Variant report

Variant	rs62027181
Chromosome Location	chr15:75839952-75839953
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	chr15:75835718..75837782-chr15:75838863..75841785,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10851882	0.91[ASN][1000 genomes]
rs11634863	0.84[EUR][1000 genomes]
rs11635080	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11636031	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11636199	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637586	0.88[EUR][1000 genomes]
rs11638974	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11639183	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12708518	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12708519	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12708520	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12909863	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12910672	0.83[EUR][1000 genomes]
rs12916256	0.92[ASN][1000 genomes]
rs12916964	0.88[EUR][1000 genomes]
rs13380103	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28432989	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28610581	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28623700	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28693593	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28737338	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28783769	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4075522	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4299117	0.88[EUR][1000 genomes]
rs4322627	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4381565	0.82[EUR][1000 genomes]
rs4393535	0.88[EUR][1000 genomes]
rs4451914	0.80[ASN][1000 genomes]
rs4545784	0.82[EUR][1000 genomes]
rs4886446	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886707	0.82[EUR][1000 genomes]
rs4886708	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886712	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4886715	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4886716	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4886722	0.84[EUR][1000 genomes]
rs60972074	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62027209	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6495182	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7162532	0.80[AMR][1000 genomes]
rs7163451	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163907	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7170787	0.86[EUR][1000 genomes]
rs7175223	0.81[EUR][1000 genomes]
rs7176938	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7176989	0.87[ASN][1000 genomes]
rs7180574	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7184046	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7495610	0.88[EUR][1000 genomes]
rs8023268	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8023815	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8024244	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8027365	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8027546	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8029112	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8030802	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8034317	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036758	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8036884	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8037089	0.83[EUR][1000 genomes]
rs9920028	0.84[EUR][1000 genomes]
rs9944207	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv904390	chr15:75795177-75840943	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv819520	chr15:75819453-75865881	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs62027181	MAN2C1	cis	Whole Blood	GTEx
rs62027181	MAN2C1	cis	Esophagus Muscularis	GTEx
rs62027181	MAN2C1	cis	Artery Aorta	GTEx
rs62027181	MAN2C1	cis	lung	GTEx
rs62027181	MAN2C1	cis	Esophagus Mucosa	GTEx
rs62027181	MAN2C1	cis	Thyroid	GTEx
rs62027181	MAN2C1	cis	Artery Tibial	GTEx
rs62027181	SNUPN	Cis_1M	lymphoblastoid	RTeQTL
rs62027181	MAN2C1	cis	Adipose Subcutaneous	GTEx
rs62027181	MAN2C1	cis	Nerve Tibial	GTEx
rs62027181	MAN2C1	cis	Skin Sun Exposed Lower leg	GTEx
rs62027181	MAN2C1	cis	Heart Left Ventricle	GTEx
rs62027181	MAN2C1	cis	Stomach	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75817800-75843200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:75819600-75865000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr15:75819800-75840200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:75819800-75860800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:75820000-75844000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:75823800-75858000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
11	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:75825400-75849800	Weak transcription	Brain Anterior Caudate	brain
13	chr15:75825400-75857800	Weak transcription	NH-A	brain
14	chr15:75825600-75859400	Weak transcription	Fetal Stomach	stomach
15	chr15:75826000-75843800	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:75826000-75857800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:75826400-75853800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:75826400-75865600	Weak transcription	HUVEC	blood vessel
19	chr15:75826600-75860400	Weak transcription	Hela-S3	cervix
20	chr15:75826600-75865200	Weak transcription	NHEK	skin
21	chr15:75826800-75843400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:75829200-75862600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:75831000-75864800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:75831200-75842000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:75831400-75847000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:75833200-75865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:75833200-75865400	Weak transcription	HMEC	breast
28	chr15:75835000-75844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:75835200-75847000	Weak transcription	HSMMtube	muscle
30	chr15:75835200-75854400	Weak transcription	HSMM	muscle
31	chr15:75835200-75865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:75835800-75843000	Weak transcription	Placenta	Placenta
34	chr15:75835800-75844800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:75835800-75846800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:75835800-75846800	Weak transcription	Osteobl	bone
37	chr15:75835800-75865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:75836000-75844800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:75836200-75843200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:75836400-75846800	Weak transcription	Brain Angular Gyrus	brain
41	chr15:75836400-75847200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:75836800-75843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:75836800-75845200	Weak transcription	Liver	Liver
44	chr15:75836800-75862200	Weak transcription	Primary T cells from cord blood	blood
45	chr15:75837000-75841600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:75837000-75843200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:75837000-75852400	Weak transcription	HepG2	liver
48	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:75837200-75843800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:75837200-75847200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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