Variant report

Variant	rs927648
Chromosome Location	chr20:52769592-52769593
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56707032..56710436-chr20:52766357..52772037,9	MCF-7	breast:
2	chr17:56706368..56709577-chr20:52768047..52771187,3	MCF-7	breast:
3	chr17:56735424..56738028-chr20:52767765..52769885,2	MCF-7	breast:
4	chr17:59484574..59486757-chr20:52768086..52769759,2	MCF-7	breast:
5	chr17:59489837..59492539-chr20:52768488..52770171,2	MCF-7	breast:
6	chr20:45984855..45987152-chr20:52768501..52771128,2	MCF-7	breast:
7	chr20:52211908..52215151-chr20:52766884..52771883,4	MCF-7	breast:
8	chr20:52768988..52769787-chr20:52779061..52780220,3	MCF-7	breast:
9	chr20:52768317..52770399-chr20:52774857..52777374,2	K562	blood:
10	chr20:52769068..52771825-chr20:54966838..54969241,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction
ENSG00000087586	Chromatin interaction
ENSG00000101138	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1570669	0.92[ASN][1000 genomes]
rs1570670	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985565	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274130	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274132	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296237	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296238	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296239	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296240	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3787553	0.90[ASN][1000 genomes]
rs4809956	0.96[ASN][1000 genomes]
rs4809957	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4811494	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56808842	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59895069	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6022985	0.84[AMR][1000 genomes]
rs6091824	0.90[ASN][1000 genomes]
rs6091825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6091826	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6097805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6097806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6097807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6097810	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs751087	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs751089	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs912505	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs927651	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs927652	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv912945	chr20:52746724-52772741	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv912946	chr20:52758416-52772741	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv1063981	chr20:52765317-52776613	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2762085	chr20:52765329-52776625	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv586281	chr20:52765349-52771171	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1058882	chr20:52765979-52794372	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52768400-52769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:52768600-52769800	Enhancers	HMEC	breast
3	chr20:52768800-52769600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:52768800-52769800	Enhancers	HepG2	liver
5	chr20:52768800-52790200	Transcr. at gene 5' and 3'	A549	lung
6	chr20:52769000-52769600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:52769000-52769800	Enhancers	Placenta	Placenta
8	chr20:52769200-52769600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr20:52769200-52789400	Weak transcription	Esophagus	oesophagus
10	chr20:52769400-52769600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr20:52769400-52769600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:52769400-52769800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:52769400-52769800	Enhancers	NHEK	skin

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