Variant report

Variant	rs329004
Chromosome Location	chr18:9571977-9571978
allele	C/G
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	FOS	chr18:9571496-9572000	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr18:9571264-9572192	HUVEC	blood vessel:	n/a	chr18:9571310-9571320 chr18:9571305-9571321 chr18:9571947-9571958
3	POLR2A	chr18:9571490-9572075	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9570616..9572837-chr18:9581502..9583997,2	K562	blood:
2	chr18:9570568..9573033-chr18:9681202..9682731,2	K562	blood:
3	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
4	chr18:9571660..9575689-chr18:9612432..9614168,3	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11081489	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1662885	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1787165	0.81[ASN][1000 genomes]
rs1787166	0.89[ASN][1000 genomes]
rs2028661	1.00[ASN][1000 genomes]
rs2028662	1.00[ASN][1000 genomes]
rs2028663	1.00[ASN][1000 genomes]
rs2289684	1.00[ASN][1000 genomes]
rs2903504	0.84[EUR][1000 genomes]
rs328995	0.83[AFR][1000 genomes]
rs329002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329008	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs329023	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs329024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444634	1.00[ASN][1000 genomes]
rs407530	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs428598	1.00[ASN][1000 genomes]
rs583306	1.00[ASN][1000 genomes]
rs586544	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs589559	0.89[ASN][1000 genomes]
rs599861	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610564	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62088920	0.81[ASN][1000 genomes]
rs638578	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs667695	1.00[ASN][1000 genomes]
rs671339	1.00[ASN][1000 genomes]
rs677461	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680478	1.00[ASN][1000 genomes]
rs681297	1.00[ASN][1000 genomes]
rs683319	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs694861	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7233160	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234128	0.89[ASN][1000 genomes]
rs8088389	0.86[ASN][1000 genomes]
rs8090919	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9807577	0.90[ASN][1000 genomes]
rs9807604	1.00[ASN][1000 genomes]
rs9950583	0.89[ASN][1000 genomes]

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	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	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
3	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
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
4	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr18:9545800-9595200	Strong transcription	Dnd41	blood
7	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
8	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:9553000-9572400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr18:9553000-9573000	Strong transcription	Fetal Muscle Leg	muscle
11	chr18:9553000-9573600	Strong transcription	NHDF-Ad	bronchial
12	chr18:9553200-9572600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:9553800-9572800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:9553800-9573000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:9553800-9574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:9554000-9574000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:9554000-9574200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr18:9554000-9576000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:9557800-9575800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
27	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:9560200-9575200	Weak transcription	Stomach Mucosa	stomach
30	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:9561000-9575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:9562000-9574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
36	chr18:9563600-9574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr18:9563600-9577400	Weak transcription	Spleen	Spleen
38	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
40	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr18:9563800-9575400	Weak transcription	Brain Angular Gyrus	brain
42	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr18:9564800-9572000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:9565000-9572400	Strong transcription	Fetal Lung	lung
45	chr18:9565000-9575000	Strong transcription	Hela-S3	cervix
46	chr18:9565000-9576000	Weak transcription	Right Atrium	heart
47	chr18:9565000-9579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:9565200-9575800	Strong transcription	Osteobl	bone
49	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:9565600-9578000	Strong transcription	Placenta	Placenta

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