Variant report

Variant	rs407530
Chromosome Location	chr18:9553481-9553482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1787166	1.00[CHB][hapmap]
rs2028661	0.89[ASN][1000 genomes]
rs2028662	0.89[ASN][1000 genomes]
rs2028663	0.89[ASN][1000 genomes]
rs2289684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs328995	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329002	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329004	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329023	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs329024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35444634	0.89[ASN][1000 genomes]
rs428598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs583306	0.89[ASN][1000 genomes]
rs589559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs599861	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs633907	0.85[CHB][hapmap]
rs667695	0.89[ASN][1000 genomes]
rs671339	0.89[ASN][1000 genomes]
rs680478	0.89[ASN][1000 genomes]
rs681297	0.89[ASN][1000 genomes]
rs694861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7233160	0.89[ASN][1000 genomes]
rs9807577	0.81[ASN][1000 genomes]
rs9807604	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:9544000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
4	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:9544200-9563600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:9544400-9553800	Strong transcription	Spleen	Spleen
7	chr18:9544600-9561600	Strong transcription	Stomach Smooth Muscle	stomach
8	chr18:9544600-9563600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:9544600-9563600	Strong transcription	Brain Cingulate Gyrus	brain
10	chr18:9544600-9564200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9544600-9564200	Strong transcription	Placenta	Placenta
12	chr18:9544800-9556800	Strong transcription	HMEC	breast
13	chr18:9544800-9557000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:9544800-9562000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:9544800-9564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:9544800-9565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
19	chr18:9545000-9554200	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:9545000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:9545000-9557200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:9545000-9562600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr18:9545000-9563800	Strong transcription	Osteobl	bone
24	chr18:9545000-9564200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:9545000-9564200	Strong transcription	Adipose Nuclei	Adipose
26	chr18:9545000-9564400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:9545200-9560400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:9545200-9561400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr18:9545200-9561600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr18:9545200-9563400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr18:9545400-9560000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr18:9545400-9564000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:9545600-9554000	Strong transcription	NHLF	lung
35	chr18:9545800-9556200	Strong transcription	HepG2	liver
36	chr18:9545800-9563600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr18:9545800-9564200	Strong transcription	Fetal Thymus	thymus
38	chr18:9545800-9565000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:9545800-9570200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr18:9545800-9595200	Strong transcription	Dnd41	blood
42	chr18:9546000-9555200	Strong transcription	Ovary	ovary
43	chr18:9546000-9557200	Strong transcription	NHEK	skin
44	chr18:9546000-9563800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr18:9546200-9557600	Strong transcription	HUVEC	blood vessel
46	chr18:9546200-9557800	Strong transcription	Brain Substantia Nigra	brain
47	chr18:9546200-9559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr18:9546200-9560200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:9546200-9564200	Strong transcription	Left Ventricle	heart
50	chr18:9546400-9554800	Strong transcription	Brain Inferior Temporal Lobe	brain

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