Variant report

Variant	rs10492053
Chromosome Location	chr12:4644782-4644783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4637116..4639367-chr12:4642465..4645295,2	MCF-7	breast:
2	chr12:4642107..4644935-chr12:4645402..4647439,3	K562	blood:
3	chr12:4637755..4640527-chr12:4643225..4645157,3	K562	blood:

Variant related genes	Relation type
ENSG00000047621	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs35467270	0.92[AFR][1000 genomes]
rs56857065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57308816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71459907	0.88[AFR][1000 genomes]
rs7296957	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs7302664	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs74061919	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74061923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061924	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7955370	0.92[AFR][1000 genomes]
rs7962626	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer 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 target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
2	chr12:4594400-4646400	Weak transcription	NHLF	lung
3	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
5	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
7	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:4615000-4646400	Weak transcription	Fetal Heart	heart
13	chr12:4616400-4646000	Weak transcription	HepG2	liver
14	chr12:4617000-4646600	Weak transcription	NHEK	skin
15	chr12:4624400-4645400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:4624400-4646400	Weak transcription	K562	blood
17	chr12:4627600-4645600	Weak transcription	HMEC	breast
18	chr12:4627600-4646600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:4629200-4647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:4629600-4647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:4629600-4647200	Weak transcription	Gastric	stomach
22	chr12:4629800-4646600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:4629800-4647000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:4630000-4645400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:4630000-4646400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:4634400-4646200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:4636200-4645400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:4636600-4645400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:4636800-4645200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:4637000-4644800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:4637400-4644800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:4638400-4644800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:4638400-4645200	Strong transcription	Primary B cells from cord blood	blood
34	chr12:4638400-4645200	Strong transcription	Liver	Liver
35	chr12:4638800-4647000	Weak transcription	Colonic Mucosa	Colon
36	chr12:4639400-4646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:4640400-4644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:4640400-4645200	Strong transcription	HSMM	muscle
39	chr12:4640600-4644800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:4641000-4645000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:4641000-4645200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:4641200-4644800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:4641200-4645200	Strong transcription	Fetal Thymus	thymus
44	chr12:4641200-4646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:4641200-4646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:4641200-4646400	Weak transcription	Fetal Lung	lung
47	chr12:4641400-4644800	Strong transcription	NH-A	brain
48	chr12:4641400-4645400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:4641400-4646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:4641600-4645200	Strong transcription	Osteobl	bone

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