Variant report

Variant	rs8065730
Chromosome Location	chr17:46604814-46604815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46603138..46605364-chr20:58053289..58056014,2	MCF-7	breast:
2	chr17:46599448..46601995-chr17:46604125..46606686,2	MCF-7	breast:
3	chr17:46597156..46601458-chr17:46601809..46606314,7	MCF-7	breast:
4	chr17:46568782..46571366-chr17:46604713..46607657,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11650389	1.00[EUR][1000 genomes]
rs11651053	0.87[EUR][1000 genomes]
rs11652654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653644	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655171	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655546	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11657206	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2740759	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs59709353	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209524	1.00[CEU][hapmap]
rs73985866	0.87[EUR][1000 genomes]
rs7406478	1.00[CEU][hapmap]
rs9747570	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46600400-46605600	Weak transcription	HSMMtube	muscle
2	chr17:46601200-46605600	Weak transcription	K562	blood
3	chr17:46601800-46605600	Weak transcription	A549	lung
4	chr17:46603600-46605200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr17:46603600-46609000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:46603600-46609200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:46603800-46605000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:46604000-46605000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:46604000-46605000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46604000-46605400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr17:46604000-46606000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr17:46604200-46605000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:46604200-46605000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:46604200-46605000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr17:46604200-46605200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr17:46604200-46605200	Weak transcription	Fetal Kidney	kidney
17	chr17:46604400-46605000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:46604400-46605000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:46604400-46605000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46604400-46605000	Bivalent Enhancer	Fetal Thymus	thymus
21	chr17:46604400-46605200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr17:46604400-46605200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr17:46604400-46605600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr17:46604600-46605000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46604600-46605200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr17:46604600-46605200	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:46604600-46605200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:46604600-46605200	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr17:46604600-46605200	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr17:46604600-46605400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:46604800-46605000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr17:46604800-46605000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr17:46604800-46605000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:46604800-46605000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:46604800-46605000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr17:46604800-46605000	Bivalent Enhancer	Fetal Lung	lung
37	chr17:46604800-46605000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr17:46604800-46605200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:46604800-46605400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:46604800-46606000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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