Variant report

Variant	rs8028182
Chromosome Location	chr15:75718669-75718670
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75715636..75718966-chr15:75721339..75724020,3	K562	blood:
2	chr15:75706725..75708427-chr15:75716550..75719773,3	K562	blood:

Variant related genes	Relation type
ENSG00000261714	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10152155	0.92[AFR][1000 genomes]
rs11631052	0.92[AFR][1000 genomes]
rs11636031	0.83[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap]
rs11636199	0.88[ASW][hapmap];0.82[GIH][hapmap];0.97[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs11637068	0.83[EUR][1000 genomes]
rs11638974	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs12708519	0.82[ASW][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap]
rs12708520	0.93[YRI][hapmap]
rs13380103	0.96[YRI][hapmap]
rs28610581	0.85[GIH][hapmap];0.84[LWK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap]
rs28693593	0.83[ASW][hapmap];0.82[GIH][hapmap];0.95[LWK][hapmap];0.84[TSI][hapmap];0.89[YRI][hapmap]
rs28783769	0.80[GIH][hapmap];0.95[LWK][hapmap];0.80[YRI][hapmap]
rs4075522	0.83[ASW][hapmap];0.82[GIH][hapmap];0.97[LWK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap]
rs4243033	0.93[AFR][1000 genomes]
rs4297648	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4299117	0.85[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap]
rs4322627	0.83[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.84[TSI][hapmap];0.88[YRI][hapmap]
rs4451914	0.94[ASW][hapmap];1.00[LWK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4462560	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs4486847	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4564532	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4886443	0.94[ASW][hapmap];0.83[GIH][hapmap];0.97[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4886446	0.89[ASW][hapmap];0.84[GIH][hapmap];0.97[LWK][hapmap];0.96[YRI][hapmap]
rs4886699	0.94[ASW][hapmap];0.85[GIH][hapmap];0.97[LWK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4886700	0.93[AFR][1000 genomes]
rs4886703	0.94[ASW][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4886707	0.84[MEX][hapmap];0.81[TSI][hapmap]
rs4886708	0.89[ASW][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap]
rs5745920	0.88[AFR][1000 genomes]
rs6495182	0.85[GIH][hapmap];0.84[TSI][hapmap];0.80[YRI][hapmap]
rs7163907	0.82[GIH][hapmap];0.90[LWK][hapmap];0.82[YRI][hapmap]
rs7166737	0.89[YRI][hapmap];0.92[AFR][1000 genomes]
rs7171507	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7175852	0.89[ASW][hapmap];0.85[GIH][hapmap];0.97[LWK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs7184046	0.89[YRI][hapmap]
rs7402844	0.86[AFR][1000 genomes]
rs8023268	0.93[YRI][hapmap]
rs8023815	0.83[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap]
rs8028277	0.94[ASW][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs8029112	0.83[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap]
rs8030802	0.82[ASW][hapmap];0.87[GIH][hapmap];0.86[YRI][hapmap]
rs8034317	0.89[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap]
rs8038760	0.94[ASW][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[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	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Sudden cardiac arrest	21658281	GWAS catalog

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs8028182	MAN2C1	cis	lung	GTEx
rs8028182	MAN2C1	cis	Esophagus Mucosa	GTEx
rs8028182	MAN2C1	cis	Heart Left Ventricle	GTEx
rs8028182	MAN2C1	cis	multi-tissue	Pritchard
rs8028182	MAN2C1	cis	Artery Tibial	GTEx
rs8028182	SNUPN	Cis_1M	lymphoblastoid	RTeQTL
rs8028182	ARID3B	cis	parietal	SCAN
rs8028182	NRG4	cis	cerebellum	SCAN
rs8028182	MAN2C1	cis	Nerve Tibial	GTEx
rs8028182	MAN2C1	cis	parietal	SCAN
rs8028182	MAN2C1	cis	Whole Blood	GTEx
rs8028182	MAN2C1	cis	Thyroid	GTEx
rs8028182	MAN2C1	cis	Esophagus Muscularis	GTEx
rs8028182	MAN2C1	cis	cerebellum	SCAN
rs8028182	MAN2C1	cis	Adipose Subcutaneous	GTEx
rs8028182	MAN2C1	cis	Skin Sun Exposed Lower leg	GTEx
rs8028182	MAN2C1	cis	Stomach	GTEx
rs8028182	MAN2C1	cis	Artery Aorta	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:75665800-75723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:75683000-75730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:75703200-75732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:75704800-75728200	Weak transcription	Psoas Muscle	Psoas
8	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
9	chr15:75705200-75738200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:75705400-75720600	Weak transcription	Aorta	Aorta
11	chr15:75705400-75722600	Weak transcription	Gastric	stomach
12	chr15:75705400-75724600	Weak transcription	Fetal Heart	heart
13	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
15	chr15:75705600-75720400	Weak transcription	Brain Angular Gyrus	brain
16	chr15:75706000-75719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:75706600-75720400	Weak transcription	Fetal Kidney	kidney
18	chr15:75708800-75723200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:75708800-75740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:75709000-75723000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:75709000-75723000	Strong transcription	Fetal Thymus	thymus
22	chr15:75709000-75723200	Strong transcription	Dnd41	blood
23	chr15:75709400-75723200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:75709800-75723000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:75710000-75722800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:75710000-75723000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:75710200-75722600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:75710200-75722800	Strong transcription	Fetal Intestine Large	intestine
29	chr15:75710400-75722400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:75710600-75722800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:75710800-75722800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr15:75710800-75722800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:75711800-75719600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:75712400-75720600	Weak transcription	NHDF-Ad	bronchial
35	chr15:75713200-75720600	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:75713200-75722800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:75713200-75731600	Weak transcription	Stomach Mucosa	stomach
38	chr15:75714400-75722800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:75714400-75722800	Strong transcription	Fetal Stomach	stomach
40	chr15:75714400-75723400	Strong transcription	Fetal Intestine Small	intestine
41	chr15:75715000-75719000	Weak transcription	HSMM	muscle
42	chr15:75715200-75720400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:75715200-75720400	Weak transcription	HMEC	breast
44	chr15:75715200-75720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:75715200-75721000	Weak transcription	NH-A	brain
46	chr15:75715200-75735400	Weak transcription	Colonic Mucosa	Colon
47	chr15:75715400-75720400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:75715400-75720400	Weak transcription	Brain Substantia Nigra	brain
49	chr15:75715400-75720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:75715400-75720400	Weak transcription	HSMMtube	muscle

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