Variant report

Variant	rs4747583
Chromosome Location	chr10:27344697-27344698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10443967	0.88[ASN][1000 genomes]
rs10764670	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10829158	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10829170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10829171	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10829178	0.90[ASN][1000 genomes]
rs11015445	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11015448	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs11015459	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes]
rs11015462	0.82[AMR][1000 genomes]
rs11015465	0.91[AMR][1000 genomes]
rs11015466	0.91[AMR][1000 genomes]
rs11015468	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11015470	0.82[AFR][1000 genomes]
rs11015471	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11015474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015476	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11015477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015478	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11015482	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015483	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015487	0.81[EUR][1000 genomes]
rs11015490	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015491	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015492	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015493	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015494	0.82[AMR][1000 genomes]
rs11015495	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015496	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11015497	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015498	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015499	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015500	0.84[EUR][1000 genomes]
rs11015501	0.82[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015502	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015508	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11015603	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12354715	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12354840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12354861	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12354955	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12355227	0.91[AMR][1000 genomes]
rs12356360	1.00[CEU][hapmap]
rs12357873	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12358854	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12569476	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1854646	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2149941	0.83[ASN][1000 genomes]
rs2274742	1.00[CEU][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs3781098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4749220	0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56907673	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60521923	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6482590	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7080104	0.89[ASW][hapmap];1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7083360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7083739	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7900343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7907257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7922043	0.90[ASN][1000 genomes]
rs9731878	0.82[AMR][1000 genomes];0.84[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4747583	MASTL	cis	lymphoblastoid	seeQTL
rs4747583	YME1L1	Cis_1M	lymphoblastoid	RTeQTL
rs4747583	MASTL	cis	lung	GTEx
rs4747583	MASTL	cis	Thyroid	GTEx

Chromatin state (count:118 , 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	chr10:27287000-27350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:27287800-27350600	Weak transcription	Aorta	Aorta
4	chr10:27288800-27357000	Weak transcription	Gastric	stomach
5	chr10:27289200-27361200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:27289600-27360800	Weak transcription	Hela-S3	cervix
7	chr10:27289800-27360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:27290200-27351400	Weak transcription	Thymus	Thymus
9	chr10:27290200-27361400	Weak transcription	Placenta	Placenta
10	chr10:27291400-27360600	Weak transcription	Lung	lung
11	chr10:27291600-27351000	Weak transcription	NHLF	lung
12	chr10:27291600-27388000	Weak transcription	Small Intestine	intestine
13	chr10:27292000-27362200	Weak transcription	Fetal Brain Male	brain
14	chr10:27295600-27345800	Weak transcription	Brain Angular Gyrus	brain
15	chr10:27303600-27361000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:27306000-27360800	Weak transcription	Esophagus	oesophagus
17	chr10:27312800-27358200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:27313200-27363400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:27317400-27351800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:27318200-27357400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:27318400-27350600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr10:27319000-27351200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:27319000-27360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:27319600-27347800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:27323600-27361800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:27324200-27352600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:27324800-27350600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:27326400-27360600	Weak transcription	Spleen	Spleen
34	chr10:27326600-27366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:27326800-27349800	Weak transcription	HepG2	liver
36	chr10:27326800-27388200	Weak transcription	Brain Substantia Nigra	brain
37	chr10:27327400-27348000	Weak transcription	Fetal Lung	lung
38	chr10:27327600-27360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:27328000-27348400	Weak transcription	Right Ventricle	heart
40	chr10:27328000-27388200	Weak transcription	K562	blood
41	chr10:27329600-27349800	Weak transcription	HSMM	muscle
42	chr10:27329800-27352000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:27329800-27360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr10:27330200-27381400	Weak transcription	HSMMtube	muscle
45	chr10:27330400-27360400	Weak transcription	NHEK	skin
46	chr10:27330400-27360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:27330600-27360800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr10:27331200-27348000	Weak transcription	Brain Germinal Matrix	brain
49	chr10:27331200-27351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:27331200-27356800	Weak transcription	Primary B cells from cord blood	blood

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