Variant report

Variant	rs3737054
Chromosome Location	chr10:27368325-27368326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10764678	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10764688	0.81[ASN][1000 genomes]
rs10829163	0.87[CEU][hapmap]
rs10829164	0.87[CEU][hapmap]
rs10829167	0.87[CEU][hapmap]
rs10829183	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10829191	0.88[CEU][hapmap]
rs10829192	0.88[CEU][hapmap]
rs10829194	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11015529	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11015530	0.86[AMR][1000 genomes]
rs11015532	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11015536	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11015541	0.87[ASN][1000 genomes]
rs11015548	0.81[AMR][1000 genomes]
rs11015553	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11015555	0.87[CEU][hapmap]
rs11015556	0.88[CEU][hapmap]
rs11015558	0.88[CEU][hapmap]
rs11015559	0.88[CEU][hapmap]
rs11015564	0.88[CEU][hapmap]
rs11015565	0.88[CEU][hapmap]
rs11015571	0.88[CEU][hapmap]
rs11015598	0.87[CEU][hapmap]
rs11015599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1144508	0.85[CHB][hapmap]
rs12255977	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12259472	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12572344	0.88[CEU][hapmap]
rs12762717	0.81[AMR][1000 genomes]
rs12766193	0.84[AMR][1000 genomes]
rs12768114	0.86[AMR][1000 genomes]
rs2026015	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2274634	0.88[CEU][hapmap];0.94[TSI][hapmap]
rs2274635	0.88[CEU][hapmap];0.94[TSI][hapmap]
rs2274741	0.87[CEU][hapmap]
rs2275752	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297145	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2297146	0.81[AMR][1000 genomes]
rs2297149	0.81[AMR][1000 genomes]
rs2297150	0.81[AMR][1000 genomes]
rs2368217	0.88[CEU][hapmap]
rs2800403	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs34111633	0.81[AMR][1000 genomes]
rs34283610	0.81[AMR][1000 genomes]
rs34601860	0.81[AMR][1000 genomes]
rs35175128	0.81[AMR][1000 genomes]
rs35251443	0.81[AMR][1000 genomes]
rs35671200	0.81[AMR][1000 genomes]
rs3780921	0.94[CEU][hapmap]
rs3780922	0.83[CEU][hapmap];0.91[TSI][hapmap]
rs3781100	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3904244	0.86[CEU][hapmap]
rs3932559	0.88[CEU][hapmap]
rs4747589	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs4749213	0.87[CEU][hapmap]
rs4749225	0.86[EUR][1000 genomes]
rs55955460	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6482603	0.81[ASN][1000 genomes]
rs66853312	0.81[AMR][1000 genomes]
rs67068137	0.81[AMR][1000 genomes]
rs67177346	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67629636	0.81[AMR][1000 genomes]
rs7073381	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7074295	0.81[ASN][1000 genomes]
rs7075448	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7080568	0.81[ASN][1000 genomes]
rs7083768	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7086311	0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7086820	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7088171	0.87[CEU][hapmap]
rs7907492	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7909135	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7909444	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7910396	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7910688	0.88[CEU][hapmap];0.94[TSI][hapmap]
rs7914630	0.88[CEU][hapmap]
rs7921222	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7922972	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs882475	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs9651377	0.83[YRI][hapmap]
rs9651378	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9971335	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894979	chr10:27325119-27375411	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3737054	MASTL	cis	lymphoblastoid	seeQTL
rs3737054	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs3737054	ACBD5	cis	cerebellum	SCAN
rs3737054	ANKRD26	cis	multi-tissue	Pritchard
rs3737054	ANKRD26	cis	parietal	SCAN
rs3737054	MASTL	cis	Thyroid	GTEx
rs3737054	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs3737054	RAB18	cis	parietal	SCAN
rs3737054	LINC00202-1	cis	Nerve Tibial	GTEx
rs3737054	MASTL	cis	cerebellum	SCAN
rs3737054	YME1L1	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27283200-27388400	Weak transcription	Psoas Muscle	Psoas
2	chr10:27291600-27388000	Weak transcription	Small Intestine	intestine
3	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27326800-27388200	Weak transcription	Brain Substantia Nigra	brain
9	chr10:27328000-27388200	Weak transcription	K562	blood
10	chr10:27330200-27381400	Weak transcription	HSMMtube	muscle
11	chr10:27333000-27384600	Weak transcription	Fetal Heart	heart
12	chr10:27341400-27376600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:27350200-27387800	Weak transcription	HMEC	breast
14	chr10:27358600-27388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:27360400-27368600	Strong transcription	Liver	Liver
16	chr10:27360400-27378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:27360400-27383800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:27360400-27384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:27360600-27370400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr10:27360600-27371600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:27360600-27372000	Strong transcription	Adipose Nuclei	Adipose
22	chr10:27360600-27384600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:27361000-27370000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:27361200-27368400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr10:27361200-27369000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:27361600-27388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:27362200-27373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:27362200-27388400	Weak transcription	Colonic Mucosa	Colon
29	chr10:27362400-27368400	Weak transcription	Lung	lung
30	chr10:27362400-27369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:27362400-27371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:27362400-27376200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:27362400-27377200	Weak transcription	Hela-S3	cervix
34	chr10:27362400-27388000	Weak transcription	Right Ventricle	heart
35	chr10:27362400-27388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:27362400-27388400	Weak transcription	Pancreas	Pancrea
37	chr10:27362600-27368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:27362600-27368400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:27362600-27369600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:27362600-27373200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:27362600-27376600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:27362600-27376600	Weak transcription	Ovary	ovary
43	chr10:27362600-27376600	Weak transcription	Thymus	Thymus
44	chr10:27362600-27376800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:27362600-27377600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:27362600-27377800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:27362600-27388400	Weak transcription	Esophagus	oesophagus
48	chr10:27362600-27388400	Weak transcription	Spleen	Spleen
49	chr10:27362600-27388800	Weak transcription	Gastric	stomach
50	chr10:27362800-27374200	Weak transcription	Brain Hippocampus Middle	brain

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