Variant report

Variant	rs58733148
Chromosome Location	chr12:120689471-120689472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120689037-120690628	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:120689033-120690709	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
2	chr12:120684888..120687057-chr12:120687063..120691406,4	MCF-7	breast:
3	chr12:120684404..120691478-chr12:120697984..120705218,14	MCF-7	breast:
4	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
5	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
6	chr12:120686832..120689716-chr12:120699360..120703521,4	K562	blood:
7	chr12:120637538..120640184-chr12:120688004..120689714,3	K562	blood:
8	chr12:120638630..120640184-chr12:120688004..120689714,2	K562	blood:
9	chr12:120687678..120692479-chr12:120701581..120703521,4	K562	blood:

No data

Variant related genes	Relation type
PXN	TF binding region
ENSG00000240925	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs25662	1.00[AMR][1000 genomes]
rs56792569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
3	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
5	chr12:120684000-120692000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120684600-120690600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120685000-120690600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:120685400-120689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:120685400-120690400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:120685400-120691200	Enhancers	Spleen	Spleen
11	chr12:120686000-120691000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:120686600-120690200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:120686600-120692800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:120686600-120693200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:120687400-120690400	Enhancers	Fetal Thymus	thymus
18	chr12:120687600-120690000	Genic enhancers	Fetal Muscle Leg	muscle
19	chr12:120687600-120693200	Genic enhancers	NHEK	skin
20	chr12:120687800-120689800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:120687800-120690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:120687800-120690200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:120688000-120690600	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:120688000-120692800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:120688000-120693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:120688000-120694000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:120688000-120694000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:120688000-120694200	Weak transcription	Brain Angular Gyrus	brain
29	chr12:120688000-120694200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:120688000-120695200	Weak transcription	Gastric	stomach
31	chr12:120688200-120689600	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr12:120688200-120692000	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:120688200-120694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:120688200-120695000	Weak transcription	Liver	Liver
35	chr12:120688400-120689600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:120688400-120689600	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr12:120688400-120689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:120688400-120689800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:120688400-120689800	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:120688400-120689800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:120688400-120690000	Weak transcription	Small Intestine	intestine
42	chr12:120688400-120690600	Enhancers	Right Atrium	heart
43	chr12:120688400-120691200	Enhancers	Adipose Nuclei	Adipose
44	chr12:120688400-120692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:120688400-120692200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:120688400-120692800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:120688400-120694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:120688400-120694200	Weak transcription	Pancreas	Pancrea
49	chr12:120688400-120694400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:120688400-120694800	Weak transcription	Esophagus	oesophagus

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