Variant report

Variant	rs11803833
Chromosome Location	chr1:166813933-166813934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166812541..166816415-chr1:166843995..166846618,4	MCF-7	breast:
2	chr1:166811015..166814077-chr1:166825139..166827323,3	MCF-7	breast:
3	chr1:166812785..166814397-chr1:166827884..166830540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10918585	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272792	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs4657608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6683488	1.00[ASN][1000 genomes]
rs7544940	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs760536	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11803833	MAEL	cis	lymphoblastoid	seeQTL
rs11803833	DUTP6	cis	Adipose Subcutaneous	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	chr1:166810200-166815000	Genic enhancers	Lung	lung
5	chr1:166810200-166820600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:166810400-166814200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:166810400-166814400	Genic enhancers	Gastric	stomach
8	chr1:166810400-166815800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:166810400-166817200	Genic enhancers	Left Ventricle	heart
10	chr1:166810400-166820600	Strong transcription	Ovary	ovary
11	chr1:166810400-166822000	Strong transcription	Thymus	Thymus
12	chr1:166810400-166828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:166810600-166814200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:166810600-166814200	Genic enhancers	Adipose Nuclei	Adipose
15	chr1:166810600-166814400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:166810600-166814400	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr1:166810600-166814400	Genic enhancers	Pancreas	Pancrea
18	chr1:166810600-166814600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:166810600-166815000	Genic enhancers	Fetal Intestine Small	intestine
20	chr1:166810600-166815400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:166810600-166815800	Enhancers	Right Atrium	heart
22	chr1:166810600-166820200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:166810600-166823600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:166810600-166824400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:166810600-166825600	Strong transcription	NHLF	lung
26	chr1:166810600-166828200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:166810600-166829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:166810600-166829400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:166810800-166814200	Genic enhancers	Rectal Smooth Muscle	rectum
32	chr1:166810800-166814400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:166810800-166814400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:166810800-166814600	Genic enhancers	Osteobl	bone
35	chr1:166810800-166815200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:166810800-166815200	Genic enhancers	Colon Smooth Muscle	Colon
37	chr1:166810800-166817200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:166810800-166819200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:166810800-166824000	Strong transcription	NHEK	skin
40	chr1:166810800-166825000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:166810800-166827400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:166810800-166827800	Strong transcription	A549	lung
43	chr1:166810800-166828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:166810800-166828800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:166810800-166828800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:166810800-166832400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:166810800-166834200	Strong transcription	Fetal Stomach	stomach
48	chr1:166810800-166835200	Strong transcription	K562	blood
49	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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