Variant report

Variant	rs12721414
Chromosome Location	chr12:48340009-48340010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48339969..48342316-chr12:48356625..48358827,2	MCF-7	breast:
2	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
3	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
4	chr12:48265158..48267114-chr12:48338782..48341101,2	MCF-7	breast:
5	chr12:48339085..48340667-chr12:48391906..48394233,2	MCF-7	breast:
6	chr12:48335438..48337968-chr12:48338548..48340997,2	MCF-7	breast:
7	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
8	chr12:48098681..48100695-chr12:48339723..48341615,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134291	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12721417	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12721423	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12721428	1.00[AFR][1000 genomes]
rs12814542	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12821733	0.86[AMR][1000 genomes]
rs12822608	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1859448	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2070739	1.00[AFR][1000 genomes]
rs2158514	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2286023	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2286025	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28594309	0.87[AMR][1000 genomes]
rs34433333	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34829929	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36029544	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923693	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288816	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
2	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:48336200-48340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:48336200-48340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48336600-48340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:48336600-48341200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
8	chr12:48337200-48340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:48337800-48340200	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
11	chr12:48338200-48340600	Weak transcription	Fetal Intestine Large	intestine
12	chr12:48338400-48340600	Enhancers	NHEK	skin
13	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:48338400-48348800	Enhancers	HMEC	breast
15	chr12:48338800-48340200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48338800-48340200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:48338800-48340400	Weak transcription	Spleen	Spleen
18	chr12:48338800-48340600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:48338800-48341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:48338800-48341600	Enhancers	Fetal Kidney	kidney
21	chr12:48338800-48341600	Enhancers	Placenta	Placenta
22	chr12:48338800-48343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:48339000-48340400	Weak transcription	Esophagus	oesophagus
24	chr12:48339000-48341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:48339200-48340200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:48339200-48340400	Enhancers	HSMM	muscle
27	chr12:48339200-48342400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:48339400-48341400	Enhancers	Colonic Mucosa	Colon
29	chr12:48339600-48340400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:48339600-48340400	Enhancers	HSMMtube	muscle
31	chr12:48339600-48340600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:48339600-48340800	Enhancers	Fetal Heart	heart
33	chr12:48339600-48340800	Enhancers	NHDF-Ad	bronchial
34	chr12:48339800-48340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:48339800-48340200	Enhancers	Hela-S3	cervix
36	chr12:48339800-48340800	Enhancers	Fetal Intestine Small	intestine
37	chr12:48339800-48340800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr12:48339800-48341000	Enhancers	A549	lung
39	chr12:48339800-48341600	Enhancers	Ovary	ovary
40	chr12:48339800-48341800	Enhancers	Fetal Lung	lung
41	chr12:48340000-48341600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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