Variant report

Variant	rs2811876
Chromosome Location	chr1:59215791-59215792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59211377..59213683-chr1:59215503..59217817,3	K562	blood:
2	chr1:59214840..59216632-chr1:59220643..59222898,2	K562	blood:
3	chr1:59214317..59217323-chr1:59243104..59246296,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2811856	0.87[CEU][hapmap]
rs2811877	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811878	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811881	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	esv2754829	chr1:59197556-59215791	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2811876	MYSM1	cis	cerebellum	SCAN
rs2811876	MYSM1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59206200-59221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:59207600-59220000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:59207800-59220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59207800-59220000	Weak transcription	Psoas Muscle	Psoas
5	chr1:59211600-59218200	Weak transcription	NHDF-Ad	bronchial
6	chr1:59211600-59221000	Weak transcription	Stomach Mucosa	stomach
7	chr1:59212000-59220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:59212200-59218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:59212600-59218800	Weak transcription	NH-A	brain
10	chr1:59212800-59218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:59212800-59218600	Weak transcription	HMEC	breast
12	chr1:59212800-59218600	Weak transcription	NHLF	lung
13	chr1:59213000-59218400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:59213600-59216400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:59214000-59215800	Enhancers	Brain Germinal Matrix	brain
16	chr1:59214400-59218400	Enhancers	HepG2	liver
17	chr1:59214800-59215800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:59215000-59215800	Enhancers	NHEK	skin
19	chr1:59215000-59216800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:59215000-59218800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:59215200-59216400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:59215200-59218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:59215200-59218400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:59215200-59218600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:59215200-59221200	Weak transcription	Fetal Brain Female	brain
26	chr1:59215200-59221200	Weak transcription	Fetal Stomach	stomach
27	chr1:59215400-59217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:59215400-59218400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:59215400-59218400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:59215400-59218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:59215400-59218600	Weak transcription	Fetal Lung	lung
32	chr1:59215400-59219800	Weak transcription	Fetal Brain Male	brain
33	chr1:59215400-59221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:59215600-59216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:59215600-59218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:59215600-59218800	Weak transcription	HUVEC	blood vessel

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