Variant report

Variant	rs28675154
Chromosome Location	chr8:8793057-8793058
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	EGR1	chr8:8792920-8793115	K562	blood:	n/a	n/a
2	EGR1	chr8:8792954-8793147	K562	blood:	n/a	n/a
3	USF1	chr8:8792875-8793068	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr8:8792902-8793147	K562	blood:	n/a	n/a
5	USF1	chr8:8792883-8793159	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8792434..8796663-chr8:8799601..8802595,4	K562	blood:
2	chr8:8791750..8794485-chr8:8798173..8800628,2	K562	blood:

Variant related genes	Relation type
ENSG00000270966	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs36056437	0.93[ASN][1000 genomes]
rs55851339	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56076774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102003	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192282	1.00[EUR][1000 genomes]
rs73192289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73192291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73192296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73514371	0.80[ASN][1000 genomes]
rs7816099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:8779800-8793600	Weak transcription	Right Ventricle	heart
3	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:8788200-8796400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:8791400-8794000	Enhancers	Placenta	Placenta
12	chr8:8791600-8799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:8792400-8800200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:8792600-8793400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:8792600-8793400	Enhancers	Osteobl	bone
16	chr8:8792600-8793600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:8792600-8793600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:8792600-8793800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:8792600-8798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:8792800-8793200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:8792800-8793200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8792800-8793200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:8792800-8793200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:8792800-8793200	Enhancers	Esophagus	oesophagus
25	chr8:8792800-8793200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr8:8792800-8793400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:8792800-8793400	Enhancers	Liver	Liver
28	chr8:8792800-8793400	Enhancers	Right Atrium	heart
29	chr8:8792800-8793400	Enhancers	HUVEC	blood vessel
30	chr8:8792800-8793600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr8:8792800-8793800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr8:8792800-8794800	Enhancers	K562	blood
33	chr8:8793000-8793200	Enhancers	Left Ventricle	heart
34	chr8:8793000-8793200	Bivalent Enhancer	NH-A	brain
35	chr8:8793000-8793400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:8793000-8793400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr8:8793000-8793400	Enhancers	Thymus	Thymus
38	chr8:8793000-8793800	Enhancers	Fetal Brain Male	brain
39	chr8:8793000-8794200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:8793000-8802600	Weak transcription	Small Intestine	intestine

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