Variant report

Variant	rs10800268
Chromosome Location	chr1:166820104-166820105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166818097..166822012-chr1:166824205..166826339,3	K562	blood:
2	chr1:166817577..166820146-chr1:166827055..166828748,2	K562	blood:
3	chr1:166818132..166820570-chr1:166843908..166846380,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10800267	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10800269	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918586	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918587	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028246	0.91[ASN][1000 genomes]
rs12029327	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029367	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12032642	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12039764	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12117020	0.88[EUR][1000 genomes]
rs12122547	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476348	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476349	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476350	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17331024	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2075947	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2232521	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272793	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35622400	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738209	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753910	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4657607	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61408535	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6675033	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6675153	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6675750	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6677387	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6691431	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs742006	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7531189	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7543998	0.81[EUR][1000 genomes]
rs7548191	0.83[EUR][1000 genomes]
rs7554414	0.81[EUR][1000 genomes]
rs760537	0.87[EUR][1000 genomes];0.92[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
rs10800268	DUTP6	cis	Adipose Subcutaneous	GTEx
rs10800268	DUTP6	cis	Thyroid	GTEx
rs10800268	MAEL	cis	Esophagus Muscularis	GTEx
rs10800268	DUTP6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 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	chr1:166810200-166820600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:166810400-166820600	Strong transcription	Ovary	ovary
4	chr1:166810400-166822000	Strong transcription	Thymus	Thymus
5	chr1:166810400-166828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:166810600-166820200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:166810600-166823600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:166810600-166824400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:166810600-166825600	Strong transcription	NHLF	lung
10	chr1:166810600-166828200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:166810600-166829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:166810600-166829400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:166810800-166824000	Strong transcription	NHEK	skin
16	chr1:166810800-166825000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:166810800-166827400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:166810800-166827800	Strong transcription	A549	lung
19	chr1:166810800-166828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:166810800-166828800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:166810800-166828800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:166810800-166832400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:166810800-166834200	Strong transcription	Fetal Stomach	stomach
24	chr1:166810800-166835200	Strong transcription	K562	blood
25	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:166811000-166835600	Strong transcription	Primary B cells from cord blood	blood
28	chr1:166811200-166834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
30	chr1:166811400-166827400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:166811400-166829800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr1:166811600-166823600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:166811600-166827400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:166812000-166825000	Strong transcription	HepG2	liver
37	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
40	chr1:166812400-166820800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:166812600-166821800	Strong transcription	GM12878-XiMat	blood
42	chr1:166812800-166828800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:166813000-166834200	Strong transcription	Hela-S3	cervix
44	chr1:166813200-166832000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:166813200-166834600	Strong transcription	Placenta	Placenta
46	chr1:166813200-166840600	Strong transcription	Dnd41	blood
47	chr1:166813400-166820200	Strong transcription	Aorta	Aorta
48	chr1:166813400-166827200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:166813600-166823800	Strong transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links