Variant report

Variant	rs28542293
Chromosome Location	chr8:8872228-8872229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr8:8872210-8872983	HCT-116	colon:	n/a	n/a
2	CEBPB	chr8:8872205-8872930	HCT-116	colon:	n/a	n/a
3	SP1	chr8:8870792-8872981	HCT-116	colon:	n/a	n/a

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:

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]
rs28448531	1.00[AFR][1000 genomes]
rs28484952	0.87[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:123 , 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	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:8866800-8872800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:8867000-8874200	Weak transcription	Brain Germinal Matrix	brain
31	chr8:8867800-8874800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:8868600-8875000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:8868800-8872600	Enhancers	NHLF	lung
34	chr8:8868800-8873000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
36	chr8:8869000-8872400	Enhancers	HUVEC	blood vessel
37	chr8:8869000-8872600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:8869000-8873000	Strong transcription	Primary B cells from cord blood	blood
39	chr8:8869000-8880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:8869200-8876400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:8870000-8872800	Genic enhancers	K562	blood
42	chr8:8870000-8874600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:8870000-8879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:8870200-8874000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:8870200-8874800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:8870200-8883600	Weak transcription	Stomach Mucosa	stomach
47	chr8:8870400-8872600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:8870400-8873200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:8870600-8872400	Enhancers	NHDF-Ad	bronchial
50	chr8:8870600-8872600	Strong transcription	Thymus	Thymus

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