Variant report

Variant	rs2800392
Chromosome Location	chr10:27523561-27523562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr10:27523125-27523593	HepG2	liver:	n/a	chr10:27523381-27523393
2	GATA3	chr10:27523188-27523651	MCF-7	breast:	n/a	n/a
3	FOSL2	chr10:27522916-27523568	A549	lung:	n/a	chr10:27523287-27523295 chr10:27523287-27523295 chr10:27523288-27523295
4	SP1	chr10:27523039-27523667	A549	lung:	n/a	n/a
5	KAP1	chr10:27523225-27523570	HEK293	kidney:	n/a	n/a
6	TCF7L2	chr10:27523099-27523645	Hela-S3	cervix:	n/a	n/a
7	FOXA1	chr10:27523108-27523614	HepG2	liver:	n/a	chr10:27523381-27523393
8	FOXA2	chr10:27523067-27523739	A549	lung:	n/a	chr10:27523381-27523393
9	GATA3	chr10:27523329-27523574	MCF-7	breast:	n/a	n/a
10	MYBL2	chr10:27523198-27523617	HepG2	liver:	n/a	n/a
11	GATA3	chr10:27522911-27523716	A549	lung:	n/a	n/a
12	TCF12	chr10:27522992-27523635	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27523074..27525459-chr10:27528062..27530998,5	K562	blood:

Variant related genes	Relation type
RNU7-12P	TF binding region
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10430598	0.81[ASN][1000 genomes]
rs10430599	0.81[ASN][1000 genomes]
rs10764690	0.97[ASN][1000 genomes]
rs10829212	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1144510	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1144511	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1148167	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12762457	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1328602	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1780091	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040038	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243922	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2770202	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780667	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780669	0.83[EUR][1000 genomes]
rs2780672	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780674	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2780675	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2780681	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4747588	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4749240	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61849039	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7079282	0.81[AMR][1000 genomes]
rs7919523	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2800392	MASTL	cis	Whole Blood	GTEx
rs2800392	MASTL	cis	Nerve Tibial	GTEx
rs2800392	MASTL	cis	Muscle Skeletal	GTEx
rs2800392	MASTL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
2	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
5	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
7	chr10:27494800-27528200	Weak transcription	K562	blood
8	chr10:27500000-27528000	Weak transcription	NHLF	lung
9	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:27500800-27528000	Weak transcription	HMEC	breast
11	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
15	chr10:27505600-27528000	Weak transcription	NHEK	skin
16	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
19	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
21	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
22	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
23	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
25	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
26	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
27	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
28	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
29	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
31	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:27511800-27527200	Weak transcription	Brain Angular Gyrus	brain
33	chr10:27511800-27527800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr10:27511800-27528200	Weak transcription	Fetal Kidney	kidney
35	chr10:27512200-27527800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:27512200-27527800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:27512200-27528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:27512200-27528200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr10:27512200-27528200	Weak transcription	Osteobl	bone
40	chr10:27512400-27528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:27512400-27528200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:27514000-27524400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:27514400-27524200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr10:27515000-27527400	Weak transcription	Primary T cells from cord blood	blood
45	chr10:27515200-27524600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:27515400-27525000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:27515600-27524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:27515800-27524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:27516000-27524400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:27516200-27524200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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