Variant report

Variant	rs8065443
Chromosome Location	chr17:38208940-38208941
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	chr17:38207226..38209173-chr17:38275974..38278338,2	K562	blood:
2	chr17:38174842..38178903-chr17:38208625..38211251,3	K562	blood:

Variant related genes	Relation type
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1042658	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1045929	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11078934	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.94[ASN][1000 genomes]
rs11871747	0.84[ASN][1000 genomes]
rs12950335	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227315	0.86[ASN][1000 genomes]
rs2227322	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2227336	0.86[ASN][1000 genomes]
rs3213762	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3884477	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935280	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3936197	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4794824	0.86[ASN][1000 genomes]
rs57065891	0.86[ASN][1000 genomes]
rs59925331	0.86[ASN][1000 genomes]
rs62065216	0.82[EUR][1000 genomes]
rs709591	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs709592	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7208815	0.84[ASN][1000 genomes]
rs7209755	0.86[ASN][1000 genomes]
rs7214085	0.86[ASN][1000 genomes]
rs7502514	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs7502912	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7503555	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066846	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078692	0.99[ASN][1000 genomes]
rs8078723	0.83[CHB][hapmap]
rs868150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303283	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8065443	MED24	cis	Nerve Tibial	GTEx
rs8065443	MED24	cis	Artery Tibial	GTEx
rs8065443	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8065443	GSDMA	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38186600-38209800	Weak transcription	Small Intestine	intestine
2	chr17:38188800-38209400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:38189600-38209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:38189600-38209600	Weak transcription	Psoas Muscle	Psoas
5	chr17:38190600-38209600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:38192000-38209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:38192200-38209400	Weak transcription	Fetal Brain Male	brain
8	chr17:38192200-38209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:38192400-38209600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:38192400-38209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:38192400-38209600	Weak transcription	Colonic Mucosa	Colon
12	chr17:38192400-38209800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:38192400-38210000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:38192600-38209400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:38192600-38209800	Weak transcription	Aorta	Aorta
16	chr17:38195400-38209600	Weak transcription	Pancreas	Pancrea
17	chr17:38195600-38209400	Weak transcription	Hela-S3	cervix
18	chr17:38195800-38209400	Weak transcription	Stomach Mucosa	stomach
19	chr17:38195800-38209600	Weak transcription	Fetal Heart	heart
20	chr17:38195800-38209800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:38196000-38209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:38196000-38209800	Weak transcription	HSMMtube	muscle
23	chr17:38197200-38209200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38197200-38209400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr17:38197400-38209200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:38197800-38209600	Strong transcription	Fetal Muscle Leg	muscle
27	chr17:38198600-38209400	Strong transcription	Fetal Stomach	stomach
28	chr17:38198800-38209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:38198800-38209400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:38198800-38209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:38199200-38209400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:38199200-38209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:38199600-38209400	Weak transcription	GM12878-XiMat	blood
34	chr17:38199800-38209600	Weak transcription	NHDF-Ad	bronchial
35	chr17:38199800-38209800	Weak transcription	Gastric	stomach
36	chr17:38201200-38209400	Strong transcription	Liver	Liver
37	chr17:38201400-38209400	Strong transcription	Fetal Thymus	thymus
38	chr17:38201400-38209600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:38201600-38209400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:38201800-38209600	Strong transcription	Fetal Intestine Large	intestine
41	chr17:38203000-38209000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:38203000-38209000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:38203000-38209200	Strong transcription	HepG2	liver
44	chr17:38203000-38209600	Strong transcription	Primary T cells from cord blood	blood
45	chr17:38203200-38209000	Strong transcription	Dnd41	blood
46	chr17:38203200-38209200	Strong transcription	Adipose Nuclei	Adipose
47	chr17:38204200-38209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:38204200-38209600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:38204200-38209600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr17:38204400-38209000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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