Variant report

Variant	rs8081692
Chromosome Location	chr17:38154595-38154596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38139073..38144871-chr17:38149897..38154984,7	K562	blood:
2	chr17:38152599..38155402-chr17:38158806..38161805,3	K562	blood:
3	chr17:38152976..38154813-chr17:38189662..38192619,2	K562	blood:
4	chr17:38148349..38150160-chr17:38151852..38154932,3	K562	blood:

Variant related genes	Relation type
ENSG00000108344	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1042658	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1045929	0.90[EUR][1000 genomes]
rs11078934	0.86[EUR][1000 genomes]
rs11871747	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12600856	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12602172	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12941811	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227315	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227322	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227336	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213762	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3826331	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3907022	0.81[ASN][1000 genomes]
rs3935280	0.85[EUR][1000 genomes]
rs4794822	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4794823	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794824	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4795412	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4795414	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4795415	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795416	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795418	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795419	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795420	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55771023	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55846942	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56922390	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57065891	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57968500	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59925331	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60082402	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60134943	0.81[ASN][1000 genomes]
rs62065177	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6503530	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7021	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709591	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs709592	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7208815	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7209755	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7214085	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7221894	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7222039	0.93[ASN][1000 genomes]
rs7502514	0.86[EUR][1000 genomes]
rs8065519	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8067817	0.93[ASN][1000 genomes]
rs8068260	0.88[ASN][1000 genomes]
rs8070454	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8072548	0.93[ASN][1000 genomes]
rs8078723	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv908220	chr17:38153473-38175426	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8081692	MED24	cis	Artery Aorta	GTEx
rs8081692	GSDMA	cis	Nerve Tibial	GTEx
rs8081692	GSDMA	cis	Artery Aorta	GTEx
rs8081692	GSDMA	cis	Adipose Subcutaneous	GTEx
rs8081692	GSDMA	cis	Esophagus Muscularis	GTEx
rs8081692	MED24	cis	Artery Tibial	GTEx
rs8081692	GSDMA	cis	lung	GTEx
rs8081692	MED24	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38139200-38154800	Strong transcription	Fetal Intestine Small	intestine
2	chr17:38139400-38155000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:38139600-38154600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:38139600-38154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:38139600-38155000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:38139600-38155200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:38139600-38155400	Strong transcription	Placenta	Placenta
8	chr17:38139600-38155600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:38139600-38155600	Strong transcription	Fetal Thymus	thymus
10	chr17:38139800-38154600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:38139800-38154600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:38139800-38154800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr17:38139800-38155000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:38139800-38155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:38139800-38155000	Strong transcription	A549	lung
16	chr17:38139800-38155600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:38140000-38154600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:38140000-38154600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr17:38140000-38154600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:38140000-38154600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:38140000-38154600	Strong transcription	Brain Hippocampus Middle	brain
22	chr17:38140000-38154600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr17:38140000-38154600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:38140000-38154600	Strong transcription	Fetal Intestine Large	intestine
25	chr17:38140000-38155000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:38140000-38155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:38140000-38155000	Strong transcription	Rectal Smooth Muscle	rectum
28	chr17:38140000-38155000	Strong transcription	HSMM	muscle
29	chr17:38140000-38155200	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr17:38140000-38155800	Strong transcription	Fetal Stomach	stomach
31	chr17:38140200-38155000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:38140400-38154800	Strong transcription	Thymus	Thymus
33	chr17:38140400-38155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:38140400-38155000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:38140400-38155000	Strong transcription	Colon Smooth Muscle	Colon
36	chr17:38140400-38155000	Strong transcription	GM12878-XiMat	blood
37	chr17:38140400-38155600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr17:38140600-38154600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:38140600-38154600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:38140600-38154600	Strong transcription	Gastric	stomach
41	chr17:38140600-38154600	Strong transcription	Left Ventricle	heart
42	chr17:38140600-38154800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:38140600-38155000	Strong transcription	Primary T cells from cord blood	blood
44	chr17:38140600-38155000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:38140600-38155000	Strong transcription	Brain Angular Gyrus	brain
46	chr17:38140600-38155000	Strong transcription	Brain Anterior Caudate	brain
47	chr17:38140600-38155000	Strong transcription	Fetal Brain Female	brain
48	chr17:38140600-38155000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:38140600-38155200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:38140600-38155400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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