Variant report

Variant	rs7184046
Chromosome Location	chr15:75866150-75866151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75743022..75744794-chr15:75864546..75866192,2	MCF-7	breast:
2	chr15:75860084..75867497-chr15:75867809..75873787,11	MCF-7	breast:
3	chr15:75865359..75867704-chr15:75932021..75934061,2	MCF-7	breast:
4	chr15:75856629..75858738-chr15:75865984..75868280,2	K562	blood:
5	chr15:75862791..75867744-chr15:75868149..75872408,7	MCF-7	breast:
6	chr1:149224401..149225908-chr15:75865883..75867385,2	MCF-7	breast:
7	chr15:75864375..75868073-chr15:75869193..75873820,11	K562	blood:

Variant related genes	Relation type
ENSG00000169410	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000177971	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10220738	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11634863	0.82[EUR][1000 genomes]
rs11635080	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11636031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11636199	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11637586	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11638974	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11639183	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12708518	0.83[EUR][1000 genomes]
rs12708519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12708520	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12909863	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12910672	0.86[EUR][1000 genomes]
rs12916964	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13380103	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13737	0.89[CEU][hapmap]
rs28610581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28623700	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28693593	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28737338	0.82[EUR][1000 genomes]
rs28783769	0.88[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4075522	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4299117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4322627	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4381565	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4393535	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4451914	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4545784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes]
rs4564532	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4886443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes]
rs4886446	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs4886699	1.00[CEU][hapmap]
rs4886703	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4886707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs4886708	0.94[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs4886712	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886715	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886722	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs60972074	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62027181	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62027209	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6495182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162532	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7163451	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7163907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166281	0.88[CEU][hapmap]
rs7166737	1.00[CEU][hapmap]
rs7170787	0.92[EUR][1000 genomes]
rs7171507	0.80[AMR][1000 genomes]
rs7175223	0.84[EUR][1000 genomes]
rs7176938	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7180574	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7495610	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8023268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8023815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8024244	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027365	0.84[ASN][1000 genomes]
rs8027546	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8028182	0.89[YRI][hapmap]
rs8028277	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs8029112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8030802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8034317	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs8036758	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036884	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8037089	0.86[EUR][1000 genomes]
rs8038760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs9920028	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9944207	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

Variant related diseases (count:1)

Disease	PMID	Source
Height	25429064	GWAS catalog

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7184046	MAN2C1	cis	Artery Aorta	GTEx
rs7184046	MAN2C1	cis	Stomach	GTEx
rs7184046	MAN2C1	cis	Artery Tibial	GTEx
rs7184046	MAN2C1	cis	Esophagus Muscularis	GTEx
rs7184046	MAN2C1	cis	Whole Blood	GTEx
rs7184046	MAN2C1	cis	lung	GTEx
rs7184046	MAN2C1	cis	Heart Left Ventricle	GTEx
rs7184046	MAN2C1	cis	Adipose Subcutaneous	GTEx
rs7184046	MAN2C1	cis	Esophagus Mucosa	GTEx
rs7184046	MAN2C1	cis	Nerve Tibial	GTEx
rs7184046	MAN2C1	cis	Skin Sun Exposed Lower leg	GTEx
rs7184046	SNUPN	Cis_1M	lymphoblastoid	RTeQTL
rs7184046	MAN2C1	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75819600-75866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:75819600-75869200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:75819800-75869600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75823800-75869600	Weak transcription	Fetal Thymus	thymus
5	chr15:75824600-75869800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:75835200-75866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:75837000-75869600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:75837400-75869800	Weak transcription	Thymus	Thymus
9	chr15:75837600-75869400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:75837600-75869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:75839600-75866200	Weak transcription	Left Ventricle	heart
12	chr15:75839600-75869800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:75846200-75870200	Weak transcription	Esophagus	oesophagus
14	chr15:75847400-75869600	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:75852800-75868400	Weak transcription	HepG2	liver
16	chr15:75853200-75869400	Weak transcription	Fetal Kidney	kidney
17	chr15:75854800-75869400	Weak transcription	HSMM	muscle
18	chr15:75854800-75869600	Weak transcription	Fetal Intestine Large	intestine
19	chr15:75854800-75869600	Weak transcription	Small Intestine	intestine
20	chr15:75857200-75868400	Weak transcription	Placenta	Placenta
21	chr15:75857800-75869600	Weak transcription	Ovary	ovary
22	chr15:75858000-75869200	Weak transcription	Fetal Lung	lung
23	chr15:75858200-75869400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:75858400-75869200	Weak transcription	HSMMtube	muscle
25	chr15:75860600-75866400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:75861400-75866400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:75861400-75869400	Weak transcription	Brain Substantia Nigra	brain
28	chr15:75862000-75869200	Weak transcription	Liver	Liver
29	chr15:75862200-75869800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:75862600-75869400	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:75862800-75869400	Weak transcription	Brain Anterior Caudate	brain
32	chr15:75862800-75869600	Weak transcription	Primary T cells from cord blood	blood
33	chr15:75863000-75868600	Weak transcription	Right Atrium	heart
34	chr15:75863000-75869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:75863000-75869600	Weak transcription	Right Ventricle	heart
36	chr15:75863000-75869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:75863200-75869400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:75863200-75869600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:75863200-75869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:75863200-75869600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:75863400-75867800	Weak transcription	Dnd41	blood
42	chr15:75864400-75866600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:75864400-75866600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr15:75864400-75866800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr15:75864400-75866800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:75864800-75866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:75864800-75866400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:75864800-75866400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:75864800-75867000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr15:75864800-75868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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