Variant report

Variant	rs4747594
Chromosome Location	chr10:27511043-27511044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10764672	1.00[JPT][hapmap]
rs10829164	1.00[JPT][hapmap]
rs10829195	1.00[JPT][hapmap]
rs10829217	1.00[ASN][1000 genomes]
rs1085782	1.00[JPT][hapmap]
rs11015463	1.00[JPT][hapmap]
rs11015619	0.84[AMR][1000 genomes]
rs11015620	0.84[AMR][1000 genomes]
rs11015624	1.00[ASN][1000 genomes]
rs11015628	0.94[ASN][1000 genomes]
rs11812283	0.87[CEU][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs11812740	1.00[ASN][1000 genomes]
rs11818418	0.88[ASN][1000 genomes]
rs12260818	0.88[ASN][1000 genomes]
rs12262209	0.88[ASN][1000 genomes]
rs12264871	0.93[ASN][1000 genomes]
rs12411584	1.00[JPT][hapmap]
rs12411593	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12411672	0.84[AMR][1000 genomes]
rs12413716	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12415447	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12415615	1.00[JPT][hapmap]
rs12571272	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12774718	1.00[ASN][1000 genomes]
rs12775195	0.83[ASN][1000 genomes]
rs12775838	0.88[ASN][1000 genomes]
rs16916444	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927573	1.00[JPT][hapmap]
rs1753415	1.00[JPT][hapmap]
rs17748862	0.88[ASN][1000 genomes]
rs1775350	1.00[JPT][hapmap]
rs1930960	0.88[ASN][1000 genomes]
rs2027538	1.00[ASN][1000 genomes]
rs34983424	0.88[ASN][1000 genomes]
rs35053986	0.83[ASN][1000 genomes]
rs35931272	0.88[ASN][1000 genomes]
rs4747584	1.00[JPT][hapmap]
rs4747590	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4747592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749217	1.00[JPT][hapmap]
rs4749230	1.00[JPT][hapmap]
rs4749233	1.00[JPT][hapmap]
rs55770293	0.88[ASN][1000 genomes]
rs56207199	0.88[ASN][1000 genomes]
rs56313380	0.88[ASN][1000 genomes]
rs56352097	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56406502	0.88[ASN][1000 genomes]
rs61149145	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415983	1.00[JPT][hapmap]
rs6482593	1.00[JPT][hapmap]
rs6482595	1.00[JPT][hapmap]
rs6482598	1.00[JPT][hapmap]
rs67395401	0.88[ASN][1000 genomes]
rs7087033	1.00[JPT][hapmap]
rs73598046	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73598048	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73598052	0.94[ASN][1000 genomes]
rs788210	1.00[JPT][hapmap]
rs788220	1.00[JPT][hapmap]
rs788237	1.00[JPT][hapmap]
rs7900533	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7907988	1.00[JPT][hapmap]
rs7910168	1.00[JPT][hapmap]
rs7918232	1.00[JPT][hapmap]
rs7918793	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919807	1.00[ASN][1000 genomes]
rs7920681	1.00[ASN][1000 genomes]
rs9833	1.00[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4747594	MASTL	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 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	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
6	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:27483800-27512200	Strong transcription	Liver	Liver
8	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
17	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
28	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:27490200-27512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:27491200-27512400	Strong transcription	Placenta	Placenta
35	chr10:27491400-27512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
37	chr10:27492800-27512400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:27494800-27528200	Weak transcription	K562	blood
39	chr10:27499400-27512400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:27500000-27528000	Weak transcription	NHLF	lung
41	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr10:27500200-27519800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:27500800-27528000	Weak transcription	HMEC	breast
44	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:27501400-27511800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:27502600-27512600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:27504000-27515400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
50	chr10:27504800-27514600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links