Variant report

Variant	rs7162532
Chromosome Location	chr15:75860861-75860862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75860740..75863258-chr15:75866377..75868431,2	K562	blood:
2	chr15:75860084..75867497-chr15:75867809..75873787,11	MCF-7	breast:
3	chr15:75860072..75862994-chr15:75870067..75872547,2	K562	blood:
4	chr15:75859984..75863258-chr15:75866377..75869193,4	K562	blood:
5	chr15:75858252..75862761-chr15:75869329..75871763,6	K562	blood:

Variant related genes	Relation type
ENSG00000169410	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs13380103	0.83[AMR][1000 genomes]
rs28623700	0.88[AMR][1000 genomes]
rs28693593	0.88[AMR][1000 genomes]
rs28783769	0.90[AMR][1000 genomes]
rs4075522	0.85[AMR][1000 genomes]
rs4393535	0.85[AMR][1000 genomes]
rs4886715	0.82[AMR][1000 genomes]
rs4886716	0.87[AMR][1000 genomes]
rs60972074	0.82[AMR][1000 genomes]
rs62027181	0.80[AMR][1000 genomes]
rs7163451	0.85[AMR][1000 genomes]
rs7163907	0.93[AMR][1000 genomes]
rs7184046	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8036884	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
rs7162532	MAN2C1	cis	Artery Aorta	GTEx
rs7162532	MAN2C1	cis	Whole Blood	GTEx
rs7162532	MAN2C1	cis	Esophagus Mucosa	GTEx
rs7162532	MAN2C1	cis	Thyroid	GTEx
rs7162532	MAN2C1	cis	Heart Left Ventricle	GTEx
rs7162532	MAN2C1	cis	Adipose Subcutaneous	GTEx
rs7162532	MAN2C1	cis	Nerve Tibial	GTEx
rs7162532	MAN2C1	cis	Stomach	GTEx
rs7162532	MAN2C1	cis	Skin Sun Exposed Lower leg	GTEx
rs7162532	SNUPN	Cis_1M	lymphoblastoid	RTeQTL
rs7162532	MAN2C1	cis	Esophagus Muscularis	GTEx
rs7162532	MAN2C1	cis	lung	GTEx
rs7162532	MAN2C1	cis	Artery Tibial	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75865000	Weak transcription	Primary B cells from cord blood	blood
2	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
6	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:75826400-75865600	Weak transcription	HUVEC	blood vessel
8	chr15:75826600-75865200	Weak transcription	NHEK	skin
9	chr15:75829200-75862600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:75831000-75864800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:75833200-75865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:75833200-75865400	Weak transcription	HMEC	breast
13	chr15:75835200-75865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:75835800-75865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:75836800-75862200	Weak transcription	Primary T cells from cord blood	blood
17	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:75837400-75865400	Weak transcription	Colonic Mucosa	Colon
19	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
20	chr15:75837600-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:75839400-75865400	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:75839600-75866200	Weak transcription	Left Ventricle	heart
25	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:75844000-75864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:75844200-75862600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:75845000-75865200	Weak transcription	GM12878-XiMat	blood
29	chr15:75845400-75864400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:75845400-75866000	Weak transcription	Fetal Heart	heart
31	chr15:75846200-75870200	Weak transcription	Esophagus	oesophagus
32	chr15:75846400-75862600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:75847400-75869600	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:75847600-75862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:75847800-75862600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:75852800-75868400	Weak transcription	HepG2	liver
37	chr15:75853000-75862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:75853200-75866000	Weak transcription	Pancreas	Pancrea
39	chr15:75853200-75869400	Weak transcription	Fetal Kidney	kidney
40	chr15:75854800-75869400	Weak transcription	HSMM	muscle
41	chr15:75854800-75869600	Weak transcription	Fetal Intestine Large	intestine
42	chr15:75854800-75869600	Weak transcription	Small Intestine	intestine
43	chr15:75856000-75865200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:75857200-75868400	Weak transcription	Placenta	Placenta
45	chr15:75857600-75863600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:75857600-75864800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:75857800-75864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:75857800-75869600	Weak transcription	Ovary	ovary
49	chr15:75858000-75862400	Weak transcription	Adipose Nuclei	Adipose
50	chr15:75858000-75864800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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