Variant report

Variant	rs7387172
Chromosome Location	chr8:124779607-124779608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

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

No data

(count:11 , 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	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
6	chr8:124778654..124780611-chr8:124799801..124801881,2	MCF-7	breast:
7	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:
8	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
9	chr7:143208372..143211221-chr8:124779157..124780732,2	MCF-7	breast:
10	chr8:124705081..124707705-chr8:124777857..124780105,2	MCF-7	breast:
11	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10505440	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11991567	1.00[CHB][hapmap]
rs12545556	1.00[CHB][hapmap]
rs12550449	1.00[CHB][hapmap]
rs12680426	0.96[EUR][1000 genomes]
rs16898866	0.87[AFR][1000 genomes]
rs1978679	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1978680	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1978681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.94[EUR][1000 genomes]
rs6651229	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7825091	1.00[CHB][hapmap]
rs7825404	1.00[CHB][hapmap]
rs7836620	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792209	1.00[CHB][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
2	chr8:124776000-124779800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124776000-124779800	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:124776000-124780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124778000-124779800	Enhancers	Fetal Intestine Small	intestine
6	chr8:124778400-124780000	Weak transcription	Fetal Heart	heart
7	chr8:124778600-124779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:124778600-124779800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:124778600-124780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:124778800-124779800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:124778800-124779800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:124778800-124779800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:124778800-124779800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:124778800-124780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:124778800-124780000	Weak transcription	Psoas Muscle	Psoas
16	chr8:124778800-124780000	Flanking Active TSS	HepG2	liver
17	chr8:124779200-124779800	Weak transcription	Brain Anterior Caudate	brain
18	chr8:124779200-124779800	Active TSS	Stomach Smooth Muscle	stomach
19	chr8:124779200-124780000	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:124779200-124780000	Enhancers	Small Intestine	intestine
21	chr8:124779400-124779800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr8:124779400-124779800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:124779400-124779800	Bivalent Enhancer	Dnd41	blood
24	chr8:124779400-124779800	Enhancers	HMEC	breast
25	chr8:124779400-124779800	Enhancers	NHEK	skin
26	chr8:124779400-124780000	Enhancers	Liver	Liver
27	chr8:124779600-124779800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:124779600-124779800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr8:124779600-124779800	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr8:124779600-124779800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:124779600-124779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:124779600-124779800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:124779600-124779800	Enhancers	Adipose Nuclei	Adipose
34	chr8:124779600-124779800	Enhancers	Brain Substantia Nigra	brain
35	chr8:124779600-124779800	Enhancers	Colon Smooth Muscle	Colon
36	chr8:124779600-124779800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:124779600-124779800	Enhancers	Fetal Kidney	kidney
38	chr8:124779600-124779800	Enhancers	Fetal Stomach	stomach
39	chr8:124779600-124779800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:124779600-124779800	Enhancers	HUVEC	blood vessel
41	chr8:124779600-124780000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:124779600-124780000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:124779600-124780000	Enhancers	Fetal Intestine Large	intestine
44	chr8:124779600-124780000	Enhancers	K562	blood
45	chr8:124779600-124781400	Active TSS	Fetal Lung	lung

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