Variant report

Variant	rs6580808
Chromosome Location	chr12:51602852-51602853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:51602618-51602878	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51596681..51599666-chr12:51600800..51605686,4	MCF-7	breast:
2	chr12:51601722..51604609-chr12:51638595..51640139,2	K562	blood:
3	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
4	chr12:51601579..51604485-chr12:51610338..51611938,2	MCF-7	breast:
5	chr12:51601544..51604306-chr12:51636375..51638373,2	K562	blood:
6	chr12:51595822..51599555-chr12:51601629..51604799,3	K562	blood:

No data

Variant related genes	Relation type
POU6F1	TF binding region
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10431487	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10735832	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169761	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2067902	0.90[EUR][1000 genomes]
rs7975737	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7976292	0.85[AMR][1000 genomes];0.91[EUR][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	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
4	chr12:51582200-51608000	Weak transcription	NHLF	lung
5	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
13	chr12:51592400-51610200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:51592400-51610600	Weak transcription	Pancreas	Pancrea
15	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
16	chr12:51592800-51610200	Weak transcription	Right Ventricle	heart
17	chr12:51592800-51610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:51593200-51610200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:51594400-51610400	Weak transcription	Liver	Liver
20	chr12:51595200-51610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:51595600-51610400	Weak transcription	NH-A	brain
22	chr12:51596000-51610200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:51596600-51604200	Weak transcription	Small Intestine	intestine
24	chr12:51596800-51605600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:51597400-51610200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:51597400-51610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:51597400-51611000	Weak transcription	Primary T cells from cord blood	blood
28	chr12:51597600-51610400	Weak transcription	Fetal Lung	lung
29	chr12:51597800-51610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51597800-51610000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:51597800-51610400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:51598000-51604400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:51598000-51610200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:51598000-51610200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:51598000-51610200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:51598000-51610400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:51598000-51610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:51598200-51604400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:51598200-51604800	Weak transcription	Spleen	Spleen
40	chr12:51598200-51610400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:51598200-51610600	Weak transcription	Fetal Intestine Small	intestine
42	chr12:51598200-51610600	Weak transcription	Gastric	stomach
43	chr12:51598400-51604000	Weak transcription	Lung	lung
44	chr12:51598400-51610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:51598400-51610400	Weak transcription	Ovary	ovary
46	chr12:51598800-51604000	Weak transcription	Brain Anterior Caudate	brain
47	chr12:51598800-51605200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:51598800-51610000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:51598800-51610200	Weak transcription	Adipose Nuclei	Adipose
50	chr12:51599400-51604000	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links