Variant report

Variant	rs1470025
Chromosome Location	chr5:79422429-79422430
allele	C/T
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	JUND	chr5:79421029-79422566	GM12878	blood:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421846 chr5:79421835-79421847
2	RCOR1	chr5:79420630-79422579	GM12878	blood:	n/a	n/a
3	FOXM1	chr5:79420863-79422481	GM12878	blood:	n/a	n/a
4	CHD1	chr5:79421059-79422462	GM12878	blood:	n/a	n/a
5	RELA	chr5:79420526-79422445	GM19099	blood:	n/a	n/a
6	TBP	chr5:79421086-79422455	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:79420700-79422430	GM12878	blood:	n/a	chr5:79420861-79420870 chr5:79420860-79420869 chr5:79420861-79420870 chr5:79420859-79420872
8	CUX1	chr5:79421116-79422469	GM12878	blood:	n/a	n/a
9	MTA3	chr5:79420685-79422477	GM12878	blood:	n/a	n/a
10	BATF	chr5:79421593-79422440	GM12878	blood:	n/a	n/a
11	SPI1	chr5:79420891-79422558	GM12878	blood:	n/a	n/a
12	RUNX3	chr5:79420750-79422570	GM12878	blood:	n/a	chr5:79422238-79422247 chr5:79422238-79422247
13	ATF2	chr5:79420979-79422560	GM12878	blood:	n/a	n/a
14	NFIC	chr5:79420777-79422612	GM12878	blood:	n/a	n/a
15	EP300	chr5:79420983-79422530	GM12878	blood:	n/a	chr5:79421837-79421846 chr5:79421836-79421845
16	RFX5	chr5:79422092-79422433	GM12878	blood:	n/a	n/a
17	MTA3	chr5:79421058-79422486	GM12878	blood:	n/a	n/a
18	MXI1	chr5:79420454-79422432	GM12878	blood:	n/a	n/a
19	MEF2A	chr5:79421461-79422461	GM12878	blood:	n/a	n/a
20	IKZF1	chr5:79420841-79422472	GM12878	blood:	n/a	n/a
21	EP300	chr5:79420894-79422593	GM12878	blood:	n/a	chr5:79421837-79421846 chr5:79421836-79421845
22	ZNF384	chr5:79422233-79422456	GM12878	blood:	n/a	n/a
23	SMC3	chr5:79421121-79422449	GM12878	blood:	n/a	chr5:79422199-79422207
24	CEBPB	chr5:79420915-79422512	GM12878	blood:	n/a	n/a
25	NFIC	chr5:79420991-79422532	GM12878	blood:	n/a	n/a
26	EBF1	chr5:79421067-79422438	GM12878	blood:	n/a	n/a
27	EP300	chr5:79420750-79422546	GM12878	blood:	n/a	chr5:79421837-79421846 chr5:79421836-79421845
28	CHD2	chr5:79420965-79422471	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79414738..79417325-chr5:79420437..79423118,2	K562	blood:

Variant related genes	Relation type
ENSG00000251675	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12518629	0.91[EUR][1000 genomes]
rs12520301	0.82[ASN][1000 genomes]
rs2164993	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2405135	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs35700898	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4703799	0.89[ASN][1000 genomes]
rs4703800	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703802	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4703803	0.96[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs4704610	0.92[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4704615	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4704617	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4704619	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs6891705	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6893919	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
5	chr5:79417400-79425400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:79417400-79430400	Weak transcription	Dnd41	blood
7	chr5:79418200-79424000	Weak transcription	Fetal Stomach	stomach
8	chr5:79418600-79423200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:79419400-79423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:79419600-79423000	Genic enhancers	Primary T cells from cord blood	blood
11	chr5:79419600-79423000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:79419600-79435200	Weak transcription	Liver	Liver
13	chr5:79420400-79423200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:79420600-79422600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:79420600-79424000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:79420800-79424000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:79420800-79437000	Weak transcription	Lung	lung
18	chr5:79421000-79423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
20	chr5:79421200-79424000	Weak transcription	Placenta	Placenta
21	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:79421400-79422600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:79421400-79423000	Enhancers	HSMM	muscle
25	chr5:79421400-79423400	Enhancers	HSMMtube	muscle
26	chr5:79421400-79424600	Enhancers	NHDF-Ad	bronchial
27	chr5:79421600-79422600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:79421600-79423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:79421600-79423000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:79421600-79423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:79421600-79424000	Weak transcription	Fetal Intestine Large	intestine
32	chr5:79421600-79428600	Weak transcription	Thymus	Thymus
33	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
35	chr5:79421800-79423200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:79421800-79423400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:79421800-79424400	Enhancers	Osteobl	bone
38	chr5:79421800-79427000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:79421800-79430800	Weak transcription	Spleen	Spleen
40	chr5:79422000-79422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:79422000-79423000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:79422000-79423000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:79422000-79424000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:79422000-79424400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:79422200-79422800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:79422200-79423400	Enhancers	GM12878-XiMat	blood
47	chr5:79422200-79427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:79422200-79429600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:79422400-79422600	Enhancers	Fetal Kidney	kidney
50	chr5:79422400-79422600	Enhancers	NH-A	brain

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