Variant report

Variant	rs45617144
Chromosome Location	chr11:47459469-47459470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47449067..47450905-chr11:47458013..47460570,2	MCF-7	breast:
2	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMC3-2	chr11:47459315-47459598	NONHSAT021248

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12285933	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45547231	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45603036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895102	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61895104	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897423	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
4	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
5	chr11:47456400-47460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47456400-47460400	Weak transcription	HSMMtube	muscle
7	chr11:47456600-47463600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:47456600-47468600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:47457400-47488400	Weak transcription	Gastric	stomach
12	chr11:47457800-47469000	Weak transcription	Spleen	Spleen
13	chr11:47458000-47459600	Weak transcription	Right Atrium	heart
14	chr11:47458800-47459800	Flanking Active TSS	Liver	Liver
15	chr11:47458800-47460000	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:47458800-47460200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:47458800-47460600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:47459000-47459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:47459000-47459600	Enhancers	Fetal Stomach	stomach
20	chr11:47459000-47459800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:47459000-47459800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47459000-47459800	Enhancers	Brain Anterior Caudate	brain
23	chr11:47459000-47459800	Enhancers	Colon Smooth Muscle	Colon
24	chr11:47459000-47459800	Enhancers	Fetal Muscle Leg	muscle
25	chr11:47459000-47459800	Enhancers	Left Ventricle	heart
26	chr11:47459000-47459800	Enhancers	Pancreas	Pancrea
27	chr11:47459000-47459800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:47459000-47459800	Enhancers	Stomach Mucosa	stomach
29	chr11:47459000-47460000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47459000-47460000	Enhancers	Fetal Intestine Large	intestine
31	chr11:47459000-47460000	Enhancers	Lung	lung
32	chr11:47459000-47460000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:47459200-47459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:47459200-47459800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:47459200-47459800	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:47459200-47460000	Enhancers	Adipose Nuclei	Adipose
37	chr11:47459200-47460000	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:47459400-47459800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:47459400-47459800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:47459400-47459800	Enhancers	Fetal Intestine Small	intestine
41	chr11:47459400-47459800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:47459400-47459800	Bivalent/Poised TSS	HepG2	liver
43	chr11:47459400-47462000	Weak transcription	HSMM	muscle

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