Variant report

Variant	rs3777167
Chromosome Location	chr5:95286017-95286018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95282858..95287226-chr5:95287357..95291460,4	MCF-7	breast:
2	chr5:95284805..95286720-chr5:95295035..95296550,2	MCF-7	breast:
3	chr5:95285461..95287509-chr5:95291864..95293445,2	MCF-7	breast:
4	chr5:95272618..95275010-chr5:95285327..95286993,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10052503	0.84[CEU][hapmap];0.84[YRI][hapmap];0.84[EUR][1000 genomes]
rs10073752	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10515232	0.84[CEU][hapmap]
rs11135441	0.80[CEU][hapmap];0.91[MEX][hapmap]
rs12055262	0.81[EUR][1000 genomes]
rs17085333	0.84[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs1862313	0.81[EUR][1000 genomes]
rs2112566	0.83[EUR][1000 genomes]
rs2161318	0.83[ASW][hapmap];0.84[CEU][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2546199	0.83[ASW][hapmap];0.83[CEU][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3734131	0.83[EUR][1000 genomes]
rs3777162	0.84[CEU][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs3777163	0.83[CEU][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs3777164	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777165	0.84[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs3777166	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3777168	0.83[EUR][1000 genomes]
rs3777171	0.84[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3777173	0.84[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3777175	0.84[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs3777178	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3777179	0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs3777207	0.86[TSI][hapmap]
rs4642392	0.86[LWK][hapmap]
rs55841351	0.83[EUR][1000 genomes]
rs56002885	0.81[EUR][1000 genomes]
rs57243277	0.83[EUR][1000 genomes]
rs57595413	0.83[EUR][1000 genomes]
rs6556894	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6861531	0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs6877821	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6881355	0.81[EUR][1000 genomes]
rs6881872	0.84[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6883880	0.81[EUR][1000 genomes]
rs6894651	0.83[EUR][1000 genomes]
rs6898371	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6898399	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7700895	0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7705279	0.84[CEU][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs7705720	0.83[EUR][1000 genomes]
rs7724599	0.84[CEU][hapmap]
rs918629	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3777167	ERAP1	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:95262200-95295400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:95264800-95293800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:95272800-95291200	Weak transcription	NH-A	brain
5	chr5:95273000-95287600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:95273000-95291200	Weak transcription	HSMMtube	muscle
7	chr5:95274800-95292200	Weak transcription	Placenta	Placenta
8	chr5:95275400-95291400	Weak transcription	NHDF-Ad	bronchial
9	chr5:95277000-95290800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:95277200-95291600	Weak transcription	Ovary	ovary
11	chr5:95277400-95286400	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:95277600-95287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:95277800-95291600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:95278000-95287400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:95278000-95292200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:95278400-95286200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:95281000-95290800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:95281000-95291600	Weak transcription	Aorta	Aorta
19	chr5:95281000-95291600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:95281000-95294000	Weak transcription	Esophagus	oesophagus
21	chr5:95281200-95286800	Weak transcription	Psoas Muscle	Psoas
22	chr5:95282000-95290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:95282200-95287400	Weak transcription	NHLF	lung
24	chr5:95282200-95290400	Weak transcription	Left Ventricle	heart
25	chr5:95282400-95287600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:95282400-95290400	Weak transcription	Right Atrium	heart
27	chr5:95282400-95291000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:95282400-95291200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:95282400-95294000	Weak transcription	Pancreas	Pancrea
30	chr5:95282600-95290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:95282600-95294000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:95282800-95290600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:95284000-95290800	Weak transcription	Small Intestine	intestine
34	chr5:95284200-95286400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:95284400-95286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:95284400-95286400	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:95284400-95286400	Enhancers	HepG2	liver
38	chr5:95284600-95287400	Weak transcription	HSMM	muscle
39	chr5:95284600-95295200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:95284800-95286200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:95284800-95286400	Enhancers	Brain Hippocampus Middle	brain
42	chr5:95284800-95292000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:95285000-95286600	Enhancers	NHEK	skin
44	chr5:95285200-95286200	Enhancers	Fetal Heart	heart
45	chr5:95285200-95287400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:95285400-95286200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:95285600-95286200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:95285600-95286200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:95285600-95286200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:95285600-95286400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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