Variant report

Variant	rs12359281
Chromosome Location	chr10:27353007-27353008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27348919..27351268-chr10:27352657..27355523,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1002351	0.84[JPT][hapmap]
rs10159601	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10443968	0.89[EUR][1000 genomes]
rs10764682	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10764687	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs10829175	0.92[ASN][1000 genomes]
rs10829177	0.92[ASN][1000 genomes]
rs10829179	0.92[ASN][1000 genomes]
rs10829182	0.92[ASN][1000 genomes]
rs10829187	0.82[ASN][1000 genomes]
rs10829189	0.82[ASN][1000 genomes]
rs10829209	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs11015444	0.95[ASN][1000 genomes]
rs11015448	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11015459	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11015462	0.98[ASN][1000 genomes]
rs11015465	0.98[ASN][1000 genomes]
rs11015466	0.98[ASN][1000 genomes]
rs11015470	0.98[ASN][1000 genomes]
rs11015471	0.98[ASN][1000 genomes]
rs11015476	0.98[ASN][1000 genomes]
rs11015478	0.98[ASN][1000 genomes]
rs11015479	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015483	0.98[ASN][1000 genomes]
rs11015490	0.93[ASN][1000 genomes]
rs11015491	0.98[ASN][1000 genomes]
rs11015492	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11015493	0.98[ASN][1000 genomes]
rs11015494	0.98[ASN][1000 genomes]
rs11015495	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11015496	0.98[ASN][1000 genomes]
rs11015497	0.98[ASN][1000 genomes]
rs11015498	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11015499	0.98[ASN][1000 genomes]
rs11015500	0.98[ASN][1000 genomes]
rs11015501	0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs11015502	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11015507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11015516	0.89[EUR][1000 genomes]
rs11015520	0.89[EUR][1000 genomes]
rs11015521	0.89[EUR][1000 genomes]
rs11015524	0.92[ASN][1000 genomes]
rs11015534	0.89[EUR][1000 genomes]
rs11015537	0.89[EUR][1000 genomes]
rs11015574	1.00[CEU][hapmap]
rs11015582	1.00[CEU][hapmap]
rs11015587	1.00[CEU][hapmap]
rs11015602	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs11015612	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs11015614	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs11015615	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs11813101	0.90[CHB][hapmap]
rs11816764	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs11816767	0.88[CHB][hapmap]
rs11819631	0.92[ASN][1000 genomes]
rs12240963	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12243607	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12244182	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12250059	0.92[ASN][1000 genomes]
rs12251316	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12257786	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12259138	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12259499	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12263872	0.92[ASN][1000 genomes]
rs12266594	0.92[ASN][1000 genomes]
rs12354715	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12355227	0.95[ASN][1000 genomes]
rs12355949	0.95[ASN][1000 genomes]
rs12356269	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12357873	0.97[ASN][1000 genomes]
rs12358854	0.98[ASN][1000 genomes]
rs1557163	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1557164	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1557166	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2274742	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2275751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2297148	0.92[ASN][1000 genomes]
rs28477279	0.95[AFR][1000 genomes]
rs3780923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3781097	0.95[ASN][1000 genomes]
rs3818962	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3818968	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3824692	1.00[ASN][1000 genomes]
rs4747582	1.00[ASN][1000 genomes]
rs4749220	0.88[CHB][hapmap];0.84[JPT][hapmap];0.98[ASN][1000 genomes]
rs61081993	0.95[ASN][1000 genomes]
rs61216393	0.97[ASN][1000 genomes]
rs6482590	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6482612	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7068463	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7069127	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7069761	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7072412	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7080104	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7083360	0.98[ASN][1000 genomes]
rs7083739	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7084515	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7086946	0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7087198	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7096070	0.95[ASN][1000 genomes]
rs7358044	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs7358057	0.86[JPT][hapmap]
rs7897698	0.92[ASN][1000 genomes]
rs7900802	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7902900	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7906528	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7909359	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7910142	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs9651377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9731439	0.84[YRI][hapmap]
rs9731878	0.95[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12359281	MASTL	cis	lymphoblastoid	seeQTL
rs12359281	YME1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr10:27288800-27357000	Weak transcription	Gastric	stomach
3	chr10:27289200-27361200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:27289600-27360800	Weak transcription	Hela-S3	cervix
5	chr10:27289800-27360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:27290200-27361400	Weak transcription	Placenta	Placenta
7	chr10:27291400-27360600	Weak transcription	Lung	lung
8	chr10:27291600-27388000	Weak transcription	Small Intestine	intestine
9	chr10:27292000-27362200	Weak transcription	Fetal Brain Male	brain
10	chr10:27303600-27361000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:27306000-27360800	Weak transcription	Esophagus	oesophagus
12	chr10:27312800-27358200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:27313200-27363400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:27313200-27388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:27313200-27388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:27313400-27388400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:27314600-27388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:27318200-27357400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:27319000-27360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:27323400-27388600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:27323600-27361800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:27326400-27360600	Weak transcription	Spleen	Spleen
23	chr10:27326600-27366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:27326800-27388200	Weak transcription	Brain Substantia Nigra	brain
25	chr10:27327600-27360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:27328000-27388200	Weak transcription	K562	blood
27	chr10:27329800-27360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:27330200-27381400	Weak transcription	HSMMtube	muscle
29	chr10:27330400-27360400	Weak transcription	NHEK	skin
30	chr10:27330400-27360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:27330600-27360800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:27331200-27356800	Weak transcription	Primary B cells from cord blood	blood
33	chr10:27331400-27360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:27331600-27355800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:27331800-27360600	Weak transcription	Pancreas	Pancrea
36	chr10:27332600-27360800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:27333000-27360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:27333000-27384600	Weak transcription	Fetal Heart	heart
39	chr10:27336200-27360600	Weak transcription	Colon Smooth Muscle	Colon
40	chr10:27338800-27357000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr10:27341000-27363400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:27341200-27365600	Weak transcription	HUVEC	blood vessel
43	chr10:27341400-27376600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:27341800-27356200	Weak transcription	A549	lung
45	chr10:27342000-27355000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr10:27342000-27367600	Weak transcription	Stomach Mucosa	stomach
47	chr10:27344200-27356600	Weak transcription	Fetal Kidney	kidney
48	chr10:27345400-27354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:27345600-27358800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:27346600-27353400	Strong transcription	Adipose Nuclei	Adipose

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