Variant report

Variant	rs10748412
Chromosome Location	chr12:45651957-45651958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45646019..45648882-chr12:45651265..45654119,3	K562	blood:
2	chr12:45608273..45611402-chr12:45650771..45657484,8	MCF-7	breast:
3	chr12:45651078..45653122-chr12:45664303..45667103,2	MCF-7	breast:
4	chr12:45649985..45652143-chr12:45652461..45655864,3	MCF-7	breast:
5	chr12:45608250..45611735-chr12:45651406..45654957,3	K562	blood:
6	chr12:45647992..45649821-chr12:45651652..45653582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1015626	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10437984	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10785557	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10785561	0.98[AFR][1000 genomes]
rs10785566	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs10880760	0.83[ASN][1000 genomes]
rs10880761	0.91[ASN][1000 genomes]
rs10880762	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10880763	0.93[ASN][1000 genomes]
rs10880764	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10880771	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs11182905	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11182908	0.81[AMR][1000 genomes]
rs11182913	0.81[ASN][1000 genomes]
rs11182918	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182936	0.93[ASN][1000 genomes]
rs11182938	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182939	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182944	0.92[ASN][1000 genomes]
rs11182946	0.92[ASN][1000 genomes]
rs11182949	0.94[ASN][1000 genomes]
rs11182953	0.89[EUR][1000 genomes]
rs11182954	0.89[EUR][1000 genomes]
rs11182955	0.89[EUR][1000 genomes]
rs12230322	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12231753	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12320168	0.92[ASN][1000 genomes]
rs12815334	0.89[EUR][1000 genomes]
rs12815577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815723	0.89[EUR][1000 genomes]
rs12818421	0.87[EUR][1000 genomes]
rs1399721	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2012937	0.83[ASN][1000 genomes]
rs2052602	0.92[ASN][1000 genomes]
rs2052603	0.92[ASN][1000 genomes]
rs2408184	0.91[ASN][1000 genomes]
rs35660715	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3759080	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4326862	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4768085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768598	0.83[ASN][1000 genomes]
rs57560057	0.89[EUR][1000 genomes]
rs58444879	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7136368	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7138247	0.84[ASN][1000 genomes]
rs7138983	0.93[ASN][1000 genomes]
rs728590	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7304481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307262	0.83[ASN][1000 genomes]
rs7309615	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7310046	0.83[ASN][1000 genomes]
rs7963038	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7963057	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9739519	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
5	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
11	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:45641600-45652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:45643000-45652400	Weak transcription	HUVEC	blood vessel
14	chr12:45644000-45653200	Weak transcription	Fetal Kidney	kidney
15	chr12:45646600-45653800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45647400-45652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:45648200-45653000	Weak transcription	NHLF	lung
19	chr12:45648400-45652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:45648400-45653200	Weak transcription	Small Intestine	intestine
21	chr12:45649000-45652400	Weak transcription	NHEK	skin
22	chr12:45649600-45653200	Weak transcription	Fetal Brain Female	brain
23	chr12:45649800-45653600	Enhancers	Liver	Liver
24	chr12:45650600-45654600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:45650800-45652600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:45650800-45653600	Enhancers	Adipose Nuclei	Adipose
27	chr12:45650800-45654200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:45650800-45654400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:45650800-45655000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:45651000-45653800	Enhancers	Fetal Brain Male	brain
31	chr12:45651000-45654400	Enhancers	Right Atrium	heart
32	chr12:45651000-45654400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:45651000-45655000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:45651000-45655000	Enhancers	Pancreas	Pancrea
35	chr12:45651200-45652400	Weak transcription	Dnd41	blood
36	chr12:45651200-45653200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:45651200-45653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:45651200-45653400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:45651200-45653800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:45651200-45662000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:45651400-45652400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:45651400-45652400	Weak transcription	A549	lung
43	chr12:45651400-45652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:45651400-45652600	Weak transcription	HMEC	breast
45	chr12:45651400-45652600	Weak transcription	NHDF-Ad	bronchial
46	chr12:45651400-45652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:45651400-45652800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:45651400-45653000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:45651400-45653200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:45651400-45653200	Weak transcription	NH-A	brain

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