Variant report

Variant	rs7223415
Chromosome Location	chr17:46592179-46592180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46582101..46583693-chr17:46591339..46593282,2	MCF-7	breast:
2	chr17:46585053..46590191-chr17:46590759..46593936,5	MCF-7	breast:
3	chr17:46590407..46593001-chr17:46595445..46597263,2	MCF-7	breast:
4	chr17:46590857..46593060-chr17:46597939..46599663,2	K562	blood:
5	chr17:46439319..46441570-chr17:46591385..46593925,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28699313	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35132860	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274478	1.00[ASN][1000 genomes]
rs57183284	1.00[ASN][1000 genomes]
rs9893371	1.00[ASN][1000 genomes]
rs9893775	0.90[EUR][1000 genomes]
rs9893895	0.81[EUR][1000 genomes]
rs9898155	1.00[ASN][1000 genomes]
rs9899351	0.90[EUR][1000 genomes]
rs9906289	0.81[EUR][1000 genomes]
rs9908329	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9910559	0.86[EUR][1000 genomes]
rs9913141	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46589200-46593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:46590200-46592200	Flanking Active TSS	GM12878-XiMat	blood
3	chr17:46590400-46592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:46590400-46592200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:46590400-46592200	Enhancers	A549	lung
6	chr17:46590800-46599600	Weak transcription	Right Atrium	heart
7	chr17:46591000-46592200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr17:46591000-46592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46591200-46592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46591200-46599400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:46591400-46592200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr17:46591400-46592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:46591600-46592600	Enhancers	HSMM	muscle
14	chr17:46591800-46592400	Bivalent Enhancer	NH-A	brain
15	chr17:46591800-46592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:46592000-46592200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr17:46592000-46592400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:46592000-46592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:46592000-46592800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:46592000-46593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:46592000-46596800	Weak transcription	K562	blood
22	chr17:46592000-46604000	Weak transcription	Placenta Amnion	Placenta Amnion

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