Variant report

Variant	rs813516
Chromosome Location	chr12:58020825-58020826
allele	C/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	chr12:57984885..57986845-chr12:58019565..58021486,2	MCF-7	breast:
2	chr12:57856136..57857070-chr12:58020257..58020872,2	K562	blood:
3	chr12:58018186..58020875-chr12:58113859..58115520,2	K562	blood:
4	chr12:57978631..57980822-chr12:58019393..58022185,2	MCF-7	breast:
5	chr12:58015842..58017854-chr12:58020361..58022669,3	MCF-7	breast:
6	chr12:58013181..58015387-chr12:58019093..58021803,2	MCF-7	breast:
7	chr12:57912625..57915071-chr12:58019101..58021817,3	K562	blood:
8	chr12:57912625..57916215-chr12:58016074..58021603,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135506	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1284185	1.00[CEU][hapmap]
rs1678517	0.88[EUR][1000 genomes]
rs1678521	0.88[EUR][1000 genomes]
rs1689599	0.88[EUR][1000 genomes]
rs1689602	0.88[EUR][1000 genomes]
rs2599999	1.00[CEU][hapmap]
rs2640606	0.88[EUR][1000 genomes]
rs774894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs775242	1.00[CEU][hapmap]
rs810205	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58015600-58021400	Weak transcription	Gastric	stomach
2	chr12:58016000-58021200	Weak transcription	Pancreas	Pancrea
3	chr12:58016200-58021400	Weak transcription	Right Ventricle	heart
4	chr12:58017000-58025000	Weak transcription	K562	blood
5	chr12:58018000-58024600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:58018600-58023000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:58018800-58021600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:58018800-58024000	Strong transcription	Brain Germinal Matrix	brain
9	chr12:58018800-58024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:58019000-58023400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:58019000-58023400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:58019200-58021600	Strong transcription	Fetal Brain Female	brain
13	chr12:58019200-58022000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix
15	chr12:58019600-58022200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr12:58020000-58021800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:58020000-58022600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:58020200-58021400	Weak transcription	Spleen	Spleen
19	chr12:58020200-58021800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr12:58020400-58021200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:58020400-58021600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:58020400-58024800	Weak transcription	HepG2	liver
23	chr12:58020600-58021400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr12:58020600-58021400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr12:58020600-58021400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:58020600-58022200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr12:58020600-58022200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:58020600-58022600	Bivalent Enhancer	Placenta	Placenta
29	chr12:58020600-58024800	Strong transcription	A549	lung
30	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
31	chr12:58020800-58021200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr12:58020800-58021200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr12:58020800-58021200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr12:58020800-58022000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr12:58020800-58022000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:58020800-58025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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