Variant report

Variant	rs11801183
Chromosome Location	chr1:172862984-172862985
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	chr1:172861260..172863626-chr1:172948311..172950341,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10912481	1.00[ASN][1000 genomes]
rs12119745	1.00[CHB][hapmap]
rs12122161	0.90[EUR][1000 genomes]
rs12131049	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142280	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142955	0.86[EUR][1000 genomes]
rs12143054	0.86[EUR][1000 genomes]
rs12143056	0.86[EUR][1000 genomes]
rs55713877	0.95[AFR][1000 genomes]
rs61828382	0.86[EUR][1000 genomes]
rs61828384	0.86[EUR][1000 genomes]
rs61828386	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6684112	0.87[EUR][1000 genomes]
rs704843	1.00[CHB][hapmap]

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	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11801183	MPZL1	cis	parietal	SCAN
rs11801183	SNORD79	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172861800-172863000	Enhancers	Left Ventricle	heart
2	chr1:172861800-172863000	Flanking Active TSS	Hela-S3	cervix
3	chr1:172861800-172863200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:172862000-172863200	Enhancers	Psoas Muscle	Psoas
5	chr1:172862000-172864000	Enhancers	A549	lung
6	chr1:172862000-172864200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:172862200-172863000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:172862200-172863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:172862200-172863800	Enhancers	Dnd41	blood
10	chr1:172862200-172864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:172862400-172863000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:172862400-172863000	Enhancers	Pancreas	Pancrea
13	chr1:172862400-172863000	Enhancers	Osteobl	bone
14	chr1:172862400-172863200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:172862400-172863200	Enhancers	Stomach Mucosa	stomach
16	chr1:172862400-172863600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:172862400-172863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:172862400-172863800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:172862400-172863800	Enhancers	GM12878-XiMat	blood
20	chr1:172862400-172863800	Enhancers	NHEK	skin
21	chr1:172862600-172863000	Flanking Active TSS	HUVEC	blood vessel
22	chr1:172862600-172863200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:172862600-172863600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:172862600-172863800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:172862600-172863800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:172862600-172865200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:172862800-172863000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:172862800-172863000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:172862800-172863000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:172862800-172863000	Enhancers	Small Intestine	intestine
31	chr1:172862800-172863000	Enhancers	NHDF-Ad	bronchial
32	chr1:172862800-172863400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:172862800-172863600	Weak transcription	NHLF	lung
34	chr1:172862800-172863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:172862800-172863800	Weak transcription	Fetal Thymus	thymus
36	chr1:172862800-172864000	Weak transcription	HSMM	muscle
37	chr1:172862800-172864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:172862800-172864200	Weak transcription	Ovary	ovary
39	chr1:172862800-172864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:172862800-172864400	Weak transcription	NH-A	brain
41	chr1:172862800-172866800	Weak transcription	HMEC	breast

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