Variant report

Variant	rs72823528
Chromosome Location	chr17:46098944-46098945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46097069..46099255-chr17:46124273..46125905,2	MCF-7	breast:
2	chr17:45971488..45974794-chr17:46097865..46101201,4	MCF-7	breast:
3	chr17:46098397..46101046-chr17:46137783..46139576,2	K562	blood:
4	chr17:46054433..46057205-chr17:46098030..46099553,2	K562	blood:

Variant related genes	Relation type
ENSG00000266341	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12051	0.98[ASN][1000 genomes]
rs12600980	0.86[EUR][1000 genomes]
rs12601350	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12602131	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12602670	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12946143	0.89[EUR][1000 genomes]
rs1473117	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16951519	0.93[EUR][1000 genomes]
rs2023885	0.95[EUR][1000 genomes]
rs2229369	0.95[EUR][1000 genomes]
rs2240119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240120	0.95[EUR][1000 genomes]
rs2240121	0.89[EUR][1000 genomes]
rs2285860	0.85[EUR][1000 genomes]
rs2325783	0.95[EUR][1000 genomes]
rs3785737	0.83[EUR][1000 genomes]
rs4995899	0.93[EUR][1000 genomes]
rs55920502	0.93[EUR][1000 genomes]
rs55982711	0.85[EUR][1000 genomes]
rs58554000	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72823519	0.85[EUR][1000 genomes]
rs72823532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823533	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757353	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8066049	0.82[EUR][1000 genomes]
rs8071199	0.83[EUR][1000 genomes]
rs978263	0.86[EUR][1000 genomes]
rs9890691	0.83[EUR][1000 genomes]
rs9898218	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 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	chr17:46090200-46100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:46090200-46100400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:46090400-46100800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:46092600-46100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:46092600-46100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:46092600-46100800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:46092800-46100200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:46092800-46100400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:46092800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:46092800-46100600	Weak transcription	Fetal Brain Female	brain
11	chr17:46093800-46100600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:46094000-46100400	Weak transcription	HSMM	muscle
13	chr17:46094000-46101600	Weak transcription	K562	blood
14	chr17:46095800-46100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:46095800-46100200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:46095800-46100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:46095800-46100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:46095800-46100400	Weak transcription	A549	lung
19	chr17:46095800-46100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:46095800-46100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:46095800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:46096000-46100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:46096000-46100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:46098200-46100800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr17:46098600-46099000	Enhancers	HSMMtube	muscle
26	chr17:46098600-46100200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr17:46098800-46100000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr17:46098800-46100400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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