Variant report

Variant	rs28448531
Chromosome Location	chr8:8871767-8871768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr8:8871216-8872041	HCT-116	colon:	n/a	n/a
2	FOSL1	chr8:8871402-8872169	HCT-116	colon:	n/a	n/a
3	MAFK	chr8:8871612-8871825	IMR90	lung:	n/a	n/a
4	POLR2A	chr8:8871514-8871859	HCT-116	colon:	n/a	n/a
5	JUND	chr8:8871188-8872095	HCT-116	colon:	n/a	n/a
6	FOSL1	chr8:8871264-8871996	HCT-116	colon:	n/a	n/a
7	TEAD4	chr8:8871450-8871970	ECC-1	luminal epithelium:	n/a	n/a
8	FOS	chr8:8871252-8871937	HUVEC	blood vessel:	n/a	n/a
9	TEAD4	chr8:8871493-8872029	HCT-116	colon:	n/a	n/a
10	POLR2A	chr8:8871376-8871910	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
12	SP1	chr8:8871332-8872144	HCT-116	colon:	n/a	n/a
13	YY1	chr8:8871527-8871824	HCT-116	colon:	n/a	n/a
14	POLR2A	chr8:8871510-8871801	HUVEC	blood vessel:	n/a	n/a
15	TEAD4	chr8:8871386-8871981	HCT-116	colon:	n/a	n/a
16	GATA2	chr8:8870834-8871854	HUVEC	blood vessel:	n/a	n/a
17	TEAD4	chr8:8871399-8872004	ECC-1	luminal epithelium:	n/a	n/a
18	SP1	chr8:8870792-8872981	HCT-116	colon:	n/a	n/a
19	POLR2A	chr8:8871426-8871903	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:8859811..8861702-chr8:8869833..8872508,3	MCF-7	breast:
2	chr8:8866252..8868654-chr8:8871206..8873425,2	MCF-7	breast:
3	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

No data

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28398439	1.00[AFR][1000 genomes]
rs28405982	1.00[AFR][1000 genomes]
rs28484952	0.87[AFR][1000 genomes]
rs28542293	1.00[AFR][1000 genomes]
rs28550340	1.00[AFR][1000 genomes]
rs28587309	0.87[AFR][1000 genomes]
rs28689085	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
4	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:8861800-8875000	Weak transcription	Gastric	stomach
9	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
10	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
11	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
12	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
13	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
20	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:8861800-8892200	Weak transcription	Ovary	ovary
22	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
23	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
25	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:8865400-8872000	Strong transcription	Dnd41	blood
27	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:8866800-8872800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:8867000-8874200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:8867200-8872000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:8867800-8874800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:8868600-8875000	Weak transcription	Brain Substantia Nigra	brain
35	chr8:8868800-8872000	Strong transcription	Fetal Muscle Leg	muscle
36	chr8:8868800-8872600	Enhancers	NHLF	lung
37	chr8:8868800-8873000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
39	chr8:8869000-8871800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr8:8869000-8872000	Strong transcription	Fetal Brain Female	brain
41	chr8:8869000-8872400	Enhancers	HUVEC	blood vessel
42	chr8:8869000-8872600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:8869000-8873000	Strong transcription	Primary B cells from cord blood	blood
44	chr8:8869000-8880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:8869200-8876400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:8869400-8871800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr8:8869400-8872000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:8869600-8871800	Strong transcription	Fetal Lung	lung
49	chr8:8869800-8871800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:8869800-8872000	Genic enhancers	Osteobl	bone

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