Variant report

Variant	rs61557265
Chromosome Location	chr5:76007287-76007288
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	NFIC	chr5:76006599-76007702	GM12878	blood:	n/a	n/a
2	FOS	chr5:76006498-76007740	MCF10A-Er-Src	breast:	n/a	chr5:76006712-76006721 chr5:76006925-76006936 chr5:76006925-76006937 chr5:76006926-76006935 chr5:76006927-76006936 chr5:76006927-76006934 chr5:76006927-76006935
3	STAT3	chr5:76006418-76007973	MCF10A-Er-Src	breast:	n/a	chr5:76007032-76007046 chr5:76006927-76006936 chr5:76006926-76006935 chr5:76007577-76007588
4	STAT3	chr5:76006624-76007775	MCF10A-Er-Src	breast:	n/a	chr5:76007032-76007046 chr5:76006927-76006936 chr5:76006926-76006935 chr5:76007577-76007588
5	FOS	chr5:76006497-76007737	MCF10A-Er-Src	breast:	n/a	chr5:76006712-76006721 chr5:76006925-76006936 chr5:76006925-76006937 chr5:76006926-76006935 chr5:76006927-76006936 chr5:76006927-76006934 chr5:76006927-76006935
6	E2F4	chr5:76007058-76007415	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr5:76006380-76007690	MCF10A-Er-Src	breast:	n/a	chr5:76006926-76006935
8	NFATC1	chr5:76006771-76007313	GM12878	blood:	n/a	n/a
9	STAT3	chr5:76006579-76008129	MCF10A-Er-Src	breast:	n/a	chr5:76007032-76007046 chr5:76006927-76006936 chr5:76006926-76006935 chr5:76007577-76007588
10	GATA3	chr5:76006739-76007392	SK-N-SH	brain:	n/a	chr5:76006928-76006937
11	MEF2A	chr5:76006834-76007287	GM12878	blood:	n/a	chr5:76007040-76007055 chr5:76007039-76007060 chr5:76007039-76007060
12	FOXM1	chr5:76006720-76007598	GM12878	blood:	n/a	n/a
13	BATF	chr5:76007285-76007597	GM12878	blood:	n/a	n/a
14	TCF12	chr5:76007279-76007591	GM12878	blood:	n/a	n/a
15	MTA3	chr5:76006665-76007548	GM12878	blood:	n/a	n/a
16	RUNX3	chr5:76006655-76007678	GM12878	blood:	n/a	n/a
17	EP300	chr5:76007245-76007614	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:76005988-76008235	MCF10A-Er-Src	breast:	n/a	n/a
19	IKZF1	chr5:76006773-76007628	GM12878	blood:	n/a	n/a
20	RUNX3	chr5:76007210-76007608	GM12878	blood:	n/a	n/a
21	FOS	chr5:76006609-76007699	MCF10A-Er-Src	breast:	n/a	chr5:76006712-76006721 chr5:76006925-76006936 chr5:76006925-76006937 chr5:76006926-76006935 chr5:76006927-76006936 chr5:76006927-76006934 chr5:76006927-76006935
22	TCF3	chr5:76007247-76007712	GM12878	blood:	n/a	n/a
23	TCF12	chr5:76006452-76007323	SK-N-SH	brain:	n/a	n/a
24	EP300	chr5:76006827-76007331	GM12878	blood:	n/a	chr5:76006927-76006936 chr5:76007131-76007141 chr5:76006961-76006975 chr5:76006926-76006935
25	MYC	chr5:76006676-76007870	MCF10A-Er-Src	breast:	n/a	chr5:76006926-76006935
26	NFIC	chr5:76006620-76007307	SK-N-SH	brain:	n/a	n/a
27	STAT3	chr5:76006543-76007774	MCF10A-Er-Src	breast:	n/a	chr5:76007032-76007046 chr5:76006927-76006936 chr5:76006926-76006935 chr5:76007577-76007588
28	JUND	chr5:76006321-76007577	SK-N-SH	brain:	n/a	chr5:76006712-76006721 chr5:76006925-76006937 chr5:76006926-76006935 chr5:76006927-76006936 chr5:76006927-76006934 chr5:76006927-76006935
29	POLR2A	chr5:76006763-76008035	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr5:76006641-76007336	SK-N-SH	brain:	n/a	chr5:76006927-76006936 chr5:76007131-76007141 chr5:76006961-76006975 chr5:76006926-76006935 chr5:76006710-76006719

Variant related genes	Relation type
F2R	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17681908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2227746	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2227748	0.83[AFR][1000 genomes]
rs2227749	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2227753	0.82[ASN][1000 genomes]
rs2227757	0.86[ASN][1000 genomes]
rs61370375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73127576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127587	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:75988800-76011000	Weak transcription	Lung	lung
3	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:75997200-76010400	Weak transcription	HepG2	liver
6	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:75997800-76010800	Weak transcription	Gastric	stomach
8	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
9	chr5:75998000-76007400	Weak transcription	Fetal Stomach	stomach
10	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:76001800-76010200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:76003000-76010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:76003400-76008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:76003400-76008800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:76004200-76007600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:76004200-76007600	Enhancers	NHLF	lung
22	chr5:76004400-76007600	Weak transcription	Primary B cells from cord blood	blood
23	chr5:76004400-76010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:76004600-76007400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:76004600-76008000	Weak transcription	Primary T cells from cord blood	blood
26	chr5:76004600-76010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:76004600-76010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:76004800-76007400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:76004800-76007400	Enhancers	Osteobl	bone
30	chr5:76004800-76007800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:76004800-76010600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:76005000-76007600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:76005000-76007600	Enhancers	NH-A	brain
34	chr5:76005000-76009000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:76005000-76010400	Weak transcription	Placenta	Placenta
36	chr5:76005200-76007400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:76005200-76010000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:76005200-76010600	Weak transcription	Liver	Liver
39	chr5:76005600-76009200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:76005800-76007400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:76005800-76010000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:76006000-76007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:76006000-76007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:76006200-76007600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:76006200-76010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:76006400-76008200	Enhancers	GM12878-XiMat	blood
47	chr5:76006600-76007400	Flanking Active TSS	NHEK	skin
48	chr5:76006800-76007400	Flanking Active TSS	HMEC	breast
49	chr5:76006800-76007600	Enhancers	NHDF-Ad	bronchial
50	chr5:76006800-76007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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