Variant report

Variant	rs10074694
Chromosome Location	chr5:96137140-96137141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:96137039-96137210	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr5:96136999-96137163	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96129620..96132075-chr5:96136043..96138068,3	MCF-7	breast:
2	chr5:96125568..96129168-chr5:96132966..96137339,5	K562	blood:

Variant related genes	Relation type
ENSG00000272109	TF binding region
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050860	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10062964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154629	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13160231	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13168673	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170045	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173167	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173351	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13178387	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13185488	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186739	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17482078	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2013633	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013717	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124921	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287987	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513759	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35983588	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71630754	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	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
12	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10074694	ERAP1	cis	Muscle Skeletal	GTEx
rs10074694	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:96098000-96137600	Strong transcription	Fetal Thymus	thymus
4	chr5:96107800-96138200	Strong transcription	GM12878-XiMat	blood
5	chr5:96113800-96137200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:96115200-96141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:96115400-96142000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:96116200-96141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:96119000-96142000	Weak transcription	A549	lung
10	chr5:96123800-96137200	Strong transcription	Adipose Nuclei	Adipose
11	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:96127000-96140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:96127000-96142600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:96127000-96142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:96127200-96137400	Strong transcription	Placenta	Placenta
16	chr5:96127200-96139600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:96127200-96139800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:96127400-96142600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:96127400-96142600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:96127400-96142600	Weak transcription	NH-A	brain
21	chr5:96127600-96141600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:96127600-96142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:96128400-96137400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:96128800-96137200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:96129000-96137400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:96129400-96137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:96129400-96137200	Strong transcription	Lung	lung
28	chr5:96129400-96137400	Strong transcription	Left Ventricle	heart
29	chr5:96129600-96137400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:96130000-96137200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:96130000-96137200	Strong transcription	Spleen	Spleen
32	chr5:96130000-96137400	Strong transcription	Fetal Stomach	stomach
33	chr5:96131400-96137200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:96131400-96138400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:96131400-96138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:96132200-96137200	Strong transcription	Thymus	Thymus
37	chr5:96132200-96141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:96132200-96142800	Weak transcription	HSMM	muscle
39	chr5:96132400-96137400	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:96132600-96138400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:96132600-96139000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:96132600-96142000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:96132600-96142600	Weak transcription	Fetal Brain Female	brain
44	chr5:96132800-96141800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:96132800-96142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:96133000-96137400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:96133000-96138400	Weak transcription	Esophagus	oesophagus
48	chr5:96133000-96138600	Weak transcription	Right Ventricle	heart
49	chr5:96133000-96139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:96133000-96139200	Weak transcription	NHLF	lung

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