Variant report

Variant	rs11835282
Chromosome Location	chr12:48431525-48431526
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48426470..48428398-chr12:48428806..48432334,3	MCF-7	breast:
2	chr12:48377455..48379308-chr12:48429831..48432694,2	K562	blood:
3	chr12:48426621..48428717-chr12:48430919..48432434,2	K562	blood:
4	chr12:48422786..48426072-chr12:48430482..48433177,3	MCF-7	breast:
5	chr12:48428906..48431676-chr12:48435313..48438563,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835145	1.00[ASN][1000 genomes]
rs11835720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs58573495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:48427600-48435600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:48428600-48432200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48429000-48434200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:48429200-48433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:48429200-48437000	Weak transcription	GM12878-XiMat	blood
8	chr12:48429400-48433200	Weak transcription	Colonic Mucosa	Colon
9	chr12:48429400-48435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:48429600-48436400	Weak transcription	HMEC	breast
11	chr12:48429800-48434200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:48430200-48432000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48430200-48433200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:48430400-48431600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr12:48430400-48432200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:48430600-48431800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:48430600-48431800	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:48430600-48431800	Enhancers	Placenta	Placenta
19	chr12:48430600-48431800	Enhancers	Lung	lung
20	chr12:48430600-48431800	Enhancers	Right Atrium	heart
21	chr12:48430600-48431800	Enhancers	K562	blood
22	chr12:48430600-48432000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:48430600-48432000	Enhancers	Fetal Intestine Small	intestine
24	chr12:48430600-48432000	Enhancers	Fetal Kidney	kidney
25	chr12:48430600-48432000	Enhancers	Fetal Lung	lung
26	chr12:48430600-48432000	Enhancers	Ovary	ovary
27	chr12:48430600-48432000	Enhancers	Right Ventricle	heart
28	chr12:48430600-48432200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:48430600-48432200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:48430600-48432200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:48430600-48432200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:48430600-48432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:48430800-48431600	Weak transcription	Pancreas	Pancrea
34	chr12:48430800-48431800	Enhancers	Fetal Muscle Leg	muscle
35	chr12:48430800-48431800	Enhancers	Fetal Stomach	stomach
36	chr12:48430800-48432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:48430800-48432000	Enhancers	Fetal Thymus	thymus
38	chr12:48430800-48432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:48431000-48431600	Enhancers	Brain Germinal Matrix	brain
40	chr12:48431000-48431800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:48431000-48431800	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:48431000-48431800	Enhancers	Adipose Nuclei	Adipose
43	chr12:48431000-48431800	Enhancers	Liver	Liver
44	chr12:48431000-48431800	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr12:48431000-48431800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:48431000-48432000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr12:48431000-48432000	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:48431000-48432000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:48431000-48432000	Enhancers	Fetal Heart	heart
50	chr12:48431000-48432000	Enhancers	Spleen	Spleen

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