Variant report

Variant	rs8036527
Chromosome Location	chr15:41764522-41764523
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	chr15:41762256..41765173-chr15:41766010..41768467,3	K562	blood:
2	chr15:41760491..41765173-chr15:41766010..41771249,5	K562	blood:

Variant related genes	Relation type
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10152497	0.81[ASN][1000 genomes]
rs10153010	0.81[ASN][1000 genomes]
rs11630191	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11631770	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1622914	0.82[EUR][1000 genomes]
rs1655556	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1655557	0.85[EUR][1000 genomes]
rs16971798	0.82[ASN][1000 genomes]
rs16971806	0.86[ASN][1000 genomes]
rs16971832	0.95[ASN][1000 genomes]
rs16971834	0.93[ASN][1000 genomes]
rs1757455	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2777491	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28393472	0.81[ASN][1000 genomes]
rs28600680	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28655070	0.88[ASN][1000 genomes]
rs28716108	0.81[ASN][1000 genomes]
rs28792672	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28847691	0.91[ASN][1000 genomes]
rs316605	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316609	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316610	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316613	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316614	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316615	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316617	0.84[EUR][1000 genomes]
rs35826725	0.87[ASN][1000 genomes]
rs3743038	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59590312	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66538814	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7163788	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7167729	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168177	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172148	0.87[ASN][1000 genomes]
rs7177641	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7180492	0.96[ASN][1000 genomes]
rs7181911	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7182667	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7182700	0.88[EUR][1000 genomes]
rs73404994	0.81[ASN][1000 genomes]
rs73404995	0.81[ASN][1000 genomes]
rs73404996	0.81[ASN][1000 genomes]
rs73407109	0.81[ASN][1000 genomes]
rs8026197	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8027626	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8034819	0.84[ASN][1000 genomes]
rs8037824	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs823716	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs919961	0.82[ASN][1000 genomes]
rs9972288	0.84[EUR][1000 genomes];0.82[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	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
2	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs8036527	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs8036527	OIP5-AS1	cis	Nerve Tibial	GTEx
rs8036527	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8036527	OIP5-AS1	cis	Esophagus Muscularis	GTEx
rs8036527	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8036527	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8036527	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8036527	OIP5-AS1	cis	Artery Tibial	GTEx
rs8036527	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8036527	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8036527	NDUFAF1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41719000-41765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:41722000-41768400	Weak transcription	Small Intestine	intestine
3	chr15:41724200-41777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41729200-41773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:41730000-41768400	Weak transcription	Psoas Muscle	Psoas
6	chr15:41730800-41769000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:41744000-41771800	Strong transcription	Fetal Intestine Small	intestine
8	chr15:41744200-41767400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:41745200-41766800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:41745200-41775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:41750600-41766200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:41750800-41767000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:41753000-41775000	Strong transcription	Fetal Stomach	stomach
14	chr15:41753800-41776800	Strong transcription	Fetal Muscle Leg	muscle
15	chr15:41754000-41764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:41754000-41774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:41754200-41775200	Strong transcription	Primary T cells from cord blood	blood
18	chr15:41754200-41776000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:41754400-41774600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:41754400-41775000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:41754400-41776800	Strong transcription	Placenta	Placenta
22	chr15:41754600-41766800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:41755000-41769400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41755000-41775600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr15:41755400-41775200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:41756800-41769000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:41756800-41776200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:41757000-41764800	Strong transcription	Liver	Liver
29	chr15:41757000-41769000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:41757000-41774200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:41757000-41776200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:41757000-41776400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:41757200-41774400	Strong transcription	Fetal Brain Female	brain
34	chr15:41757200-41774600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:41757200-41775400	Strong transcription	Fetal Thymus	thymus
36	chr15:41757400-41774000	Strong transcription	Spleen	Spleen
37	chr15:41757400-41774200	Strong transcription	Thymus	Thymus
38	chr15:41757400-41776800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:41758200-41768400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:41758400-41766600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:41758400-41774000	Strong transcription	Lung	lung
42	chr15:41759000-41772400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:41759000-41774400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:41759000-41775000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:41759200-41771400	Weak transcription	Fetal Heart	heart
46	chr15:41759600-41767600	Weak transcription	Gastric	stomach
47	chr15:41760600-41768400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:41760600-41774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:41760600-41774400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr15:41760800-41773800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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