Variant report

Variant	rs45498198
Chromosome Location	chr8:48936280-48936281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48920254..48923221-chr8:48935046..48937376,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169139	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10097627	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10958450	0.85[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];0.85[ASN][1000 genomes]
rs45492298	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];0.94[ASN][1000 genomes]
rs6987267	1.00[AMR][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];0.88[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	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	nsv968508	chr8:48924846-48957474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921600-48956000	Weak transcription	Esophagus	oesophagus
2	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:48921800-48943600	Weak transcription	Aorta	Aorta
4	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
7	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:48922000-48957600	Weak transcription	Colonic Mucosa	Colon
10	chr8:48922200-48945000	Weak transcription	Psoas Muscle	Psoas
11	chr8:48922200-48947400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:48922400-48942200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:48922400-48955600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:48922400-48957800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:48922400-48958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
17	chr8:48922600-48936600	Weak transcription	Brain Substantia Nigra	brain
18	chr8:48922600-48942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:48922600-48945200	Weak transcription	NH-A	brain
20	chr8:48922600-48955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:48922600-48956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:48922600-48956200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:48922600-48956600	Weak transcription	Brain Anterior Caudate	brain
24	chr8:48922600-48956800	Weak transcription	NHLF	lung
25	chr8:48922600-48957800	Weak transcription	HUVEC	blood vessel
26	chr8:48923800-48940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:48924600-48953800	Weak transcription	Pancreas	Pancrea
28	chr8:48925000-48939000	Weak transcription	K562	blood
29	chr8:48925000-48957600	Weak transcription	HSMMtube	muscle
30	chr8:48926800-48938000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:48930200-48940200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:48930400-48940400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:48931000-48940400	Weak transcription	Fetal Heart	heart
34	chr8:48931600-48936400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:48931600-48936600	Strong transcription	Fetal Intestine Small	intestine
36	chr8:48931800-48936600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:48931800-48936800	Strong transcription	Fetal Thymus	thymus
38	chr8:48931800-48938400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:48931800-48938400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:48932000-48937600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:48932400-48936400	Strong transcription	Adipose Nuclei	Adipose
42	chr8:48932400-48940400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48932800-48936400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:48932800-48939600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:48932800-48957200	Weak transcription	Spleen	Spleen
46	chr8:48933000-48947400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:48933000-48956000	Weak transcription	Right Ventricle	heart
48	chr8:48933000-48956600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:48933000-48956800	Weak transcription	Gastric	stomach
50	chr8:48933200-48938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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