Variant report

Variant	rs8180457
Chromosome Location	chr5:107209814-107209815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10035487	0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs10067015	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10069370	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1054256	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1549925	0.89[ASN][1000 genomes]
rs2163794	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957727	0.86[CHB][hapmap];0.91[GIH][hapmap];0.84[AMR][1000 genomes]
rs9328022	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	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
rs8180457	WDR36	cis	cerebellum	SCAN
rs8180457	ART4	trans	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107189000-107212200	Weak transcription	Fetal Brain Male	brain
2	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:107195400-107211600	Weak transcription	Aorta	Aorta
5	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
11	chr5:107195800-107214400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:107195800-107218200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:107196000-107210800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:107196800-107223200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:107197600-107215400	Weak transcription	Ovary	ovary
16	chr5:107197800-107210400	Weak transcription	Primary T cells from cord blood	blood
17	chr5:107197800-107215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:107197800-107215800	Weak transcription	Lung	lung
19	chr5:107197800-107219000	Weak transcription	Gastric	stomach
20	chr5:107197800-107228800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:107198000-107223000	Weak transcription	Adipose Nuclei	Adipose
22	chr5:107198600-107211400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:107202800-107215800	Weak transcription	Fetal Intestine Large	intestine
24	chr5:107203600-107218800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:107205000-107211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:107205000-107212600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:107205000-107214400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:107205400-107212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:107205400-107217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:107205400-107217400	Weak transcription	Fetal Stomach	stomach
31	chr5:107205600-107210600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:107205600-107211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:107205600-107214400	Weak transcription	Brain Anterior Caudate	brain
34	chr5:107205800-107210600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:107205800-107211400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:107205800-107230000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:107206000-107210400	Weak transcription	Osteobl	bone
38	chr5:107206000-107210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:107206000-107211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:107206000-107211800	Weak transcription	HSMM	muscle
41	chr5:107206200-107210400	Weak transcription	NHLF	lung
42	chr5:107206200-107210600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:107206200-107221800	Weak transcription	HUVEC	blood vessel
44	chr5:107207400-107211000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:107207400-107213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:107207600-107211200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr5:107208200-107212400	Enhancers	NHDF-Ad	bronchial
48	chr5:107208400-107213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:107209000-107210000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:107209200-107210200	Enhancers	Liver	Liver

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