Variant report

Variant	rs10785649
Chromosome Location	chr12:47429199-47429200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47427484..47430448-chr12:47461043..47464291,4	MCF-7	breast:
2	chr12:47424715..47431022-chr12:47469878..47476557,9	MCF-7	breast:
3	chr12:47423549..47426668-chr12:47427215..47430937,3	K562	blood:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction
ENSG00000139211	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10881023	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881025	0.96[EUR][1000 genomes]
rs10881027	0.91[ASN][1000 genomes]
rs10881029	0.91[ASN][1000 genomes]
rs10881033	0.91[ASN][1000 genomes]
rs11183695	0.97[EUR][1000 genomes]
rs1557781	0.90[ASN][1000 genomes]
rs1859112	0.91[ASN][1000 genomes]
rs2263492	0.87[EUR][1000 genomes]
rs2408647	0.87[EUR][1000 genomes]
rs2522258	0.87[EUR][1000 genomes]
rs2522263	0.84[EUR][1000 genomes]
rs2522269	0.87[EUR][1000 genomes]
rs2522275	0.96[EUR][1000 genomes]
rs2711695	0.93[EUR][1000 genomes]
rs2711699	0.94[EUR][1000 genomes]
rs2711702	0.96[EUR][1000 genomes]
rs4768769	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7133990	0.91[ASN][1000 genomes]
rs7139072	0.96[EUR][1000 genomes]
rs7305283	0.96[EUR][1000 genomes]
rs7956056	0.99[ASN][1000 genomes]
rs7956758	0.99[ASN][1000 genomes]
rs7958568	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7978006	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47426600-47429200	Enhancers	Colon Smooth Muscle	Colon
2	chr12:47426600-47429200	Flanking Active TSS	A549	lung
3	chr12:47426600-47429600	Enhancers	Hela-S3	cervix
4	chr12:47426600-47429800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:47426800-47429400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:47426800-47429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:47426800-47429400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:47426800-47429800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:47427000-47429400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:47427000-47429600	Enhancers	Fetal Intestine Large	intestine
11	chr12:47427200-47429400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:47427400-47429200	Enhancers	Fetal Intestine Small	intestine
13	chr12:47427800-47429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:47427800-47431800	Weak transcription	Liver	Liver
15	chr12:47428400-47431400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:47428600-47429400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:47428600-47431800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:47428800-47429200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:47428800-47433000	Weak transcription	Osteobl	bone
20	chr12:47429000-47429200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:47429000-47429200	Enhancers	Primary T cells from cord blood	blood
22	chr12:47429000-47429600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:47429000-47429600	Enhancers	Fetal Kidney	kidney
24	chr12:47429000-47430200	Weak transcription	Pancreas	Pancrea

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