Variant report

Variant	rs62622019
Chromosome Location	chr10:27436566-27436567
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	chr10:27436463..27438125-chr10:27529965..27532722,2	MCF-7	breast:
2	chr10:27433200..27434750-chr10:27436541..27439491,2	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

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

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

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs12572707	0.82[EUR][1000 genomes]
rs16927620	1.00[ASN][1000 genomes]
rs16927627	1.00[ASN][1000 genomes]
rs16927642	1.00[ASN][1000 genomes]
rs16927653	1.00[ASN][1000 genomes]
rs16927663	1.00[ASN][1000 genomes]
rs1753423	1.00[ASN][1000 genomes]
rs1775349	1.00[ASN][1000 genomes]
rs1970541	1.00[ASN][1000 genomes]
rs2479908	1.00[ASN][1000 genomes]
rs2479909	1.00[ASN][1000 genomes]
rs2479911	1.00[ASN][1000 genomes]
rs2483490	1.00[ASN][1000 genomes]
rs2483491	1.00[ASN][1000 genomes]
rs2483492	1.00[ASN][1000 genomes]
rs2489372	1.00[ASN][1000 genomes]
rs28365962	0.82[EUR][1000 genomes]
rs2987452	1.00[ASN][1000 genomes]
rs2995499	1.00[ASN][1000 genomes]
rs3824592	0.82[EUR][1000 genomes]
rs41282204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299222	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522064	1.00[ASN][1000 genomes]
rs481629	1.00[ASN][1000 genomes]
rs57132590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59162492	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	1.00[ASN][1000 genomes]
rs73596346	0.93[AMR][1000 genomes]
rs73596349	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596351	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596353	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73596354	1.00[ASN][1000 genomes]
rs73598015	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598019	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598035	0.82[EUR][1000 genomes]
rs73598036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598041	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598044	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs788214	1.00[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
rs62622019	MASTL	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:27393800-27438600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:27395400-27437800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:27396200-27440600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:27397600-27438600	Strong transcription	Fetal Thymus	thymus
7	chr10:27398800-27438200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr10:27398800-27438200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:27399600-27438400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:27399800-27438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:27400400-27438400	Strong transcription	Liver	Liver
12	chr10:27412400-27440200	Weak transcription	Fetal Heart	heart
13	chr10:27419200-27438600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr10:27419200-27438800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
16	chr10:27427000-27438600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:27427200-27436600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr10:27427200-27438000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:27427200-27438400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:27427600-27438000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr10:27428000-27438000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr10:27428000-27438600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:27428000-27438800	Strong transcription	Fetal Intestine Large	intestine
24	chr10:27428000-27439000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:27428000-27441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:27428200-27437800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:27428200-27438000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr10:27428200-27438200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:27428200-27438600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:27428800-27438800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr10:27429600-27438000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:27429600-27438600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:27429800-27438200	Strong transcription	HSMM	muscle
34	chr10:27429800-27438400	Strong transcription	Adipose Nuclei	Adipose
35	chr10:27430000-27438000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr10:27430400-27438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:27431600-27436600	Weak transcription	Hela-S3	cervix
38	chr10:27431800-27437800	Strong transcription	Fetal Brain Female	brain
39	chr10:27431800-27438600	Strong transcription	Primary T cells from cord blood	blood
40	chr10:27431800-27440400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr10:27431800-27442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr10:27432000-27438000	Strong transcription	Fetal Lung	lung
43	chr10:27432000-27438000	Strong transcription	HUVEC	blood vessel
44	chr10:27432000-27438200	Strong transcription	NHEK	skin
45	chr10:27432400-27437000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:27432400-27438200	Strong transcription	NH-A	brain
47	chr10:27432400-27439200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:27432600-27437600	Strong transcription	Fetal Kidney	kidney
49	chr10:27432600-27437800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr10:27432600-27438000	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links