Variant report

Variant	rs8018761
Chromosome Location	chr14:35440265-35440266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130702	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10130877	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10130911	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10132452	0.94[ASN][1000 genomes]
rs10133628	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10135024	0.95[ASN][1000 genomes]
rs10135457	0.94[ASN][1000 genomes]
rs10135654	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10143040	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10143749	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10145490	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10147046	0.94[ASN][1000 genomes]
rs10148463	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10149083	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10151096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151445	0.97[ASN][1000 genomes]
rs1028447	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050394	0.85[ASN][1000 genomes]
rs12433712	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12434719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437158	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12586945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589238	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12590905	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12878315	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12878685	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12878970	0.93[ASN][1000 genomes]
rs12881501	0.85[ASN][1000 genomes]
rs12882728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886340	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12887073	0.95[ASN][1000 genomes]
rs12887279	0.94[ASN][1000 genomes]
rs12891283	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891473	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17102982	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1955437	0.93[ASN][1000 genomes]
rs2250579	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2273155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383691	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2383692	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2383694	0.94[ASN][1000 genomes]
rs28373866	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28479817	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28627922	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28656938	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34793309	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35523754	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35768136	0.91[ASN][1000 genomes]
rs3759549	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4386037	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4981256	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4981257	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4982231	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4982232	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs55670220	0.95[ASN][1000 genomes]
rs57787567	0.93[ASN][1000 genomes]
rs6571691	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7144898	0.95[ASN][1000 genomes]
rs7147346	0.94[ASN][1000 genomes]
rs7154181	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7158547	0.93[ASN][1000 genomes]
rs7159696	0.95[ASN][1000 genomes]
rs72474105	0.88[ASN][1000 genomes]
rs8004237	0.97[ASN][1000 genomes]
rs8005641	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8006578	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8006908	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8012308	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8015059	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8015200	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8017611	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8020050	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8021502	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9322942	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8018761	SRP54	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:35417400-35449400	Weak transcription	Dnd41	blood
5	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
8	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
9	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
14	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
16	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
17	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
21	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
24	chr14:35424000-35440600	Weak transcription	NHEK	skin
25	chr14:35424000-35441000	Weak transcription	NHLF	lung
26	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
27	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:35425200-35441000	Weak transcription	Psoas Muscle	Psoas
29	chr14:35425800-35450000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:35425800-35450000	Weak transcription	Right Ventricle	heart
31	chr14:35425800-35450600	Weak transcription	Ovary	ovary
32	chr14:35426000-35442200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:35426000-35449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:35426000-35449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:35426000-35450000	Weak transcription	Lung	lung
36	chr14:35426000-35450200	Weak transcription	Aorta	Aorta
37	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:35426000-35450800	Weak transcription	Gastric	stomach
39	chr14:35426200-35449600	Weak transcription	Fetal Brain Female	brain
40	chr14:35426400-35441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:35427200-35449800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:35427400-35450000	Weak transcription	Fetal Kidney	kidney
43	chr14:35427400-35450000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:35430000-35450200	Weak transcription	Stomach Mucosa	stomach
45	chr14:35431600-35440600	Weak transcription	HSMM	muscle
46	chr14:35431800-35442400	Weak transcription	Fetal Intestine Small	intestine
47	chr14:35432600-35443600	Strong transcription	HepG2	liver
48	chr14:35435600-35449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:35435800-35440400	Weak transcription	HUVEC	blood vessel
50	chr14:35435800-35440800	Weak transcription	NH-A	brain

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