Variant report

Variant	rs548282864
Chromosome Location	chr12:120553338-120553339
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120552974..120555854-chr12:120934971..120936620,2	K562	blood:
2	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
3	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
4	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
5	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
6	chr12:120516359..120519600-chr12:120552938..120556302,7	MCF-7	breast:
7	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
8	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
9	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
10	chr12:120553041..120557313-chr12:120636619..120640383,10	K562	blood:
11	chr12:120528996..120531217-chr12:120552975..120554934,2	MCF-7	breast:
12	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
13	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
14	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
15	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
16	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
17	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
18	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000202538	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
3	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
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv3408817	chr12:120553094-120555942	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:120549800-120553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:120551200-120553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:120551600-120553400	Genic enhancers	Fetal Thymus	thymus
8	chr12:120551600-120553600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:120552200-120553400	Genic enhancers	Fetal Stomach	stomach
10	chr12:120552200-120553400	Enhancers	Pancreas	Pancrea
11	chr12:120552200-120553600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:120552200-120553600	Enhancers	Small Intestine	intestine
13	chr12:120552200-120553600	Transcr. at gene 5' and 3'	Hela-S3	cervix
14	chr12:120552200-120554200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr12:120552400-120553400	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:120552400-120553400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:120552400-120553600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
18	chr12:120552400-120553800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:120552400-120553800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:120552600-120553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:120552600-120553400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
22	chr12:120552600-120553400	Enhancers	Stomach Mucosa	stomach
23	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
24	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr12:120552600-120553600	Enhancers	Ovary	ovary
26	chr12:120552600-120553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:120552600-120553800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:120552600-120553800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:120552600-120553800	Enhancers	Spleen	Spleen
30	chr12:120552600-120554200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:120552600-120554200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:120552600-120554200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr12:120552800-120553400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:120552800-120553400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:120552800-120553400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:120552800-120553400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:120552800-120553400	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr12:120552800-120553600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:120552800-120553800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:120552800-120553800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:120552800-120554000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:120552800-120554000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:120552800-120554000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:120552800-120554000	Transcr. at gene 5' and 3'	HSMM	muscle
47	chr12:120552800-120554000	Flanking Active TSS	HUVEC	blood vessel
48	chr12:120552800-120554200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:120552800-120554200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:120552800-120554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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