Variant report

Variant	rs1080838
Chromosome Location	chr1:45150383-45150384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45147664..45150642-chr1:45151686..45153747,2	MCF-7	breast:
2	chr1:45146220..45150573-chr1:45184890..45188749,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2224403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57093022	0.98[AFR][1000 genomes]
rs58306497	0.98[AFR][1000 genomes]
rs59943355	0.98[AFR][1000 genomes]
rs60221705	0.98[AFR][1000 genomes]
rs60355652	0.98[AFR][1000 genomes]
rs60528709	0.98[AFR][1000 genomes]
rs60547918	0.98[AFR][1000 genomes]
rs61789885	1.00[ASN][1000 genomes]
rs6678831	1.00[ASN][1000 genomes]
rs7512181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7512488	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7519080	0.80[AFR][1000 genomes]
rs7549471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7549579	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45141000-45154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45141000-45154800	Weak transcription	Ovary	ovary
3	chr1:45141200-45164400	Weak transcription	Fetal Brain Female	brain
4	chr1:45142000-45158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:45142000-45159400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:45142800-45151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:45143600-45160600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:45143600-45171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:45145000-45151800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:45145000-45154400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:45145000-45157000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:45145200-45150400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:45145600-45151800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:45145800-45153800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:45146600-45158800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:45147600-45152200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:45147800-45152200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:45148000-45157200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:45148200-45154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:45148200-45154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:45148200-45154600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:45148200-45155000	Weak transcription	Pancreas	Pancrea
24	chr1:45148400-45151000	Enhancers	HepG2	liver
25	chr1:45148800-45154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:45149000-45152200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:45149000-45154400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:45149000-45154600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:45149400-45166000	Weak transcription	Liver	Liver
30	chr1:45149600-45151200	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:45149600-45151200	Enhancers	Fetal Thymus	thymus
32	chr1:45149600-45151800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:45150000-45150600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:45150000-45150600	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:45150000-45150600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:45150200-45150600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:45150200-45150600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:45150200-45150600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:45150200-45150600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:45150200-45150600	Enhancers	Spleen	Spleen
41	chr1:45150200-45150600	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:45150200-45150800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:45150200-45150800	Enhancers	Thymus	Thymus
44	chr1:45150200-45151000	Enhancers	Primary B cells from cord blood	blood

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