Variant report

Variant	rs12550770
Chromosome Location	chr8:87119875-87119876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87118812..87121413-chr8:87301706..87304462,2	MCF-7	breast:
2	chr8:87119574..87121153-chr8:87526480..87528203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10504820	0.87[JPT][hapmap]
rs10504821	0.87[JPT][hapmap]
rs10808539	0.88[JPT][hapmap]
rs10956194	0.88[JPT][hapmap]
rs12550469	0.81[JPT][hapmap]
rs12677686	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1483779	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs17605526	0.87[JPT][hapmap]
rs1872136	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2006725	0.82[ASN][1000 genomes]
rs2046370	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs2128930	0.87[JPT][hapmap]
rs2466326	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626321	0.85[ASN][1000 genomes]
rs2626322	0.85[ASN][1000 genomes]
rs2626324	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626326	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626327	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2626328	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626329	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2626330	0.85[ASN][1000 genomes]
rs2626331	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626332	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626334	0.82[ASN][1000 genomes]
rs2626339	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626340	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2626342	0.88[JPT][hapmap]
rs2626345	0.87[JPT][hapmap]
rs2721244	0.87[JPT][hapmap]
rs2721249	0.88[JPT][hapmap]
rs2721250	0.88[JPT][hapmap]
rs2721251	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721253	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721256	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721257	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721258	0.85[ASN][1000 genomes]
rs2721260	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721262	0.85[ASN][1000 genomes]
rs4584126	0.87[JPT][hapmap]
rs4960957	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961056	1.00[CHB][hapmap]
rs4961065	1.00[CHB][hapmap]
rs4961081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469458	0.82[CHB][hapmap]
rs6469859	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs6981984	0.81[JPT][hapmap]
rs6983781	0.87[JPT][hapmap]
rs6992915	0.87[JPT][hapmap]
rs6994457	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6999952	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7005074	0.81[JPT][hapmap]
rs7820770	0.87[JPT][hapmap]
rs7827741	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845147	0.81[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs900637	0.81[ASN][1000 genomes]
rs953147	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs953148	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs958099	1.00[CHB][hapmap]
rs975818	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs9785145	0.81[EUR][1000 genomes]
rs981711	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv611673	chr8:87106710-87136320	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2761443	chr8:87109368-87170814	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1020115	chr8:87111707-87167790	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026646	chr8:87111707-87177368	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87082400-87126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87111400-87120200	Weak transcription	Stomach Mucosa	stomach
3	chr8:87114600-87120000	Weak transcription	Hela-S3	cervix
4	chr8:87114600-87120000	Weak transcription	NHEK	skin
5	chr8:87115000-87120000	Weak transcription	HMEC	breast
6	chr8:87115000-87120000	Weak transcription	NH-A	brain
7	chr8:87115000-87120200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:87115200-87121000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:87115400-87120000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:87117600-87121600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:87119000-87120000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:87119000-87121000	Enhancers	HepG2	liver
13	chr8:87119200-87122800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:87119400-87120000	Weak transcription	A549	lung
15	chr8:87119600-87121400	Enhancers	Ovary	ovary
16	chr8:87119800-87120200	Enhancers	Adipose Nuclei	Adipose
17	chr8:87119800-87120600	Enhancers	HSMM	muscle

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