Variant report

Variant	rs833482
Chromosome Location	chr12:49277392-49277393
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49246388..49252218-chr12:49276087..49280065,7	MCF-7	breast:
2	chr12:49275956..49279461-chr12:49283300..49286531,4	MCF-7	breast:
3	chr12:49253798..49263932-chr12:49272568..49285670,39	MCF-7	breast:
4	chr12:49253541..49263542-chr12:49271204..49284916,35	MCF-7	breast:
5	chr12:49275330..49277454-chr12:49281174..49283027,2	MCF-7	breast:
6	chr12:49275988..49277601-chr12:49279454..49281035,2	MCF-7	breast:
7	chr12:49244448..49248825-chr12:49273797..49278851,6	MCF-7	breast:
8	chr12:49276917..49280280-chr12:49283219..49286162,3	K562	blood:
9	chr12:49265197..49267414-chr12:49276769..49280973,3	MCF-7	breast:
10	chr12:49275988..49277581-chr12:49412229..49413782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199394	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000172602	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10783288	1.00[JPT][hapmap]
rs10875884	1.00[JPT][hapmap]
rs17175174	1.00[JPT][hapmap]
rs2228417	1.00[JPT][hapmap]
rs2453477	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57040947	1.00[ASN][1000 genomes]
rs833477	1.00[JPT][hapmap]
rs833480	1.00[JPT][hapmap]
rs903570	0.91[CEU][hapmap]

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	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49278200	Enhancers	Liver	Liver
2	chr12:49274000-49278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49275000-49278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:49275200-49278200	Enhancers	Fetal Intestine Large	intestine
5	chr12:49275200-49278200	Enhancers	Fetal Intestine Small	intestine
6	chr12:49275400-49277800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:49275400-49278200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:49275600-49277400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:49275600-49277600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr12:49275600-49277800	Enhancers	Placenta	Placenta
11	chr12:49275600-49278000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:49275600-49278000	Enhancers	Fetal Lung	lung
13	chr12:49275600-49278000	Enhancers	Lung	lung
14	chr12:49275600-49278000	Enhancers	Pancreas	Pancrea
15	chr12:49275600-49278200	Flanking Active TSS	A549	lung
16	chr12:49275800-49278000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:49275800-49278000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:49275800-49278000	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:49275800-49278200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:49275800-49278200	Enhancers	Brain Angular Gyrus	brain
21	chr12:49275800-49278200	Enhancers	Fetal Brain Male	brain
22	chr12:49275800-49278200	Enhancers	K562	blood
23	chr12:49276000-49277400	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:49276000-49277400	Enhancers	Brain Germinal Matrix	brain
25	chr12:49276000-49277600	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:49276000-49277800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:49276000-49277800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:49276000-49278000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:49276000-49278000	Enhancers	Fetal Brain Female	brain
30	chr12:49276000-49278200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr12:49276200-49277400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49276200-49278000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:49276200-49278400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:49276400-49277400	Bivalent Enhancer	NHLF	lung
35	chr12:49276400-49277800	Enhancers	Right Atrium	heart
36	chr12:49276400-49278000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:49276400-49278200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:49276400-49278200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:49276400-49278400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:49276600-49277400	Weak transcription	Left Ventricle	heart
41	chr12:49276600-49277800	Enhancers	Adipose Nuclei	Adipose
42	chr12:49276600-49278000	Enhancers	Fetal Kidney	kidney
43	chr12:49276600-49278200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:49276600-49278400	Enhancers	Stomach Mucosa	stomach
45	chr12:49276800-49277400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:49276800-49277600	Enhancers	Brain Hippocampus Middle	brain
47	chr12:49276800-49277800	Enhancers	Brain Anterior Caudate	brain
48	chr12:49277000-49277800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr12:49277000-49277800	Weak transcription	Gastric	stomach
50	chr12:49277000-49278000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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