Variant report

Variant	rs12424285
Chromosome Location	chr12:51655770-51655771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51610351..51612451-chr12:51655429..51657960,2	K562	blood:
2	chr12:51653853..51656568-chr12:51660091..51661870,2	MCF-7	breast:
3	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
4	chr12:51651947..51654045-chr12:51655444..51659174,3	K562	blood:
5	chr12:51639097..51641707-chr12:51654193..51657011,2	K562	blood:
6	chr12:51655428..51658395-chr12:51663198..51666359,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4761804	0.84[EUR][1000 genomes]
rs7136290	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316433	0.84[EUR][1000 genomes]
rs7484634	0.82[EUR][1000 genomes]
rs7957667	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
2	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
4	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
5	chr12:51640000-51656400	Weak transcription	A549	lung
6	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
7	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
9	chr12:51640400-51659000	Weak transcription	HMEC	breast
10	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:51640600-51656600	Weak transcription	NHDF-Ad	bronchial
12	chr12:51640600-51661800	Weak transcription	NH-A	brain
13	chr12:51641000-51656600	Weak transcription	Osteobl	bone
14	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:51641800-51656400	Weak transcription	Stomach Mucosa	stomach
16	chr12:51641800-51656400	Weak transcription	HUVEC	blood vessel
17	chr12:51642000-51662800	Weak transcription	NHLF	lung
18	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon
19	chr12:51642200-51662800	Weak transcription	Gastric	stomach
20	chr12:51642200-51662800	Weak transcription	Right Ventricle	heart
21	chr12:51642200-51663000	Weak transcription	Lung	lung
22	chr12:51642400-51659400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:51642400-51662800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:51642600-51658000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51642600-51659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:51642600-51659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:51642600-51662600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:51642800-51658800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51643000-51662600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:51643200-51656600	Weak transcription	Spleen	Spleen
31	chr12:51643200-51662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:51644800-51659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:51645000-51656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:51645000-51656600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:51645000-51658800	Weak transcription	Dnd41	blood
36	chr12:51645200-51661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:51647600-51656600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:51647600-51657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:51647800-51659200	Weak transcription	Placenta	Placenta
40	chr12:51648000-51656600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:51648800-51662600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:51649000-51656200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:51649400-51661400	Weak transcription	Esophagus	oesophagus
44	chr12:51649400-51662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:51649600-51659400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:51651000-51662800	Weak transcription	Liver	Liver
47	chr12:51651200-51659200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:51651200-51660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:51651400-51656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:51651400-51662800	Weak transcription	Fetal Intestine Large	intestine

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