR][1000 genomes]
rs17625759	0.94[ASN][1000 genomes]
rs1971322	0.87[EUR][1000 genomes]
rs2062522	0.88[EUR][1000 genomes]
rs2279833	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34365267	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs428073	0.81[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs4304821	0.85[EUR][1000 genomes]
rs4366521	0.87[EUR][1000 genomes]
rs514826	0.88[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs556081	0.90[CHD][hapmap];0.90[JPT][hapmap]
rs55957752	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs58833755	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59848754	0.85[ASN][1000 genomes]
rs60840022	0.92[EUR][1000 genomes]
rs7136004	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7298005	0.82[ASN][1000 genomes]
rs7307848	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7311865	0.95[ASN][1000 genomes]
rs7316527	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7795	0.92[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs7952833	0.87[EUR][1000 genomes]
rs7966814	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7970613	0.85[EUR][1000 genomes]
rs7974630	0.87[EUR][1000 genomes]
rs7980279	0.87[EUR][1000 genomes]
rs882926	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs956873	0.93[ASN][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs955134	PEBP1	cis	cerebellum	SCAN
rs955134	IQCD	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
4	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:118854400-118867600	Weak transcription	Gastric	stomach
9	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
11	chr12:118854600-118867600	Weak transcription	Ovary	ovary
12	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:118854800-118861600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:118854800-118865400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:118854800-118865400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:118854800-118865600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
19	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:118855000-118863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:118855000-118865000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:118855000-118867000	Weak transcription	Liver	Liver
24	chr12:118855000-118867600	Weak transcription	Lung	lung
25	chr12:118855000-118867600	Weak transcription	Small Intestine	intestine
26	chr12:118855200-118862400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:118855200-118865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:118855200-118866000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:118855200-118866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:118855200-118868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:118855200-118870000	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:118855400-118861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:118855800-118861400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:118856000-118864000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:118856200-118865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:118856400-118865800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:118856600-118863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:118856600-118867600	Weak transcription	Pancreas	Pancrea
40	chr12:118856600-118868200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:118856800-118866600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:118856800-118868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:118857200-118864400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:118857400-118863800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:118857400-118869000	Weak transcription	Primary T cells from cord blood	blood
47	chr12:118857400-118870600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:118857600-118863800	Weak transcription	Brain Angular Gyrus	brain
49	chr12:118858600-118861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:118859800-118861600	Enhancers	HepG2	liver

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