Variant report

Variant	rs575908628
Chromosome Location	chr8:124779986-124779987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:124779752-124781938	IMR90	lung:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
2	MAX	chr8:124779871-124781007	A549	lung:	n/a	n/a
3	MAX	chr8:124779918-124781751	MCF-7	breast:	n/a	n/a
4	ELF1	chr8:124779969-124780900	K562	blood:	n/a	n/a
5	ELF1	chr8:124779969-124781329	GM12878	blood:	n/a	n/a
6	MAX	chr8:124779917-124780299	A549	lung:	n/a	n/a
7	POLR2A	chr8:124779955-124781057	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr8:124779741-124781597	SK-N-MC	brain:	n/a	n/a
9	CTCF	chr8:124779900-124780050	GM12873	blood:	n/a	n/a
10	SIN3AK20	chr8:124779852-124781647	MCF-7	breast:	n/a	n/a
11	HCFC1	chr8:124779788-124781757	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:124779809-124782026	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr8:124779748-124781592	IMR90	lung:	n/a	n/a
14	GABPA	chr8:124779762-124781610	MCF-7	breast:	n/a	chr8:124780539-124780548
15	GATA3	chr8:124779833-124780097	SH-SY5Y	brain:	n/a	n/a
16	CREB1	chr8:124779961-124780954	HepG2	liver:	n/a	n/a
17	MXI1	chr8:124779917-124781406	IMR90	lung:	n/a	n/a
18	MAX	chr8:124779970-124781330	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:124779982-124781053	HepG2	liver:	n/a	n/a
20	TAF1	chr8:124779830-124781212	MCF-7	breast:	n/a	n/a
21	ELF1	chr8:124779846-124781124	MCF-7	breast:	n/a	n/a
22	ELF1	chr8:124779907-124781606	MCF-7	breast:	n/a	n/a
23	HDAC2	chr8:124779764-124781436	MCF-7	breast:	n/a	chr8:124780536-124780545
24	SIN3A	chr8:124779907-124781466	H1-hESC	embryonic stem cell:	n/a	chr8:124780588-124780599
25	GABPA	chr8:124779883-124781704	MCF-7	breast:	n/a	chr8:124780539-124780548
26	CREB1	chr8:124779947-124781290	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000176510	Chromatin interaction
ENSG00000104537	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000213557	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000156795	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
2	chr8:124776000-124780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:124778400-124780000	Weak transcription	Fetal Heart	heart
4	chr8:124778600-124780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:124778800-124780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:124778800-124780000	Weak transcription	Psoas Muscle	Psoas
7	chr8:124778800-124780000	Flanking Active TSS	HepG2	liver
8	chr8:124779200-124780000	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:124779200-124780000	Enhancers	Small Intestine	intestine
10	chr8:124779400-124780000	Enhancers	Liver	Liver
11	chr8:124779600-124780000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:124779600-124780000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:124779600-124780000	Enhancers	Fetal Intestine Large	intestine
14	chr8:124779600-124780000	Enhancers	K562	blood
15	chr8:124779600-124781400	Active TSS	Fetal Lung	lung
16	chr8:124779800-124780000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:124779800-124780000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:124779800-124780000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:124779800-124780000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr8:124779800-124780000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:124779800-124780000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:124779800-124780000	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:124779800-124780000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:124779800-124780000	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:124779800-124780000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:124779800-124780000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:124779800-124780000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:124779800-124780000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:124779800-124780000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:124779800-124780000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:124779800-124780000	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:124779800-124780000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr8:124779800-124780000	Flanking Active TSS	Fetal Brain Male	brain
34	chr8:124779800-124780000	Flanking Active TSS	Fetal Brain Female	brain
35	chr8:124779800-124780000	Flanking Active TSS	Fetal Kidney	kidney
36	chr8:124779800-124780000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
37	chr8:124779800-124780000	Enhancers	Placenta	Placenta
38	chr8:124779800-124780000	Bivalent Enhancer	Fetal Thymus	thymus
39	chr8:124779800-124780000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:124779800-124780000	Flanking Active TSS	A549	lung
41	chr8:124779800-124780000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr8:124779800-124780000	Enhancers	NHLF	lung
43	chr8:124779800-124780200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:124779800-124780200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:124779800-124780200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:124779800-124780200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr8:124779800-124780200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links