Variant report

Variant	rs71516718
Chromosome Location	chr8:124779434-124779435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr8:124778010-124779485	SK-N-SH	brain:	n/a	n/a
2	FOXA2	chr8:124779417-124779749	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:124779422-124779617	HepG2	liver:	n/a	n/a
4	FOXA1	chr8:124779387-124779791	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124779079..124779807-chr8:125452576..125453383,2	MCF-7	breast:
2	chr8:124740454..124743315-chr8:124777092..124780080,2	MCF-7	breast:
3	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
4	chr8:124778149..124780691-chr9:110801897..110804862,2	MCF-7	breast:
5	chr8:124498554..124499181-chr8:124778598..124779547,2	MCF-7	breast:
6	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
7	chr8:124778654..124780611-chr8:124799801..124801881,2	MCF-7	breast:
8	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:
9	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
10	chr7:143208372..143211221-chr8:124779157..124780732,2	MCF-7	breast:
11	chr8:124705081..124707705-chr8:124777857..124780105,2	MCF-7	breast:
12	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:

No data

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000176510	Chromatin interaction
ENSG00000213557	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000104537	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
3	esv3411799	chr8:124779296-124782144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
2	chr8:124775800-124779600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:124776000-124779800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124776000-124779800	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:124776000-124780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124776200-124779600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:124778000-124779800	Enhancers	Fetal Intestine Small	intestine
8	chr8:124778400-124780000	Weak transcription	Fetal Heart	heart
9	chr8:124778600-124779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:124778600-124779600	Weak transcription	K562	blood
11	chr8:124778600-124779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:124778600-124779800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:124778600-124780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:124778800-124779800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:124778800-124779800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:124778800-124779800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:124778800-124779800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:124778800-124780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:124778800-124780000	Weak transcription	Psoas Muscle	Psoas
20	chr8:124778800-124780000	Flanking Active TSS	HepG2	liver
21	chr8:124779200-124779600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:124779200-124779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:124779200-124779600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:124779200-124779600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:124779200-124779800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:124779200-124779800	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:124779200-124780000	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:124779200-124780000	Enhancers	Small Intestine	intestine
29	chr8:124779400-124779800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr8:124779400-124779800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:124779400-124779800	Bivalent Enhancer	Dnd41	blood
32	chr8:124779400-124779800	Enhancers	HMEC	breast
33	chr8:124779400-124779800	Enhancers	NHEK	skin
34	chr8:124779400-124780000	Enhancers	Liver	Liver

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