Variant report

Variant	rs8087770
Chromosome Location	chr18:7950773-7950774
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10153443	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12326176	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12326185	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12954431	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs12956961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12957388	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs12957993	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12959314	0.86[EUR][1000 genomes]
rs12960276	0.86[EUR][1000 genomes]
rs12963759	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12966777	0.86[EUR][1000 genomes]
rs12968232	0.85[EUR][1000 genomes]
rs13381485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952586	1.00[CHB][hapmap]
rs16952705	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs16952722	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs28434244	0.85[EUR][1000 genomes]
rs34017251	0.85[EUR][1000 genomes]
rs34046553	0.85[EUR][1000 genomes]
rs34049036	0.85[EUR][1000 genomes]
rs34296167	0.85[EUR][1000 genomes]
rs34554615	0.86[EUR][1000 genomes]
rs34580701	0.85[EUR][1000 genomes]
rs35308699	0.85[EUR][1000 genomes]
rs35434291	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35521625	0.86[EUR][1000 genomes]
rs35558945	0.86[EUR][1000 genomes]
rs35822807	0.86[EUR][1000 genomes]
rs35830277	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36093720	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239786	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7240582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7351012	0.82[YRI][hapmap]
rs8087884	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs8089133	0.85[EUR][1000 genomes]
rs8092781	0.86[EUR][1000 genomes]
rs9807495	0.81[EUR][1000 genomes]
rs9952741	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9956981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9961079	0.85[EUR][1000 genomes]
rs9966320	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8087770	BOK	trans	cerebellum	SCAN
rs8087770	ZFP161	cis	cerebellum	SCAN
rs8087770	ACCS	trans	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
4	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
9	chr18:7946800-7955000	Weak transcription	Fetal Lung	lung
10	chr18:7947000-7952400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr18:7947000-7954200	Weak transcription	Fetal Kidney	kidney
12	chr18:7947200-7950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:7947200-7955600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:7947200-7955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:7947200-7958200	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
17	chr18:7947400-7950800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:7947400-7955400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:7947400-7958200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:7947400-7958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:7947400-7959200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr18:7947400-7963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:7947400-7963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:7947400-7965600	Weak transcription	Thymus	Thymus
25	chr18:7947600-7955400	Weak transcription	Brain Angular Gyrus	brain
26	chr18:7947600-7956600	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:7947600-7958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:7947800-7950800	Weak transcription	Placenta	Placenta
29	chr18:7947800-7951400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:7947800-7954000	Weak transcription	NHLF	lung
31	chr18:7947800-7955200	Weak transcription	Right Atrium	heart
32	chr18:7947800-7955200	Weak transcription	Right Ventricle	heart
33	chr18:7947800-7957000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr18:7947800-7957400	Weak transcription	Spleen	Spleen
35	chr18:7947800-7958400	Weak transcription	Brain Anterior Caudate	brain
36	chr18:7947800-7958400	Weak transcription	Gastric	stomach
37	chr18:7947800-7958600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:7947800-7967600	Weak transcription	Primary T cells from cord blood	blood
39	chr18:7948000-7953000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:7948000-7953200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr18:7948000-7953200	Weak transcription	Small Intestine	intestine
42	chr18:7948000-7953600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:7948000-7955200	Weak transcription	Ovary	ovary
44	chr18:7948000-7955400	Weak transcription	Fetal Thymus	thymus
45	chr18:7948000-7956600	Weak transcription	Lung	lung
46	chr18:7948000-7957000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:7948000-7959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:7948000-7965800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:7948000-7967200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea

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