Variant report

Variant	rs60456982
Chromosome Location	chr2:40322602-40322603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40322332..40325510-chr2:40329886..40332730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227028	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11677316	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11681009	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11688696	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11689097	0.80[EUR][1000 genomes]
rs11693110	0.83[ASN][1000 genomes]
rs12151434	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12151437	0.80[ASN][1000 genomes]
rs13023072	0.81[ASN][1000 genomes]
rs2192723	0.88[EUR][1000 genomes]
rs3749057	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3791998	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3792000	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58528267	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59426043	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59980149	0.88[EUR][1000 genomes]
rs60868281	0.88[EUR][1000 genomes]
rs61562635	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7422736	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40322800	Enhancers	Fetal Lung	lung
2	chr2:40320000-40325600	Enhancers	HSMMtube	muscle
3	chr2:40320000-40325800	Enhancers	NHLF	lung
4	chr2:40320000-40326600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:40320000-40332200	Enhancers	HSMM	muscle
6	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
7	chr2:40320200-40323000	Enhancers	Dnd41	blood
8	chr2:40320200-40325000	Enhancers	Fetal Heart	heart
9	chr2:40320600-40323800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40320800-40322800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:40321000-40326000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:40321200-40323400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:40321200-40326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:40321200-40327600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
16	chr2:40321400-40324200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:40321400-40327000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:40321600-40322800	Enhancers	Fetal Brain Male	brain
19	chr2:40321600-40325200	Enhancers	NHEK	skin
20	chr2:40321800-40322800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:40321800-40324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40321800-40325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:40321800-40325600	Enhancers	HMEC	breast
24	chr2:40322000-40323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:40322000-40324200	Enhancers	HUVEC	blood vessel
26	chr2:40322000-40324800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:40322000-40325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40322000-40330200	Enhancers	NH-A	brain
29	chr2:40322200-40323400	Weak transcription	Osteobl	bone
30	chr2:40322200-40324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:40322400-40324800	Enhancers	A549	lung
33	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:40322600-40322800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:40322600-40323200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:40322600-40323400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:40322600-40323600	Enhancers	Stomach Mucosa	stomach
38	chr2:40322600-40323800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix

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