Variant report

Variant	rs4869317
Chromosome Location	chr5:96292004-96292005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96291996..96293570-chr5:96308542..96310853,2	K562	blood:
2	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
3	chr5:96285264..96287283-chr5:96291106..96292923,2	K562	blood:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4869316	0.81[CEU][hapmap]
rs62377827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4869317	ERAP2	cis	Heart Left Ventricle	GTEx
rs4869317	ERAP2	cis	Thyroid	GTEx
rs4869317	ERAP2	cis	Whole Blood	GTEx
rs4869317	LRAP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
2	chr5:96273400-96292800	Weak transcription	K562	blood
3	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:96274600-96298400	Weak transcription	HSMM	muscle
5	chr5:96277800-96303800	Weak transcription	Pancreas	Pancrea
6	chr5:96278000-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:96278200-96292400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:96279800-96298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:96279800-96303800	Weak transcription	Esophagus	oesophagus
11	chr5:96282200-96292800	Weak transcription	NHLF	lung
12	chr5:96282200-96303800	Weak transcription	Spleen	Spleen
13	chr5:96283400-96296600	Weak transcription	NHDF-Ad	bronchial
14	chr5:96285200-96292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:96285400-96293000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:96285400-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:96285400-96304400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:96286200-96293000	Weak transcription	Thymus	Thymus
19	chr5:96286400-96303800	Weak transcription	Right Ventricle	heart
20	chr5:96287800-96292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:96288200-96293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:96288400-96303800	Weak transcription	Fetal Stomach	stomach
23	chr5:96288800-96296200	Weak transcription	Osteobl	bone
24	chr5:96288800-96296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:96289000-96292400	Weak transcription	HepG2	liver
26	chr5:96289000-96293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:96289000-96293000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:96289000-96294400	Weak transcription	Left Ventricle	heart
29	chr5:96289000-96297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:96289000-96297800	Weak transcription	Right Atrium	heart
31	chr5:96289000-96298800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:96289200-96293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:96289200-96293200	Weak transcription	Small Intestine	intestine
34	chr5:96289200-96296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96289400-96292800	Weak transcription	Psoas Muscle	Psoas
36	chr5:96289400-96292800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:96289400-96293200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:96289800-96292800	Weak transcription	Liver	Liver
39	chr5:96289800-96297600	Weak transcription	HMEC	breast
40	chr5:96289800-96297800	Weak transcription	Stomach Mucosa	stomach
41	chr5:96290000-96293200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:96290000-96294200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:96290000-96297800	Weak transcription	Fetal Kidney	kidney
44	chr5:96290000-96298800	Weak transcription	Fetal Lung	lung
45	chr5:96290200-96292200	Weak transcription	Primary B cells from cord blood	blood
46	chr5:96290200-96292200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:96290200-96292400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:96290200-96292800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:96290200-96293600	Weak transcription	NHEK	skin
50	chr5:96290200-96298200	Weak transcription	Colon Smooth Muscle	Colon

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