Variant report

Variant	rs10785559
Chromosome Location	chr12:45655246-45655247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45649985..45652143-chr12:45652461..45655864,3	MCF-7	breast:
2	chr12:45654235..45656718-chr12:45666957..45669692,2	MCF-7	breast:
3	chr12:45654342..45656870-chr12:45658694..45660838,2	MCF-7	breast:
4	chr12:45608273..45611402-chr12:45650771..45657484,8	MCF-7	breast:
5	chr12:45655142..45658052-chr12:45658399..45661222,2	MCF-7	breast:
6	chr12:45653667..45656003-chr12:46121465..46123102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1019584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748414	0.80[AFR][1000 genomes]
rs10748417	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748418	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10748420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785565	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10785568	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10880767	0.90[AMR][1000 genomes]
rs10880773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182971	0.90[AMR][1000 genomes]
rs1238407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1862907	0.90[AMR][1000 genomes]
rs1877972	0.90[AMR][1000 genomes]
rs1896027	0.83[AFR][1000 genomes]
rs1913691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4140756	1.00[AMR][1000 genomes]
rs4768087	0.83[AFR][1000 genomes]
rs4768604	0.90[AMR][1000 genomes]
rs6582542	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6582543	0.90[AMR][1000 genomes]
rs7135029	0.83[AFR][1000 genomes]
rs7953360	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7960422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970250	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970619	0.90[AMR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:45651200-45662000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:45651400-45662000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45651400-45662400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:45651600-45656600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:45651600-45656600	Weak transcription	GM12878-XiMat	blood
9	chr12:45651600-45657200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:45651600-45662000	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:45651600-45662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:45651600-45667000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45651600-45667400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:45652000-45655400	Enhancers	Fetal Intestine Large	intestine
16	chr12:45652200-45655600	Enhancers	Psoas Muscle	Psoas
17	chr12:45653200-45655600	Enhancers	Fetal Lung	lung
18	chr12:45653200-45655600	Enhancers	Left Ventricle	heart
19	chr12:45653400-45655400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:45653800-45655400	Enhancers	Ovary	ovary
21	chr12:45653800-45657400	Weak transcription	Small Intestine	intestine
22	chr12:45653800-45662000	Weak transcription	Esophagus	oesophagus
23	chr12:45654200-45655800	Enhancers	Adipose Nuclei	Adipose
24	chr12:45654200-45656600	Weak transcription	Fetal Heart	heart
25	chr12:45654200-45657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:45654200-45662000	Weak transcription	Right Ventricle	heart
27	chr12:45654200-45662000	Weak transcription	Spleen	Spleen
28	chr12:45654200-45662400	Weak transcription	Gastric	stomach
29	chr12:45654200-45666800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:45654400-45655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:45654400-45655600	Enhancers	Hela-S3	cervix
32	chr12:45654400-45655800	Enhancers	Liver	Liver
33	chr12:45654400-45655800	Enhancers	HepG2	liver
34	chr12:45654400-45656000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:45654400-45656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:45654400-45656600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:45654400-45656600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:45654400-45657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:45654400-45657200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:45654400-45657200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:45654400-45657200	Weak transcription	Right Atrium	heart
42	chr12:45654400-45657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:45654400-45657200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:45654400-45657200	Weak transcription	K562	blood
45	chr12:45654400-45657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:45654400-45657400	Weak transcription	Fetal Kidney	kidney
47	chr12:45654400-45661800	Weak transcription	A549	lung
48	chr12:45654400-45662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:45654400-45662000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:45654400-45662000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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