Variant report

Variant	rs8067705
Chromosome Location	chr17:20819995-20819996
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	GATA3	chr17:20819873-20820385	MCF-7	breast:	n/a	n/a
2	POLR2A	chr17:20819771-20820077	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr17:20819860-20820021	MCF10A-Er-Src	breast:	n/a	n/a
4	FAM48A	chr17:20819886-20820064	GM12878	blood:	n/a	n/a
5	IRF1	chr17:20819488-20820067	K562	blood:	n/a	chr17:20819793-20819807 chr17:20819799-20819813 chr17:20819796-20819809 chr17:20819796-20819807 chr17:20819795-20819806 chr17:20819797-20819807 chr17:20819789-20819809 chr17:20819796-20819809 chr17:20819797-20819811 chr17:20819795-20819809 chr17:20819801-20819812 chr17:20819802-20819815 chr17:20819795-20819815 chr17:20819790-20819803 chr17:20819796-20819809 chr17:20819794-20819808 chr17:20819791-20819808 chr17:20819796-20819810
6	NR2F2	chr17:20819929-20820286	MCF-7	breast:	n/a	n/a
7	CEBPB	chr17:20819982-20820308	MCF-7	breast:	n/a	chr17:20820152-20820165

No.	Distal block	Cell Line	Cell type
1	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:
2	chr17:20774807..20776983-chr17:20818893..20820623,2	K562	blood:
3	chr17:20814750..20817226-chr17:20817362..20820351,2	K562	blood:

Variant related genes	Relation type
ENSG00000233098	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10445414	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11204323	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11653586	1.00[CEU][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12450680	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4280307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4452013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587101	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66762238	0.82[ASN][1000 genomes]
rs7207876	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7215428	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7222400	0.86[GIH][hapmap];0.92[MEX][hapmap];0.81[EUR][1000 genomes]
rs7224181	0.89[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7501645	0.83[ASN][1000 genomes]
rs7501651	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs8067432	0.82[CHD][hapmap]
rs8073343	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8075403	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8075712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9709208	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9897888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902946	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs9911380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9912200	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9912643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812200-20824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20812600-20823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:20819000-20820200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:20819400-20820000	Enhancers	Small Intestine	intestine
6	chr17:20819400-20820200	Flanking Active TSS	NHEK	skin
7	chr17:20819600-20820000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:20819600-20820000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:20819600-20820000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:20819600-20820000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr17:20819600-20820000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr17:20819600-20820000	Active TSS	A549	lung
13	chr17:20819600-20820000	Active TSS	HMEC	breast
14	chr17:20819600-20820000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr17:20819600-20820000	Active TSS	Osteobl	bone
16	chr17:20819600-20820200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr17:20819600-20820200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr17:20819600-20820200	Active TSS	Adipose Nuclei	Adipose
19	chr17:20819600-20820200	Active TSS	Duodenum Mucosa	Duodenum
20	chr17:20819600-20820200	Active TSS	Stomach Mucosa	stomach
21	chr17:20819600-20820200	Active TSS	NHDF-Ad	bronchial
22	chr17:20819600-20820200	Active TSS	NHLF	lung
23	chr17:20819600-20820400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:20819800-20820000	Enhancers	Esophagus	oesophagus
25	chr17:20819800-20820000	Active TSS	Right Atrium	heart
26	chr17:20819800-20820200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr17:20819800-20820200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:20819800-20820200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:20819800-20820200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:20819800-20820200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:20819800-20820200	Enhancers	Dnd41	blood
32	chr17:20819800-20820200	Flanking Active TSS	Hela-S3	cervix
33	chr17:20819800-20820400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:20819800-20820400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links