Variant report

Variant	rs4405604
Chromosome Location	chr17:20837061-20837062
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	SPI1	chr17:20836972-20837148	K562	blood:	n/a	n/a
2	SPI1	chr17:20836821-20837240	HL-60	blood:	n/a	chr17:20836839-20836848 chr17:20836837-20836850

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20836869..20840041-chr17:20841054..20844534,3	K562	blood:
2	chr17:20831498..20833246-chr17:20835693..20837692,2	K562	blood:

Variant related genes	Relation type
ENSG00000264660	TF binding region
ENSG00000233098	TF binding region
ENSG00000233098	Chromatin interaction
ENSG00000265099	Chromatin interaction
ENSG00000264660	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12602584	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap]
rs16962489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16962515	1.00[AFR][1000 genomes]
rs16962541	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap]
rs4465653	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60606678	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61203188	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67192961	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67851864	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised 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	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20826000-20837800	Weak transcription	K562	blood
2	chr17:20826600-20837200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:20827200-20856200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:20829400-20840600	Weak transcription	Ovary	ovary
5	chr17:20830000-20837600	Weak transcription	NH-A	brain
6	chr17:20831000-20846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:20831000-20847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:20831200-20838600	Weak transcription	NHLF	lung
9	chr17:20831400-20847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:20831600-20845800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:20832400-20847800	Weak transcription	Gastric	stomach
12	chr17:20834000-20837200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:20834000-20837200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:20834000-20837200	Weak transcription	NHDF-Ad	bronchial
15	chr17:20834000-20837200	Weak transcription	Osteobl	bone
16	chr17:20834000-20838000	Weak transcription	HSMM	muscle
17	chr17:20834000-20838600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:20834000-20838800	Weak transcription	HSMMtube	muscle
19	chr17:20834200-20846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:20834600-20837800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr17:20834600-20847200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:20834600-20847800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:20835200-20841400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:20835600-20837200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:20835600-20839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:20835600-20840400	Weak transcription	Fetal Stomach	stomach
27	chr17:20835600-20869000	Weak transcription	HepG2	liver
28	chr17:20835800-20837200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:20835800-20840800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:20836800-20841600	Enhancers	Colon Smooth Muscle	Colon
31	chr17:20837000-20837800	Enhancers	Rectal Smooth Muscle	rectum
32	chr17:20837000-20838600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:20837000-20840800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr17:20837000-20841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:20837000-20841800	Enhancers	Hela-S3	cervix

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