Variant report

Variant	rs553131417
Chromosome Location	chr12:118540553-118540554
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:
3	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
4	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
5	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
6	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
7	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-1	chr12:118539412-118540975	NONHSAT031022

No data

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	esv3357072	chr12:118540094-118543142	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:118501000-118540800	Weak transcription	NH-A	brain
4	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
6	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:118515800-118540800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:118515800-118540800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:118517600-118540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:118517600-118540800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:118518600-118540800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:118519000-118540800	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:118519400-118540600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:118520200-118540600	Weak transcription	Liver	Liver
16	chr12:118528800-118540800	Weak transcription	Lung	lung
17	chr12:118529000-118540600	Weak transcription	Spleen	Spleen
18	chr12:118529600-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:118532600-118540800	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:118536400-118540600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:118536600-118540800	Weak transcription	Right Atrium	heart
22	chr12:118537000-118541000	Weak transcription	Gastric	stomach
23	chr12:118537000-118541000	Weak transcription	Small Intestine	intestine
24	chr12:118537400-118540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:118539600-118540800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:118539600-118540800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:118539600-118540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:118539600-118540800	Enhancers	Placenta	Placenta
29	chr12:118539600-118541000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:118539800-118540600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:118539800-118540600	Enhancers	Stomach Mucosa	stomach
32	chr12:118539800-118540800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:118539800-118540800	Enhancers	Left Ventricle	heart
34	chr12:118539800-118540800	Enhancers	Right Ventricle	heart
35	chr12:118539800-118542200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:118540000-118540600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:118540000-118540600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:118540000-118540600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:118540000-118540600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:118540000-118540600	Enhancers	Fetal Intestine Large	intestine
41	chr12:118540000-118540600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:118540000-118540600	Flanking Active TSS	A549	lung
43	chr12:118540000-118540800	Enhancers	Osteobl	bone
44	chr12:118540000-118541000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:118540000-118541000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:118540000-118541000	Flanking Active TSS	Hela-S3	cervix
47	chr12:118540000-118541400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:118540200-118540600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:118540200-118540600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:118540200-118540600	Enhancers	HUVEC	blood vessel

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