Variant report

Variant	rs3806936
Chromosome Location	chr5:96213607-96213608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:96213560-96213895	HL-60	blood:	n/a	chr5:96213681-96213694

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
2	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
3	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
4	chr5:96212214..96214084-chr5:96217203..96219457,3	K562	blood:
5	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
6	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
7	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:

No data

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000247121	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11135481	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1134681	0.83[ASN][1000 genomes]
rs11746397	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17087180	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17515806	0.83[ASN][1000 genomes]
rs17550822	0.83[ASN][1000 genomes]
rs27731	1.00[JPT][hapmap]
rs3733904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733905	0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3797787	1.00[JPT][hapmap]
rs3797792	1.00[JPT][hapmap]
rs3806939	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3806941	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3806942	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3806943	0.83[ASN][1000 genomes]
rs3806944	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3822679	1.00[JPT][hapmap]
rs3822687	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4397149	0.83[ASN][1000 genomes]
rs4509047	0.81[ASN][1000 genomes]
rs62376451	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62376452	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6862437	0.83[ASN][1000 genomes]
rs6883674	0.83[ASN][1000 genomes]
rs6883859	0.83[ASN][1000 genomes]
rs7714122	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7721014	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7728999	0.83[ASN][1000 genomes]
rs7729489	0.83[ASN][1000 genomes]
rs7733301	0.86[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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
11	esv3342679	chr5:96213254-96213770	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3806936	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs3806936	ERAP2	cis	Whole Blood	GTEx
rs3806936	ERAP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211400-96213800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:96212000-96213800	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr5:96212000-96213800	Active TSS	Thymus	Thymus
5	chr5:96212000-96214000	Active TSS	GM12878-XiMat	blood
6	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:96212600-96213800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr5:96212600-96215400	Weak transcription	Spleen	Spleen
10	chr5:96212600-96215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:96212600-96217000	Weak transcription	Gastric	stomach
12	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
13	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:96212800-96213800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:96212800-96215400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
18	chr5:96213000-96213800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr5:96213000-96213800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr5:96213000-96213800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr5:96213000-96214000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr5:96213000-96214200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:96213000-96214200	Weak transcription	Esophagus	oesophagus
24	chr5:96213000-96214400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr5:96213000-96214400	Flanking Active TSS	Dnd41	blood
26	chr5:96213000-96215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:96213000-96215400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:96213000-96215400	Weak transcription	Left Ventricle	heart
29	chr5:96213000-96216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:96213000-96217000	Weak transcription	Lung	lung
31	chr5:96213000-96217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
33	chr5:96213200-96213800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:96213200-96213800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:96213200-96213800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:96213200-96214200	Weak transcription	Small Intestine	intestine
37	chr5:96213200-96214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:96213200-96214400	Enhancers	Fetal Intestine Large	intestine
39	chr5:96213200-96215200	Weak transcription	Stomach Mucosa	stomach
40	chr5:96213200-96215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:96213200-96215600	Weak transcription	NH-A	brain
42	chr5:96213200-96215800	Weak transcription	Placenta	Placenta
43	chr5:96213200-96217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:96213200-96217000	Weak transcription	Psoas Muscle	Psoas
45	chr5:96213200-96217200	Weak transcription	HSMM	muscle
46	chr5:96213200-96217400	Weak transcription	Right Ventricle	heart
47	chr5:96213200-96221600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:96213200-96225200	Weak transcription	Ovary	ovary
49	chr5:96213200-96229200	Weak transcription	Aorta	Aorta
50	chr5:96213400-96213800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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