Variant report

Variant	rs6482601
Chromosome Location	chr10:27464600-27464601
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	chr10:27464535..27466928-chr10:27523135..27525972,2	K562	blood:
2	chr10:27457174..27459918-chr10:27462795..27464815,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	Chromatin interaction
ENSG00000263577	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10458707	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10734064	0.84[ASN][1000 genomes]
rs10741130	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10764664	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10764665	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10764667	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10764668	0.84[ASN][1000 genomes]
rs10764669	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10764673	0.87[ASN][1000 genomes]
rs10764675	0.89[ASN][1000 genomes]
rs10764676	0.97[ASN][1000 genomes]
rs10764680	0.88[ASN][1000 genomes]
rs10764683	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10764684	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10764686	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs10829162	0.95[CHB][hapmap]
rs10829163	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs10829167	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs10829172	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs10829173	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10829174	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs10829176	0.85[ASN][1000 genomes]
rs10829180	0.86[ASN][1000 genomes]
rs10829181	0.86[ASN][1000 genomes]
rs10829185	0.86[ASN][1000 genomes]
rs10829188	0.96[ASN][1000 genomes]
rs10829191	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs10829192	0.89[ASN][1000 genomes]
rs10829193	0.89[ASN][1000 genomes]
rs10829197	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10829200	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10829201	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10829202	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10829208	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11015522	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11015530	0.81[ASN][1000 genomes]
rs11015532	0.84[ASN][1000 genomes]
rs11015538	0.89[ASN][1000 genomes]
rs11015542	0.89[ASN][1000 genomes]
rs11015548	0.89[ASN][1000 genomes]
rs11015549	0.97[ASN][1000 genomes]
rs11015554	0.89[ASN][1000 genomes]
rs11015555	0.89[ASN][1000 genomes]
rs11015556	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs11015558	0.89[ASN][1000 genomes]
rs11015559	0.91[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs11015560	0.89[ASN][1000 genomes]
rs11015563	0.97[ASN][1000 genomes]
rs11015564	0.91[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs11015565	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs11015566	0.89[ASN][1000 genomes]
rs11015570	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs11015571	0.91[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs11015575	0.86[ASN][1000 genomes]
rs11015586	1.00[ASN][1000 genomes]
rs11015588	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11015589	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11015590	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11015600	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs11597298	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11813670	0.89[ASN][1000 genomes]
rs12265358	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12571792	0.89[ASN][1000 genomes]
rs12572344	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs12762457	0.86[ASN][1000 genomes]
rs12766193	0.81[ASN][1000 genomes]
rs12769335	0.89[ASN][1000 genomes]
rs12784464	0.84[ASN][1000 genomes]
rs1338	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1360007	0.97[ASN][1000 genomes]
rs1411283	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs1557168	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1557169	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1557170	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1981296	0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2183334	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2185808	0.93[ASN][1000 genomes]
rs2274634	0.91[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs2274635	0.91[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs2274741	0.95[CHB][hapmap]
rs2274743	0.89[ASN][1000 genomes]
rs2297143	0.88[ASN][1000 genomes]
rs2297145	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs2297147	0.86[ASN][1000 genomes]
rs2297151	0.89[ASN][1000 genomes]
rs2297152	0.88[ASN][1000 genomes]
rs2368217	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs2887190	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3737055	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs3758403	0.94[ASN][1000 genomes]
rs3780920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3780921	0.91[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs3780922	0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs3780926	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs3824593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3904244	0.95[CHB][hapmap]
rs3932559	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs4018760	0.87[ASN][1000 genomes]
rs4142123	0.97[ASN][1000 genomes]
rs4481929	0.81[ASN][1000 genomes]
rs4747585	0.85[ASN][1000 genomes]
rs4747588	0.85[CHB][hapmap]
rs4749213	0.95[CHB][hapmap]
rs4749226	0.89[ASN][1000 genomes]
rs4749240	0.85[ASN][1000 genomes]
rs55741077	0.85[ASN][1000 genomes]
rs61849039	0.85[ASN][1000 genomes]
rs6482596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6482600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67425403	0.89[ASN][1000 genomes]
rs7067696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7068375	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7069942	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7070117	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7079282	0.86[ASN][1000 genomes]
rs7079792	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7079885	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7083768	0.91[CHB][hapmap]
rs7086311	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs7086553	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7087082	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs7088171	0.95[CHB][hapmap]
rs7091128	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7091723	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7097009	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs7477806	0.94[ASN][1000 genomes]
rs7894187	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7896012	0.89[ASN][1000 genomes]
rs7897241	0.88[ASN][1000 genomes]
rs7900024	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7901653	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs7901976	0.97[ASN][1000 genomes]
rs7909684	0.84[ASN][1000 genomes]
rs7910367	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7910430	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs7910688	0.91[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs7914630	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs7918395	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7919523	0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs7919621	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs7921980	0.89[ASN][1000 genomes]
rs7924231	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs882474	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9299837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9651378	0.91[CHB][hapmap]
rs9971193	0.89[ASN][1000 genomes]
rs9971335	0.82[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs6482601	MASTL	cis	Nerve Tibial	GTEx
rs6482601	MASTL	cis	Thyroid	GTEx
rs6482601	ARMC4P1	cis	Esophagus Muscularis	GTEx
rs6482601	MASTL	cis	Whole Blood	GTEx
rs6482601	ACBD5	cis	cerebellum	SCAN
rs6482601	MASTL	cis	Skin Sun Exposed Lower leg	GTEx
rs6482601	MASTL	cis	lymphoblastoid	seeQTL
rs6482601	MASTL	cis	lung	GTEx
rs6482601	MASTL	cis	Muscle Skeletal	GTEx
rs6482601	MASTL	cis	Esophagus Muscularis	GTEx
rs6482601	MASTL	cis	Stomach	GTEx
rs6482601	LOC387646	cis	cerebellum	SCAN
rs6482601	MASTL	cis	cerebellum	SCAN
rs6482601	MASTL	cis	Artery Tibial	GTEx
rs6482601	ANKRD26	cis	parietal	SCAN
rs6482601	MASTL	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
4	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
7	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
9	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:27447200-27476200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:27447200-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:27447400-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr10:27448200-27476000	Strong transcription	Dnd41	blood
22	chr10:27449400-27472800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:27450200-27470600	Strong transcription	A549	lung
25	chr10:27452400-27467200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
27	chr10:27454800-27469000	Weak transcription	Gastric	stomach
28	chr10:27454800-27473000	Weak transcription	Brain Anterior Caudate	brain
29	chr10:27454800-27473800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:27454800-27481200	Weak transcription	Brain Substantia Nigra	brain
31	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:27455000-27478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
34	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
35	chr10:27455200-27466000	Weak transcription	Fetal Kidney	kidney
36	chr10:27455200-27472600	Weak transcription	Brain Hippocampus Middle	brain
37	chr10:27455200-27473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:27455200-27475000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:27455600-27494600	Weak transcription	Pancreas	Pancrea
41	chr10:27455800-27472000	Weak transcription	Brain Germinal Matrix	brain
42	chr10:27455800-27485200	Weak transcription	Colonic Mucosa	Colon
43	chr10:27456200-27465800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:27456200-27465800	Weak transcription	Left Ventricle	heart
45	chr10:27456200-27466400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:27456200-27472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:27456200-27473800	Weak transcription	Ovary	ovary
48	chr10:27456200-27484200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:27456200-27484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:27456200-27490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links