Variant report

Variant	rs555284401
Chromosome Location	chr12:124390360-124390361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:124389719-124390578	A549	lung:	n/a	n/a
2	JUND	chr12:124389720-124390384	HCT-116	colon:	n/a	n/a
3	CTCF	chr12:124389824-124390402	HCT-116	colon:	n/a	n/a
4	RAD21	chr12:124389822-124390404	HCT-116	colon:	n/a	n/a
5	FOSL2	chr12:124389833-124390408	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr12:124389749-124390414	HCT-116	colon:	n/a	n/a
7	JUND	chr12:124389895-124390387	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr12:124389558-124390373	SK-N-SH	brain:	n/a	n/a
9	SMC3	chr12:124389674-124390415	SK-N-SH	brain:	n/a	n/a
10	ZNF384	chr12:124390005-124390364	GM12878	blood:	n/a	n/a
11	CTCF	chr12:124390320-124390470	GM12865	blood:	n/a	n/a
12	CTCF	chr12:124389670-124390487	SK-N-SH	brain:	n/a	n/a
13	FOSL1	chr12:124389736-124390478	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
2	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:
3	chr12:124295197..124298095-chr12:124388889..124391568,2	MCF-7	breast:
4	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:

No data

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000270095	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv560499	chr12:124389150-124396816	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124382000-124391400	Weak transcription	Fetal Lung	lung
2	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
3	chr12:124386000-124391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:124386200-124390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:124386200-124392000	Weak transcription	NH-A	brain
7	chr12:124386200-124392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:124386200-124394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:124386800-124391800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:124387200-124392000	Weak transcription	Fetal Thymus	thymus
11	chr12:124388400-124391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:124389600-124390400	Enhancers	Fetal Intestine Small	intestine
13	chr12:124389800-124390400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:124389800-124390400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:124389800-124390400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:124389800-124390400	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:124389800-124390400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:124389800-124390400	Enhancers	NHDF-Ad	bronchial
19	chr12:124390000-124390600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:124390000-124392200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:124390200-124390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:124390200-124391400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:124390200-124391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:124390200-124391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:124390200-124391800	Weak transcription	Fetal Kidney	kidney
26	chr12:124390200-124391800	Weak transcription	HMEC	breast
27	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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