Variant report

Variant	rs17667932
Chromosome Location	chr8:118549376-118549377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118535666..118538173-chr8:118549096..118551270,2	K562	blood:
2	chr8:118540222..118542187-chr8:118547991..118550009,2	K562	blood:

Variant related genes	Relation type
ENSG00000239917	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17667990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1844320	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56338103	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62521192	0.90[ASN][1000 genomes]
rs62521196	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62521197	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62521201	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62521202	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62521204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521205	0.86[ASN][1000 genomes]
rs6993408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672126	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672138	0.92[AMR][1000 genomes]
rs72672139	0.92[AMR][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Kawasaki disease	22446961	GWAS catalog

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118533800-118553800	Weak transcription	Stomach Mucosa	stomach
2	chr8:118534400-118557600	Weak transcription	Fetal Brain Male	brain
3	chr8:118535200-118550400	Weak transcription	K562	blood
4	chr8:118542000-118558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:118544400-118549600	Weak transcription	Hela-S3	cervix
6	chr8:118544600-118549600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:118546600-118549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:118546600-118549600	Weak transcription	Gastric	stomach
9	chr8:118546600-118549800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:118546600-118550400	Weak transcription	Fetal Kidney	kidney
11	chr8:118546600-118550800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:118546600-118551200	Weak transcription	Colonic Mucosa	Colon
13	chr8:118546600-118551600	Weak transcription	NHDF-Ad	bronchial
14	chr8:118546600-118552400	Weak transcription	Psoas Muscle	Psoas
15	chr8:118546600-118552600	Weak transcription	HSMMtube	muscle
16	chr8:118546600-118552800	Weak transcription	Small Intestine	intestine
17	chr8:118546600-118553000	Weak transcription	Right Ventricle	heart
18	chr8:118546600-118553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:118546600-118553400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:118546600-118553400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:118546600-118553400	Weak transcription	HUVEC	blood vessel
22	chr8:118546600-118553800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:118546600-118554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:118546600-118554000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:118546600-118554200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:118546600-118554400	Weak transcription	Left Ventricle	heart
27	chr8:118546600-118554600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:118546600-118554600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:118546600-118554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:118546600-118554800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:118546600-118554800	Weak transcription	Pancreas	Pancrea
32	chr8:118546600-118555000	Weak transcription	Fetal Thymus	thymus
33	chr8:118546600-118555000	Weak transcription	Thymus	Thymus
34	chr8:118546600-118555000	Weak transcription	NHLF	lung
35	chr8:118546600-118555200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:118546600-118555200	Weak transcription	Fetal Stomach	stomach
37	chr8:118546600-118555200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:118546600-118555800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:118546600-118555800	Weak transcription	Lung	lung
40	chr8:118546600-118556000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:118546600-118556000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:118546600-118557200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:118546600-118557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:118546600-118557600	Weak transcription	Fetal Intestine Large	intestine
45	chr8:118546600-118558000	Weak transcription	Esophagus	oesophagus
46	chr8:118546600-118558000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:118546600-118558200	Weak transcription	Fetal Intestine Small	intestine
48	chr8:118546600-118558200	Weak transcription	Spleen	Spleen
49	chr8:118546600-118558400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:118546600-118558600	Weak transcription	Primary B cells from cord blood	blood

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