Variant report

Variant	rs27037
Chromosome Location	chr5:96094694-96094695
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96093830..96096336-chr5:96098370..96101209,3	K562	blood:
2	chr5:96094343..96096163-chr5:96142370..96145319,2	MCF-7	breast:
3	chr5:96093022..96094716-chr5:96270503..96272835,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs26492	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs26507	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs27038	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs27041	0.95[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs27433	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs27524	0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs27583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[ASN][1000 genomes]
rs27689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28081	0.86[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3822683	0.91[CHD][hapmap]
rs57889668	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs27037	C5orf36	cis	parietal	SCAN
rs27037	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs27037	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs27037	ERAP2	cis	lymphoblastoid	seeQTL
rs27037	ERAP2	cis	cerebellum	SCAN
rs27037	ERAP2	cis	parietal	SCAN
rs27037	ERAP1	cis	Whole Blood	GTEx
rs27037	ERAP1	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
2	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
3	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr5:96068200-96100400	Strong transcription	Liver	Liver
5	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
10	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
18	chr5:96075800-96094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:96078000-96111200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:96078600-96095000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:96079400-96094800	Strong transcription	Primary B cells from cord blood	blood
22	chr5:96079400-96096000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:96079400-96115600	Strong transcription	HMEC	breast
24	chr5:96079400-96126600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:96079600-96094800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:96079600-96112800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:96079600-96115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:96079600-96115600	Strong transcription	NHDF-Ad	bronchial
29	chr5:96079600-96123600	Strong transcription	Placenta	Placenta
30	chr5:96079600-96126400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:96079600-96126600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:96079600-96126600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:96079800-96095200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:96082000-96095800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:96082400-96098400	Weak transcription	Dnd41	blood
36	chr5:96083400-96094800	Strong transcription	Colon Smooth Muscle	Colon
37	chr5:96083800-96096000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:96083800-96108800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:96083800-96116400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr5:96085400-96098600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:96085600-96094800	Strong transcription	Colonic Mucosa	Colon
42	chr5:96086000-96094800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr5:96086200-96100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:96087200-96095200	Strong transcription	GM12878-XiMat	blood
45	chr5:96087200-96113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:96088000-96104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:96088200-96094800	Strong transcription	Fetal Intestine Large	intestine
48	chr5:96088200-96095200	Strong transcription	Adipose Nuclei	Adipose
49	chr5:96088400-96094800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:96088600-96094800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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