Variant report

Variant	rs329008
Chromosome Location	chr18:9551359-9551360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9551356-9551696	K562	blood:	n/a	n/a
2	USF1	chr18:9551254-9551464	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9550057..9552721-chr18:9560835..9563453,2	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 32 )
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[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329002	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329004	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329023	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs329024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35444634	0.89[ASN][1000 genomes]
rs407530	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]
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	1.00[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[CEU][hapmap];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:6 , 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	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	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
6	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	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:9543400-9552200	Strong transcription	Fetal Stomach	stomach
4	chr18:9544000-9552200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:9544000-9552400	Strong transcription	Fetal Intestine Small	intestine
6	chr18:9544000-9552600	Strong transcription	Brain Germinal Matrix	brain
7	chr18:9544000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
9	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:9544200-9552200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9544200-9553200	Strong transcription	Thymus	Thymus
12	chr18:9544200-9563600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:9544400-9551400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:9544400-9553800	Strong transcription	Spleen	Spleen
15	chr18:9544600-9552600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:9544600-9552600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:9544600-9552600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr18:9544600-9561600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr18:9544600-9563600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:9544600-9563600	Strong transcription	Brain Cingulate Gyrus	brain
21	chr18:9544600-9564200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:9544600-9564200	Strong transcription	Placenta	Placenta
23	chr18:9544800-9551400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:9544800-9552600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:9544800-9552800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:9544800-9556800	Strong transcription	HMEC	breast
27	chr18:9544800-9557000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:9544800-9562000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr18:9544800-9564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:9544800-9565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
33	chr18:9545000-9551600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:9545000-9552000	Strong transcription	Brain Anterior Caudate	brain
35	chr18:9545000-9552600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9545000-9552600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:9545000-9552600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:9545000-9552600	Strong transcription	Fetal Brain Female	brain
39	chr18:9545000-9552800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr18:9545000-9552800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr18:9545000-9554200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:9545000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:9545000-9557200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:9545000-9562600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:9545000-9563800	Strong transcription	Osteobl	bone
46	chr18:9545000-9564200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:9545000-9564200	Strong transcription	Adipose Nuclei	Adipose
48	chr18:9545000-9564400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:9545200-9552200	Strong transcription	Right Ventricle	heart
50	chr18:9545200-9552600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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