Variant report

Variant	rs469070
Chromosome Location	chr5:127676868-127676869
allele	C/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	FOS	chr5:127676754-127677070	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr5:127676759-127677102	HepG2	liver:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
3	MAX	chr5:127676664-127677088	NB4	blood:	n/a	n/a
4	MYC	chr5:127676750-127677076	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr5:127676771-127677102	MCF-7	breast:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
6	STAT3	chr5:127676751-127677078	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr5:127676754-127677076	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:127676844-127677055	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:127676631-127676952	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr5:127676753-127677085	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr5:127676817-127677061	A549	lung:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
12	STAT3	chr5:127676733-127677100	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:127676749-127677030	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:127676753-127677078	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr5:127676800-127677062	IMR90	lung:	n/a	chr5:127676899-127676910 chr5:127676821-127676833
16	FOS	chr5:127676753-127677128	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:127676792-127677101	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr5:127676747-127677093	Hela-S3	cervix:	n/a	chr5:127676899-127676910 chr5:127676821-127676833

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127676675..127678219-chr6:7543128..7545962,2	K562	blood:

Variant related genes	Relation type
FBN2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11955288	0.86[JPT][hapmap]
rs13189118	0.86[JPT][hapmap]
rs151987	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153995	0.82[ASN][1000 genomes]
rs171527	0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs17676538	0.86[JPT][hapmap]
rs2291628	0.86[JPT][hapmap]
rs255690	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs26024	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26378	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28114	0.90[CHB][hapmap];0.92[ASN][1000 genomes]
rs32217	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs32238	0.92[CEU][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs331071	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs331091	0.80[CHB][hapmap]
rs331099	0.83[EUR][1000 genomes]
rs39941	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs414540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs42281	0.92[CEU][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs458882	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs463035	0.85[ASN][1000 genomes]
rs467928	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs469722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586115	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs612993	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
8	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127661200-127693000	Weak transcription	NHLF	lung
10	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
11	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127662000-127681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:127664600-127678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:127664600-127682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:127668800-127681200	Weak transcription	Gastric	stomach
16	chr5:127669800-127677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:127671000-127677200	Weak transcription	Fetal Kidney	kidney
18	chr5:127671800-127681000	Weak transcription	Ovary	ovary
19	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
20	chr5:127672400-127678800	Weak transcription	HMEC	breast
21	chr5:127673200-127679800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:127673200-127683800	Strong transcription	Fetal Stomach	stomach
23	chr5:127673400-127680000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:127673400-127681200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:127673800-127677000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:127674000-127680800	Weak transcription	HUVEC	blood vessel
28	chr5:127674200-127678000	Genic enhancers	Fetal Heart	heart
29	chr5:127674600-127678200	Weak transcription	Fetal Lung	lung
30	chr5:127674800-127677400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:127674800-127684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:127675000-127677000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:127675000-127677200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:127675000-127678600	Weak transcription	A549	lung
35	chr5:127675000-127678800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:127675400-127677400	Strong transcription	Fetal Intestine Large	intestine
37	chr5:127675600-127677000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:127675600-127678000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:127675600-127678400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:127675600-127678800	Weak transcription	NHEK	skin
41	chr5:127675600-127679600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:127675600-127681200	Weak transcription	Right Atrium	heart
43	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
44	chr5:127675800-127678800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:127676400-127677600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:127676400-127677800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr5:127676600-127677400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:127676600-127677400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:127676600-127677400	Enhancers	Left Ventricle	heart
50	chr5:127676600-127677600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links