Variant report

Variant	rs2482933
Chromosome Location	chr20:25338445-25338446
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	chr20:25307435..25309771-chr20:25337246..25338964,2	MCF-7	breast:
2	chr20:25328148..25330867-chr20:25336121..25338656,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2072975	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072977	0.88[AMR][1000 genomes]
rs2179638	0.81[EUR][1000 genomes]
rs2227891	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2228976	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2235605	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2235606	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2235607	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2236180	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2254046	0.82[AMR][1000 genomes]
rs2257370	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2258052	0.82[EUR][1000 genomes]
rs2258053	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2261177	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2263205	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2281559	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2294583	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2424701	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424705	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424709	0.82[EUR][1000 genomes]
rs2482908	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2482934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2482938	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2482947	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2500395	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2500403	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2500441	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2500442	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050603	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6138569	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6138573	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6138576	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6138580	0.86[AMR][1000 genomes]
rs6138584	0.86[AMR][1000 genomes]
rs6138595	0.83[AMR][1000 genomes]
rs6138598	0.83[AMR][1000 genomes]
rs6138599	0.83[AMR][1000 genomes]
rs723774	0.88[AMR][1000 genomes]
rs753009	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs878176	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription 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	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1061058	chr20:25327960-25388841	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2482933	GINS1	Cis_1M	lymphoblastoid	RTeQTL
rs2482933	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs2482933	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx
rs2482933	PYGB	cis	Whole Blood	GTEx
rs2482933	PYGB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
2	chr20:25319200-25348400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:25327400-25361400	Weak transcription	Primary T cells from cord blood	blood
4	chr20:25333400-25338800	Enhancers	Brain Substantia Nigra	brain
5	chr20:25333600-25339200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:25333600-25339400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr20:25334000-25338600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:25334000-25339000	Enhancers	Pancreas	Pancrea
9	chr20:25334000-25339400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:25334200-25339200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr20:25334200-25339400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:25334200-25339600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:25334600-25339200	Weak transcription	Esophagus	oesophagus
14	chr20:25334600-25339200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr20:25334600-25341600	Weak transcription	NHLF	lung
16	chr20:25334600-25353600	Weak transcription	Aorta	Aorta
17	chr20:25334600-25357600	Weak transcription	Fetal Muscle Leg	muscle
18	chr20:25334800-25351000	Weak transcription	Fetal Intestine Small	intestine
19	chr20:25334800-25362600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr20:25335000-25339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr20:25335200-25339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:25335600-25341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:25335800-25341400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr20:25335800-25350200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:25336000-25338800	Enhancers	GM12878-XiMat	blood
26	chr20:25336000-25339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:25336000-25341400	Weak transcription	Fetal Lung	lung
28	chr20:25336200-25341400	Weak transcription	Primary B cells from cord blood	blood
29	chr20:25336600-25339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr20:25336600-25339400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:25336600-25339400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:25336800-25339200	Weak transcription	HepG2	liver
33	chr20:25337000-25341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:25337000-25341200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr20:25337000-25341200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr20:25337000-25341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:25337000-25341400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr20:25337000-25370000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr20:25337200-25339400	Enhancers	Brain Hippocampus Middle	brain
40	chr20:25337200-25341200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr20:25337200-25341400	Weak transcription	Ovary	ovary
42	chr20:25337400-25338600	Enhancers	Gastric	stomach
43	chr20:25337400-25339000	Weak transcription	Dnd41	blood
44	chr20:25337400-25339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr20:25337400-25341200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr20:25337400-25341400	Weak transcription	A549	lung
47	chr20:25337400-25341600	Weak transcription	Fetal Stomach	stomach
48	chr20:25337400-25355600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:25337600-25339000	Weak transcription	Lung	lung
50	chr20:25337600-25341200	Weak transcription	Primary hematopoietic stem cells	blood

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