Variant report

Variant	rs10748569
Chromosome Location	chr10:93561807-93561808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93560321..93562370-chr10:93666331..93669192,2	K562	blood:
2	chr10:93559992..93564256-chr10:93566335..93570141,4	K562	blood:
3	chr10:93560760..93562568-chr10:93567325..93569560,2	K562	blood:
4	chr10:93559267..93561929-chr10:93568041..93570595,2	MCF-7	breast:
5	chr10:93561483..93563173-chr10:93576310..93578426,2	K562	blood:
6	chr10:93560294..93562009-chr10:93682715..93684727,2	MCF-7	breast:
7	chr10:93558185..93560569-chr10:93560780..93564031,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095564	Chromatin interaction
ENSG00000272817	Chromatin interaction
ENSG00000180581	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10736064	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10748568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786011	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10786013	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10786015	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10786018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881959	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10881968	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11186695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186726	0.80[AMR][1000 genomes]
rs11186731	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11814405	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12248932	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12573311	0.84[ASN][1000 genomes]
rs1340420	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1539041	1.00[ASN][1000 genomes]
rs1572933	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1572934	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1770467	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1770470	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1770472	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1770475	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1772180	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1772185	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1935030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935031	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2066276	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259280	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2487513	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2487514	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2994394	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3930831	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4403720	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6583787	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073486	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7077236	0.89[EUR][1000 genomes]
rs7085519	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7897784	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7911346	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918126	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs946896	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs10748569	PPP1R3C	cis	Esophagus Mucosa	GTEx
rs10748569	TNKS2-AS1	cis	Artery Aorta	GTEx
rs10748569	TNKS2-AS1	cis	Artery Tibial	GTEx
rs10748569	TNKS2-AS1	cis	Nerve Tibial	GTEx
rs10748569	TNKS2-AS1	cis	Esophagus Muscularis	GTEx
rs10748569	TNKS2-AS1	cis	Thyroid	GTEx
rs10748569	TNKS2-AS1	cis	Muscle Skeletal	GTEx
rs10748569	TNKS2-AS1	cis	Heart Left Ventricle	GTEx
rs10748569	TNKS2-AS1	cis	Stomach	GTEx
rs10748569	TNKS2-AS1	cis	Esophagus Mucosa	GTEx
rs10748569	TNKS2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10748569	TNKS2-AS1	cis	Adipose Subcutaneous	GTEx
rs10748569	TNKS2-AS1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93556200-93562000	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr10:93558800-93563200	Weak transcription	Spleen	Spleen
3	chr10:93559000-93580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:93559400-93562600	Weak transcription	Small Intestine	intestine
5	chr10:93559400-93562800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:93559400-93562800	Weak transcription	Pancreas	Pancrea
7	chr10:93559400-93563000	Weak transcription	Gastric	stomach
8	chr10:93559400-93572800	Weak transcription	Lung	lung
9	chr10:93559400-93573200	Weak transcription	Esophagus	oesophagus
10	chr10:93559600-93572400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:93559600-93578800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:93559600-93599200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:93560200-93562400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:93560200-93563400	Weak transcription	Aorta	Aorta
15	chr10:93560200-93563400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:93560200-93565000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:93560200-93565000	Weak transcription	Right Ventricle	heart
18	chr10:93560200-93567200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:93560200-93572800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:93560200-93572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:93560200-93577600	Weak transcription	Colonic Mucosa	Colon
22	chr10:93560200-93589400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:93560400-93562000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:93560400-93562000	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:93560400-93562200	Enhancers	Liver	Liver
26	chr10:93560400-93562200	Weak transcription	HSMM	muscle
27	chr10:93560400-93562800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:93560400-93562800	Weak transcription	Brain Germinal Matrix	brain
29	chr10:93560400-93563400	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:93560400-93564400	Weak transcription	GM12878-XiMat	blood
31	chr10:93560400-93564800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:93560400-93565000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:93560400-93565800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:93560400-93572600	Weak transcription	NH-A	brain
35	chr10:93560400-93572800	Weak transcription	A549	lung
36	chr10:93560400-93573200	Weak transcription	HSMMtube	muscle
37	chr10:93560400-93574400	Weak transcription	NHLF	lung
38	chr10:93560400-93577000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr10:93560600-93562200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr10:93560600-93562200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:93560600-93562800	Genic enhancers	Fetal Heart	heart
42	chr10:93560600-93563000	Weak transcription	Fetal Intestine Small	intestine
43	chr10:93560600-93563600	Weak transcription	Stomach Mucosa	stomach
44	chr10:93560600-93564000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:93560600-93564400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:93560600-93565200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:93560600-93568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:93560800-93562000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:93560800-93562000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:93560800-93562200	Weak transcription	Right Atrium	heart

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