Variant report

Variant	rs1464277
Chromosome Location	chr8:120964825-120964826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10104948	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541789	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1554376	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2102905	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs35853291	0.93[ASN][1000 genomes]
rs4871814	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871815	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871816	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67498247	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825920	0.90[ASN][1000 genomes]
rs9987101	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9987104	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9987111	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1464277	DSCC1	cis	cerebellum	SCAN
rs1464277	MAL2	cis	cerebellum	SCAN
rs1464277	DSCC1	cis	parietal	SCAN
rs1464277	DEPDC6	cis	cerebellum	SCAN
rs1464277	ATAD2	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
2	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
3	chr8:120954200-120968000	Weak transcription	Stomach Mucosa	stomach
4	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
5	chr8:120959600-120968600	Weak transcription	Aorta	Aorta
6	chr8:120959800-120966400	Weak transcription	Ovary	ovary
7	chr8:120959800-120977400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:120960000-120968600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:120960400-120966400	Weak transcription	Gastric	stomach
10	chr8:120960400-120967800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:120960400-120968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:120960400-120968200	Weak transcription	Liver	Liver
13	chr8:120960400-120968200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:120960400-120968200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:120960400-120968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:120960600-120968200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:120960600-120968200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:120960600-120968400	Weak transcription	Brain Angular Gyrus	brain
19	chr8:120960600-120968600	Weak transcription	Fetal Intestine Large	intestine
20	chr8:120963200-120965000	Enhancers	Brain Substantia Nigra	brain
21	chr8:120963200-120965200	Enhancers	Psoas Muscle	Psoas
22	chr8:120963400-120965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:120963600-120965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:120963800-120965200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:120963800-120965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:120964000-120965200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:120964000-120965200	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:120964000-120966800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:120964000-120977400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:120964200-120965000	Enhancers	Left Ventricle	heart
31	chr8:120964200-120967600	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:120964200-120977400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:120964200-120977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:120964400-120965000	Genic enhancers	Fetal Muscle Leg	muscle
35	chr8:120964400-120965200	Enhancers	Adipose Nuclei	Adipose
36	chr8:120964400-120965400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:120964400-120966600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:120964400-120966600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:120964600-120965000	Enhancers	Lung	lung
40	chr8:120964600-120965000	Enhancers	Right Ventricle	heart
41	chr8:120964800-120965000	Enhancers	Pancreas	Pancrea
42	chr8:120964800-120968000	Weak transcription	Primary B cells from cord blood	blood
43	chr8:120964800-120968000	Weak transcription	GM12878-XiMat	blood
44	chr8:120964800-120968200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:120964800-120968200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:120964800-120968200	Weak transcription	Right Atrium	heart

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