Variant report

Variant	rs329003
Chromosome Location	chr18:9570320-9570321
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	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs172931	1.00[AFR][1000 genomes]
rs17508949	1.00[ASW][hapmap]
rs328998	1.00[AFR][1000 genomes]
rs329024	1.00[ASW][hapmap]
rs56376849	1.00[AFR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs329003	SPIRE1	cis	cerebellum	SCAN
rs329003	FAM38B	cis	cerebellum	SCAN

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	chr18:9558400-9570600	Strong transcription	HUVEC	blood vessel
27	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
28	chr18:9559600-9571600	Weak transcription	Fetal Brain Male	brain
29	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr18:9560200-9575200	Weak transcription	Stomach Mucosa	stomach
32	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:9561000-9575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:9562000-9574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
38	chr18:9563400-9571400	Weak transcription	Fetal Kidney	kidney
39	chr18:9563600-9571200	Weak transcription	Fetal Heart	heart
40	chr18:9563600-9574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr18:9563600-9577400	Weak transcription	Spleen	Spleen
42	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
44	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr18:9563800-9575400	Weak transcription	Brain Angular Gyrus	brain
46	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr18:9564800-9572000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:9565000-9572400	Strong transcription	Fetal Lung	lung
49	chr18:9565000-9575000	Strong transcription	Hela-S3	cervix
50	chr18:9565000-9576000	Weak transcription	Right Atrium	heart

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