Variant report

Variant	rs73459751
Chromosome Location	chr11:47459319-47459320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47457819..47459408-chr11:47461959..47464918,2	MCF-7	breast:
2	chr11:47449067..47450905-chr11:47458013..47460570,2	MCF-7	breast:
3	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:

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

Variant related genes	Relation type
ENSG00000165917	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs34580776	1.00[EUR][1000 genomes]
rs55993545	1.00[EUR][1000 genomes]
rs57830455	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57878668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58841898	1.00[EUR][1000 genomes]
rs59409510	1.00[EUR][1000 genomes]
rs60582355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453709	1.00[EUR][1000 genomes]
rs73453756	1.00[EUR][1000 genomes]
rs73459795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461723	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461779	1.00[EUR][1000 genomes]
rs73461796	1.00[EUR][1000 genomes]
rs73461797	1.00[EUR][1000 genomes]
rs73463785	1.00[EUR][1000 genomes]
rs73465695	1.00[EUR][1000 genomes]
rs73465700	1.00[EUR][1000 genomes]
rs73467344	1.00[EUR][1000 genomes]
rs73467345	1.00[EUR][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:44 , 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	chr11:47449000-47459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
5	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
6	chr11:47455200-47459400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:47456400-47460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47456400-47460400	Weak transcription	HSMMtube	muscle
9	chr11:47456600-47463600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:47456600-47468600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:47457400-47488400	Weak transcription	Gastric	stomach
14	chr11:47457800-47469000	Weak transcription	Spleen	Spleen
15	chr11:47458000-47459600	Weak transcription	Right Atrium	heart
16	chr11:47458800-47459400	Strong transcription	HSMM	muscle
17	chr11:47458800-47459800	Flanking Active TSS	Liver	Liver
18	chr11:47458800-47460000	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:47458800-47460200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:47458800-47460600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:47459000-47459400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:47459000-47459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:47459000-47459600	Enhancers	Fetal Stomach	stomach
24	chr11:47459000-47459800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47459000-47459800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:47459000-47459800	Enhancers	Brain Anterior Caudate	brain
27	chr11:47459000-47459800	Enhancers	Colon Smooth Muscle	Colon
28	chr11:47459000-47459800	Enhancers	Fetal Muscle Leg	muscle
29	chr11:47459000-47459800	Enhancers	Left Ventricle	heart
30	chr11:47459000-47459800	Enhancers	Pancreas	Pancrea
31	chr11:47459000-47459800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:47459000-47459800	Enhancers	Stomach Mucosa	stomach
33	chr11:47459000-47460000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:47459000-47460000	Enhancers	Fetal Intestine Large	intestine
35	chr11:47459000-47460000	Enhancers	Lung	lung
36	chr11:47459000-47460000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:47459200-47459400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:47459200-47459400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:47459200-47459400	Active TSS	HepG2	liver
40	chr11:47459200-47459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:47459200-47459800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:47459200-47459800	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:47459200-47460000	Enhancers	Adipose Nuclei	Adipose
44	chr11:47459200-47460000	Enhancers	Fetal Muscle Trunk	muscle

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