Variant report

Variant	rs10800273
Chromosome Location	chr1:166836428-166836429
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166833957..166837285-chr1:166843976..166847028,5	MCF-7	breast:
2	chr1:166832382..166838058-chr1:166843027..166847962,8	MCF-7	breast:
3	chr1:166808237..166810193-chr1:166835815..166838073,2	MCF-7	breast:
4	chr1:166808610..166810800-chr1:166834167..166836603,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143157	Chromatin interaction
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10800269	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10800271	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10800275	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10918586	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10918587	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11582566	0.82[AMR][1000 genomes]
rs12028246	0.81[ASN][1000 genomes]
rs12029327	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12029367	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12032642	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12039764	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12122547	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1476348	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1476349	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1476350	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17331024	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2075947	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2232521	0.81[ASN][1000 genomes]
rs2272793	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35622400	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3753910	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4657607	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61408535	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6427038	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6675033	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6675153	0.81[ASN][1000 genomes]
rs6675750	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6677387	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6688277	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6690192	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6691431	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6718	0.80[ASN][1000 genomes]
rs742006	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7531189	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7532247	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs760537	0.85[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10800273	MAEL	cis	Esophagus Muscularis	GTEx
rs10800273	DUTP6	cis	Artery Aorta	GTEx
rs10800273	DUTP6	cis	Artery Tibial	GTEx
rs10800273	DUTP6	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
6	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
11	chr1:166813200-166840600	Strong transcription	Dnd41	blood
12	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
16	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
21	chr1:166819600-166838400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
23	chr1:166824400-166837200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:166824600-166838200	Strong transcription	Fetal Intestine Small	intestine
25	chr1:166825000-166844400	Weak transcription	HSMMtube	muscle
26	chr1:166825600-166839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:166825800-166838000	Strong transcription	HepG2	liver
28	chr1:166825800-166838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:166826800-166837400	Weak transcription	HSMM	muscle
30	chr1:166827000-166837600	Weak transcription	NHLF	lung
31	chr1:166827000-166840800	Weak transcription	Psoas Muscle	Psoas
32	chr1:166828200-166837400	Weak transcription	Colonic Mucosa	Colon
33	chr1:166828600-166838400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:166829200-166836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:166829200-166837400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:166829200-166837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:166829200-166837800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:166829200-166838400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:166829200-166843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:166829200-166844200	Weak transcription	Fetal Heart	heart
41	chr1:166829200-166844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:166829400-166837600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:166829400-166840600	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:166829800-166837400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:166829800-166837400	Weak transcription	NHDF-Ad	bronchial
46	chr1:166829800-166837400	Weak transcription	NHEK	skin
47	chr1:166829800-166837600	Strong transcription	Liver	Liver
48	chr1:166830800-166837400	Weak transcription	Fetal Brain Male	brain
49	chr1:166831000-166841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:166831200-166838400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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