Variant report

Variant	rs12572707
Chromosome Location	chr10:27449991-27449992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27441804..27444778-chr10:27448038..27450568,2	K562	blood:
2	chr10:27447221..27450883-chr10:27478078..27481268,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10829158	0.82[MEX][hapmap]
rs11015447	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015449	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015508	1.00[MEX][hapmap]
rs11015546	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11015603	0.84[ASW][hapmap];0.82[YRI][hapmap]
rs12356360	1.00[YRI][hapmap]
rs12411984	0.87[ASN][1000 genomes]
rs12414055	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12414273	0.85[ASN][1000 genomes]
rs12415390	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs12416077	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12416080	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12569491	0.96[ASN][1000 genomes]
rs12569598	0.89[ASN][1000 genomes]
rs12570065	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs12570662	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs12571529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12571579	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12572302	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12572325	0.82[JPT][hapmap]
rs12572862	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12573268	0.80[ASN][1000 genomes]
rs1329993	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2297144	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs28365962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3758407	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3780924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3780925	0.96[ASN][1000 genomes]
rs3781101	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs3781102	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3802526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818633	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3824592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41282204	0.82[EUR][1000 genomes]
rs41282208	0.82[EUR][1000 genomes]
rs41282216	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282218	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4747586	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4749222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4749227	0.91[ASN][1000 genomes]
rs4749229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4749232	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4749234	1.00[CHB][hapmap]
rs56163609	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57132590	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62622019	0.82[EUR][1000 genomes]
rs73598022	0.81[AFR][1000 genomes]
rs73598027	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598030	0.82[EUR][1000 genomes]
rs73598031	0.82[EUR][1000 genomes]
rs73598032	0.82[EUR][1000 genomes]
rs73598033	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598034	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73598036	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73598037	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12572707	MASTL	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27454200	Weak transcription	Brain Substantia Nigra	brain
2	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
3	chr10:27445200-27453000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:27445200-27454200	Weak transcription	Ovary	ovary
5	chr10:27445200-27454400	Weak transcription	Gastric	stomach
6	chr10:27445400-27450600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:27445400-27450600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:27445400-27452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:27445400-27452800	Weak transcription	Left Ventricle	heart
10	chr10:27445400-27452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:27445400-27453000	Weak transcription	Right Ventricle	heart
12	chr10:27445400-27453000	Weak transcription	HSMMtube	muscle
13	chr10:27445400-27454200	Weak transcription	Brain Anterior Caudate	brain
14	chr10:27445400-27454200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:27445400-27454200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:27445400-27454400	Weak transcription	Aorta	Aorta
17	chr10:27445400-27454400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:27445600-27452600	Weak transcription	Esophagus	oesophagus
20	chr10:27445600-27452600	Weak transcription	Spleen	Spleen
21	chr10:27445600-27454200	Weak transcription	Fetal Kidney	kidney
22	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
23	chr10:27445800-27454400	Weak transcription	Right Atrium	heart
24	chr10:27446000-27454200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:27446400-27450000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:27446400-27450600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:27446400-27450600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:27446400-27450600	Weak transcription	Brain Germinal Matrix	brain
29	chr10:27446400-27452800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:27446400-27454000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:27446400-27454200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:27446400-27454400	Weak transcription	NHLF	lung
33	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
36	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
38	chr10:27446600-27453000	Weak transcription	Fetal Brain Female	brain
39	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:27447000-27451600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:27447000-27456200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:27447000-27460400	Strong transcription	Placenta	Placenta
44	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:27447200-27451000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr10:27447200-27452000	Strong transcription	K562	blood
49	chr10:27447200-27454000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:27447200-27455800	Strong transcription	Fetal Intestine Small	intestine

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