Variant report

Variant	rs329002
Chromosome Location	chr18:9569365-9569366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9561179..9565835-chr18:9565855..9569697,6	K562	blood:
2	chr18:9561179..9565835-chr18:9565855..9569697,5	K562	blood:

Variant related genes	Relation type
ENSG00000154845	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	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1662885	0.94[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	0.82[EUR][1000 genomes]
rs328995	0.83[AFR][1000 genomes]
rs329004	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];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs329024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	0.92[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610564	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62088920	0.81[ASN][1000 genomes]
rs638578	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs667695	1.00[ASN][1000 genomes]
rs671339	1.00[ASN][1000 genomes]
rs677461	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680478	1.00[ASN][1000 genomes]
rs681297	1.00[ASN][1000 genomes]
rs683319	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs694861	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7233160	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234128	0.89[ASN][1000 genomes]
rs8088389	0.86[ASN][1000 genomes]
rs8090919	0.92[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	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
2	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
5	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr18:9545800-9570200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr18:9545800-9595200	Strong transcription	Dnd41	blood
9	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
10	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:9553000-9572400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr18:9553000-9573000	Strong transcription	Fetal Muscle Leg	muscle
13	chr18:9553000-9573600	Strong transcription	NHDF-Ad	bronchial
14	chr18:9553200-9572600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:9553800-9572800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:9553800-9573000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:9553800-9574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:9554000-9574000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:9554000-9574200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:9554000-9576000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:9557800-9575800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9558400-9570600	Strong transcription	HUVEC	blood vessel
29	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
30	chr18:9559600-9570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr18:9559600-9570200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:9559600-9571600	Weak transcription	Fetal Brain Male	brain
33	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr18:9559800-9569400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:9560200-9575200	Weak transcription	Stomach Mucosa	stomach
37	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:9561000-9575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:9562000-9574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:9563000-9569800	Weak transcription	Pancreas	Pancrea
42	chr18:9563000-9570200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
45	chr18:9563400-9571400	Weak transcription	Fetal Kidney	kidney
46	chr18:9563600-9569600	Weak transcription	Brain Anterior Caudate	brain
47	chr18:9563600-9569600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:9563600-9569800	Weak transcription	Esophagus	oesophagus
49	chr18:9563600-9569800	Weak transcription	Thymus	Thymus
50	chr18:9563600-9570200	Weak transcription	Brain Germinal Matrix	brain

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