Variant report

Variant	rs10077228
Chromosome Location	chr5:54035625-54035626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:
2	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10077227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940420	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10940421	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11741898	0.95[ASN][1000 genomes]
rs12520102	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13180905	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445837	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445838	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445839	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867687	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35207106	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242043	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367251	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4367252	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367253	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4410612	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419552	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4487449	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541609	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4596333	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639171	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639172	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6872707	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6881842	0.96[ASN][1000 genomes]
rs6899028	0.94[ASN][1000 genomes]
rs7701622	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7710924	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7735360	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735378	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7736184	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs895329	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292068	0.95[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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10077228	MOCS2	cis	cerebellum	SCAN
rs10077228	PELO	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:54032600-54037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:54032600-54038200	Weak transcription	Fetal Heart	heart
5	chr5:54032600-54038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:54033800-54037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:54034200-54037800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:54034200-54038200	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:54034200-54038200	Weak transcription	HSMM	muscle
10	chr5:54034200-54038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:54034200-54038400	Weak transcription	Fetal Lung	lung
12	chr5:54034200-54039000	Enhancers	NHDF-Ad	bronchial
13	chr5:54034200-54039600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:54034200-54040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:54034400-54036000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:54034400-54036000	Weak transcription	Spleen	Spleen
17	chr5:54034400-54036800	Weak transcription	Gastric	stomach
18	chr5:54034400-54037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:54034400-54037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:54034400-54037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:54034400-54037600	Weak transcription	Osteobl	bone
22	chr5:54034400-54038200	Weak transcription	Adipose Nuclei	Adipose
23	chr5:54034400-54038200	Weak transcription	Left Ventricle	heart
24	chr5:54034400-54038200	Weak transcription	Small Intestine	intestine
25	chr5:54034400-54038200	Weak transcription	Stomach Mucosa	stomach
26	chr5:54034400-54039400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:54034400-54039800	Weak transcription	Esophagus	oesophagus
28	chr5:54034400-54039800	Weak transcription	Fetal Stomach	stomach
29	chr5:54034400-54039800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:54034600-54036800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:54034600-54037400	Weak transcription	Hela-S3	cervix
32	chr5:54034600-54037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:54034600-54037800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:54034600-54038000	Weak transcription	Placenta	Placenta
35	chr5:54034600-54038200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:54034600-54038200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:54034600-54038200	Weak transcription	Right Atrium	heart
38	chr5:54034600-54038200	Weak transcription	Right Ventricle	heart
39	chr5:54034600-54038200	Weak transcription	HUVEC	blood vessel
40	chr5:54034600-54039200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:54034600-54039600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:54034600-54039800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:54034600-54041400	Weak transcription	Lung	lung
44	chr5:54034800-54037600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:54034800-54037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:54034800-54037600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:54034800-54037800	Enhancers	K562	blood
48	chr5:54034800-54038200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:54034800-54038200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:54034800-54039400	Weak transcription	Primary T cells from cord blood	blood

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