Variant report

Variant	rs45492298
Chromosome Location	chr8:48922457-48922458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
2	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
3	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
4	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
5	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253729	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10097627	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10958450	0.93[ASN][1000 genomes]
rs17287635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3824124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129301	1.00[EUR][1000 genomes]
rs4129302	1.00[EUR][1000 genomes]
rs45480301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45498198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45588533	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833492	1.00[EUR][1000 genomes]
rs8178050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8178085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8178118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9792194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48920400-48922600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:48920600-48922600	Active TSS	GM12878-XiMat	blood
3	chr8:48920600-48922600	Active TSS	HMEC	breast
4	chr8:48921400-48922600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:48921600-48922600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:48921600-48922600	Flanking Active TSS	Dnd41	blood
7	chr8:48921600-48924200	Weak transcription	Pancreas	Pancrea
8	chr8:48921600-48931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:48921600-48931800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:48921600-48932400	Weak transcription	Spleen	Spleen
11	chr8:48921600-48932800	Weak transcription	Left Ventricle	heart
12	chr8:48921600-48934200	Weak transcription	Lung	lung
13	chr8:48921600-48956000	Weak transcription	Esophagus	oesophagus
14	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48921800-48922600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:48921800-48922600	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:48921800-48922600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:48921800-48922600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:48921800-48922600	Enhancers	Brain Substantia Nigra	brain
20	chr8:48921800-48922600	Enhancers	Small Intestine	intestine
21	chr8:48921800-48922800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:48921800-48922800	Enhancers	Liver	Liver
23	chr8:48921800-48923800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:48921800-48924000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:48921800-48924400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:48921800-48931200	Weak transcription	Ovary	ovary
27	chr8:48921800-48931800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:48921800-48936200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:48921800-48943600	Weak transcription	Aorta	Aorta
30	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
33	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:48922000-48922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:48922000-48922600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:48922000-48922600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:48922000-48922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:48922000-48922600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:48922000-48922600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:48922000-48922600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:48922000-48922600	Enhancers	Brain Anterior Caudate	brain
43	chr8:48922000-48922600	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:48922000-48922600	Flanking Active TSS	NH-A	brain
45	chr8:48922000-48922800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:48922000-48923200	Weak transcription	Fetal Intestine Small	intestine
47	chr8:48922000-48924600	Weak transcription	HSMMtube	muscle
48	chr8:48922000-48931800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:48922000-48931800	Weak transcription	Right Ventricle	heart
50	chr8:48922000-48931800	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links