Variant report

Variant	rs10800267
Chromosome Location	chr1:166812550-166812551
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166810529..166812813-chr1:166843777..166846056,3	K562	blood:
2	chr1:166812541..166816415-chr1:166843995..166846618,4	MCF-7	breast:
3	chr1:166789432..166792373-chr1:166811035..166813066,2	K562	blood:
4	chr1:166811620..166813696-chr1:166822338..166824892,2	MCF-7	breast:
5	chr1:166811015..166814077-chr1:166825139..166827323,3	MCF-7	breast:
6	chr1:166810319..166812756-chr20:58636526..58639447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10800268	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10800269	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10918586	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10918587	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12028246	0.83[ASN][1000 genomes]
rs12029327	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12029367	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12032642	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12039764	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12117020	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12122547	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476348	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476349	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476350	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17331024	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075947	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2232521	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272793	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35622400	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3738209	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753910	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4657607	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61408535	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6675033	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675153	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6675750	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6677387	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6691431	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6718	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs742006	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7531189	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543998	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7548191	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7554414	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs760537	0.90[EUR][1000 genomes];0.84[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10800267	DUTP6	cis	Thyroid	GTEx
rs10800267	DUTP6	cis	lung	GTEx
rs10800267	DUTP6	cis	Adipose Subcutaneous	GTEx
rs10800267	MAEL	cis	Thyroid	GTEx
rs10800267	DUTP6	cis	Muscle Skeletal	GTEx
rs10800267	DUTP6	cis	Esophagus Muscularis	GTEx
rs10800267	DUTP6	cis	Artery Tibial	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	chr1:166810000-166814800	Genic enhancers	Right Ventricle	heart
3	chr1:166810000-166815800	Genic enhancers	Spleen	Spleen
4	chr1:166810200-166813200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:166810200-166813200	Genic enhancers	Brain Substantia Nigra	brain
6	chr1:166810200-166815000	Genic enhancers	Lung	lung
7	chr1:166810200-166820600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:166810400-166812800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:166810400-166813000	Genic enhancers	Brain Germinal Matrix	brain
10	chr1:166810400-166813000	Strong transcription	HSMMtube	muscle
11	chr1:166810400-166813400	Genic enhancers	NHDF-Ad	bronchial
12	chr1:166810400-166813600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:166810400-166813800	Genic enhancers	Fetal Intestine Large	intestine
14	chr1:166810400-166814200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:166810400-166814400	Genic enhancers	Gastric	stomach
16	chr1:166810400-166815800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:166810400-166817200	Genic enhancers	Left Ventricle	heart
18	chr1:166810400-166820600	Strong transcription	Ovary	ovary
19	chr1:166810400-166822000	Strong transcription	Thymus	Thymus
20	chr1:166810400-166828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:166810600-166812600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:166810600-166812600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:166810600-166812800	Genic enhancers	Brain Hippocampus Middle	brain
24	chr1:166810600-166813000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:166810600-166813000	Genic enhancers	Brain Angular Gyrus	brain
26	chr1:166810600-166813000	Genic enhancers	Fetal Brain Female	brain
27	chr1:166810600-166813200	Strong transcription	HSMM	muscle
28	chr1:166810600-166813600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:166810600-166813600	Genic enhancers	Duodenum Mucosa	Duodenum
30	chr1:166810600-166814200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:166810600-166814200	Genic enhancers	Adipose Nuclei	Adipose
32	chr1:166810600-166814400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:166810600-166814400	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr1:166810600-166814400	Genic enhancers	Pancreas	Pancrea
35	chr1:166810600-166814600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:166810600-166815000	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:166810600-166815400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:166810600-166815800	Enhancers	Right Atrium	heart
39	chr1:166810600-166820200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:166810600-166823600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:166810600-166824400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:166810600-166825600	Strong transcription	NHLF	lung
43	chr1:166810600-166828200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:166810600-166829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:166810600-166829400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:166810800-166812600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:166810800-166812800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:166810800-166812800	Genic enhancers	Brain Anterior Caudate	brain

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