Variant report

Variant	rs73985849
Chromosome Location	chr17:46591704-46591705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr17:46583694..46585677-chr17:46589290..46592117,3	K562	blood:
4	chr17:46590407..46593001-chr17:46595445..46597263,2	MCF-7	breast:
5	chr17:46590857..46593060-chr17:46597939..46599663,2	K562	blood:
6	chr17:46578669..46581323-chr17:46590008..46592021,2	MCF-7	breast:
7	chr17:46439319..46441570-chr17:46591385..46593925,2	K562	blood:
8	chr17:46589537..46591935-chr17:46661739..46663956,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12453445	1.00[AMR][1000 genomes]
rs34768319	1.00[AMR][1000 genomes]
rs4793882	1.00[AMR][1000 genomes]
rs4793883	1.00[AMR][1000 genomes]
rs56872371	1.00[AMR][1000 genomes]
rs58067327	0.97[AFR][1000 genomes]
rs58218522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59555055	0.97[AFR][1000 genomes]
rs59934148	1.00[AFR][1000 genomes]
rs60681913	1.00[AFR][1000 genomes]
rs61185573	1.00[AFR][1000 genomes]
rs61476017	1.00[AFR][1000 genomes]
rs61648156	1.00[AMR][1000 genomes]
rs71377355	1.00[AMR][1000 genomes]
rs71377361	1.00[AMR][1000 genomes]
rs73985851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985874	1.00[AMR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46587800-46591800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr17:46589200-46593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:46590200-46592000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr17:46590200-46592200	Flanking Active TSS	GM12878-XiMat	blood
5	chr17:46590400-46592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:46590400-46592200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:46590400-46592200	Enhancers	A549	lung
8	chr17:46590600-46592000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:46590600-46592000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:46590600-46592000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:46590800-46592000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr17:46590800-46599600	Weak transcription	Right Atrium	heart
13	chr17:46591000-46592000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr17:46591000-46592200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr17:46591000-46592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:46591200-46591800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:46591200-46591800	Bivalent Enhancer	Fetal Lung	lung
18	chr17:46591200-46592000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:46591200-46592000	Enhancers	K562	blood
20	chr17:46591200-46592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:46591200-46599400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:46591400-46592200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:46591400-46592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:46591600-46591800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr17:46591600-46591800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr17:46591600-46591800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:46591600-46591800	Bivalent Enhancer	NHLF	lung
28	chr17:46591600-46592600	Enhancers	HSMM	muscle

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