Variant report

Variant	rs2620687
Chromosome Location	chr12:75954175-75954176
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75953057..75955882-chr12:76429674..76432038,2	MCF-7	breast:
2	chr12:75953077..75955881-chr12:76035661..76037808,2	MCF-7	breast:
3	chr12:75954072..75954661-chr12:76430625..76431156,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10785197	0.94[ASN][1000 genomes]
rs11180559	0.90[ASN][1000 genomes]
rs11180576	0.99[ASN][1000 genomes]
rs11180577	0.97[ASN][1000 genomes]
rs11180591	0.94[ASN][1000 genomes]
rs1147994	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299578	0.99[ASN][1000 genomes]
rs1351328	0.96[ASN][1000 genomes]
rs1383098	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383101	0.88[ASN][1000 genomes]
rs1480001	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480002	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542570	0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1552040	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1611928	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1627431	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630753	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679380	0.95[ASN][1000 genomes]
rs1697753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795374	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1795380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795382	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652022	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847669	0.87[CEU][hapmap]
rs3912214	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882638	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs56904707	0.90[ASN][1000 genomes]
rs57091991	0.97[ASN][1000 genomes]
rs7297463	0.98[ASN][1000 genomes]
rs73185062	0.99[ASN][1000 genomes]
rs7960251	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr12:75946600-75957600	Weak transcription	Fetal Brain Male	brain
2	chr12:75948000-75958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:75948400-75954600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:75948800-75958200	Weak transcription	Osteobl	bone
5	chr12:75949800-75954800	Enhancers	HepG2	liver
6	chr12:75950800-75959600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:75952000-75954200	Enhancers	Fetal Heart	heart
8	chr12:75953000-75954400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:75953600-75954400	Enhancers	Fetal Lung	lung
10	chr12:75953800-75954400	Enhancers	Fetal Brain Female	brain
11	chr12:75953800-75954800	Enhancers	HMEC	breast
12	chr12:75953800-75959000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:75954000-75954200	Enhancers	Pancreas	Pancrea
14	chr12:75954000-75954400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:75954000-75954400	Enhancers	A549	lung
16	chr12:75954000-75954400	Enhancers	NHEK	skin
17	chr12:75954000-75954600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:75954000-75954800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:75954000-75955000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:75954000-75955000	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:75954000-75955200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:75954000-75955200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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