Variant report

Variant	rs11204323
Chromosome Location	chr17:20837900-20837901
allele	G/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	BACH1	chr17:20837612-20837976	K562	blood:	n/a	n/a
2	MAFK	chr17:20837594-20838008	K562	blood:	n/a	chr17:20837781-20837796
3	IRF1	chr17:20837506-20838126	K562	blood:	n/a	n/a
4	MAFF	chr17:20837587-20838027	K562	blood:	n/a	chr17:20837779-20837797
5	MAFK	chr17:20837603-20837973	HepG2	liver:	n/a	chr17:20837781-20837796
6	MAFF	chr17:20837617-20837970	HepG2	liver:	n/a	chr17:20837779-20837797
7	MAFK	chr17:20837567-20837988	Hela-S3	cervix:	n/a	chr17:20837781-20837796
8	E2F4	chr17:20837770-20837971	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr17:20837536-20837971	HepG2	liver:	n/a	chr17:20837781-20837796
10	MAFK	chr17:20837600-20837977	IMR90	lung:	n/a	chr17:20837781-20837796
11	MAFK	chr17:20837430-20837973	H1-hESC	embryonic stem cell:	n/a	chr17:20837781-20837796
12	BACH1	chr17:20837629-20837975	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr17:20837633-20837951	K562	blood:	n/a	n/a

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

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10445414	0.80[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11653586	0.80[CEU][hapmap]
rs4280307	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4452013	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6587100	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6587101	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587102	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7207876	0.90[JPT][hapmap]
rs7215428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217110	0.82[ASN][1000 genomes]
rs7222400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7224181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7501651	0.84[CEU][hapmap]
rs8067705	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8073343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8075403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8075712	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9709208	0.81[AMR][1000 genomes]
rs9897888	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9902946	0.80[CEU][hapmap]
rs9911380	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9912200	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9912643	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20827200-20856200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20829400-20840600	Weak transcription	Ovary	ovary
3	chr17:20831000-20846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:20831000-20847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20831200-20838600	Weak transcription	NHLF	lung
6	chr17:20831400-20847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:20831600-20845800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:20832400-20847800	Weak transcription	Gastric	stomach
9	chr17:20834000-20838000	Weak transcription	HSMM	muscle
10	chr17:20834000-20838600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:20834000-20838800	Weak transcription	HSMMtube	muscle
12	chr17:20834200-20846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:20834600-20847200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:20834600-20847800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:20835200-20841400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:20835600-20839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:20835600-20840400	Weak transcription	Fetal Stomach	stomach
18	chr17:20835600-20869000	Weak transcription	HepG2	liver
19	chr17:20835800-20840800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:20836800-20841600	Enhancers	Colon Smooth Muscle	Colon
21	chr17:20837000-20838600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:20837000-20840800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:20837000-20841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:20837000-20841800	Enhancers	Hela-S3	cervix
25	chr17:20837200-20838800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:20837200-20838800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:20837200-20838800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:20837200-20838800	Enhancers	Osteobl	bone
29	chr17:20837200-20839000	Enhancers	A549	lung
30	chr17:20837200-20839000	Enhancers	NHDF-Ad	bronchial
31	chr17:20837200-20839200	Enhancers	HUVEC	blood vessel
32	chr17:20837200-20840800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:20837200-20841400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:20837400-20838000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:20837400-20840800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:20837400-20841200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:20837600-20838200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:20837600-20838600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:20837600-20838800	Enhancers	NH-A	brain
40	chr17:20837600-20841400	Enhancers	HMEC	breast
41	chr17:20837800-20838000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:20837800-20838200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr17:20837800-20838600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr17:20837800-20838600	Enhancers	K562	blood
45	chr17:20837800-20840200	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links