Variant report

Variant	rs13361148
Chromosome Location	chr5:179012968-179012969
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	CTCF	chr5:179012920-179013070	BE2_C	brain:	n/a	n/a
2	SPI1	chr5:179012868-179013498	HL-60	blood:	n/a	chr5:179013166-179013173 chr5:179013164-179013177
3	CTCF	chr5:179012840-179012990	HBMEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:179012961-179013211	K562	blood:	n/a	n/a
5	SPI1	chr5:179012959-179013363	HL-60	blood:	n/a	chr5:179013166-179013173 chr5:179013164-179013177
6	MYC	chr5:179012966-179013220	K562	blood:	n/a	n/a
7	CTCF	chr5:179012900-179013050	HCPEpiC	choroid plexus:	n/a	n/a
8	BHLHE40	chr5:179012837-179013284	K562	blood:	n/a	n/a
9	CTCF	chr5:179012860-179013010	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178977341..178979490-chr5:179011302..179013107,2	MCF-7	breast:
2	chr5:179011616..179013589-chr5:179034982..179036835,2	K562	blood:
3	chr5:179012467..179014455-chr5:179037577..179039741,2	K562	blood:
4	chr5:179011326..179015421-chr5:179015501..179018945,4	MCF-7	breast:

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10036118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10056863	0.80[JPT][hapmap]
rs10057868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10059134	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10064557	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249645	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11743261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12522890	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12719865	0.81[JPT][hapmap]
rs28510162	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28607444	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28611242	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4075890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4075891	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4701133	0.82[CHB][hapmap]
rs4701134	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601052	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895677	0.80[JPT][hapmap]
rs7378831	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7448707	0.82[YRI][hapmap]
rs7706275	0.80[JPT][hapmap]
rs9329083	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9329084	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
8	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
3	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
5	chr5:178987800-179017000	Strong transcription	Osteobl	bone
6	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
7	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:178991200-179016600	Weak transcription	Stomach Mucosa	stomach
9	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178996600-179013200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:178997600-179020200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:178999800-179013000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:178999800-179013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:179000000-179013000	Weak transcription	Psoas Muscle	Psoas
17	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:179000400-179022800	Weak transcription	Fetal Heart	heart
19	chr5:179002200-179017000	Strong transcription	Brain Germinal Matrix	brain
20	chr5:179002200-179022800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
22	chr5:179002600-179013200	Weak transcription	K562	blood
23	chr5:179003200-179013000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:179003200-179015200	Weak transcription	Fetal Brain Male	brain
25	chr5:179003200-179016400	Weak transcription	HSMMtube	muscle
26	chr5:179003400-179013000	Weak transcription	Small Intestine	intestine
27	chr5:179004000-179013600	Weak transcription	NHDF-Ad	bronchial
28	chr5:179004800-179013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:179005000-179032400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:179006000-179013000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:179006200-179019600	Weak transcription	Hela-S3	cervix
32	chr5:179007400-179013000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr5:179007400-179016800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:179007400-179030200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
41	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
43	chr5:179008200-179013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:179008200-179015600	Strong transcription	Ovary	ovary
45	chr5:179008200-179032800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:179008400-179013000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:179008400-179019600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:179008600-179013000	Weak transcription	NH-A	brain
49	chr5:179008600-179013200	Weak transcription	HUVEC	blood vessel
50	chr5:179008800-179013000	Weak transcription	Brain Hippocampus Middle	brain

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