Variant report

Variant	rs57830455
Chromosome Location	chr11:47469945-47469946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47461517..47464157-chr11:47469005..47471095,2	K562	blood:
2	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
3	chr11:47461993..47464922-chr11:47469448..47471026,2	MCF-7	breast:
4	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165917	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000252327	Chromatin interaction

Extended variants
information (count: 26 )
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]
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]
rs73459751	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459799	1.00[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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
3	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47457400-47488400	Weak transcription	Gastric	stomach
6	chr11:47459800-47470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:47460000-47470800	Weak transcription	Lung	lung
10	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:47464000-47481000	Weak transcription	NHEK	skin
13	chr11:47465000-47480800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:47465200-47475600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:47465400-47470400	Weak transcription	Left Ventricle	heart
16	chr11:47465800-47480800	Weak transcription	Primary T cells from cord blood	blood
17	chr11:47466000-47471200	Weak transcription	Liver	Liver
18	chr11:47466000-47475600	Weak transcription	Fetal Thymus	thymus
19	chr11:47467800-47475600	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:47468800-47482200	Weak transcription	HUVEC	blood vessel
21	chr11:47469000-47470400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:47469000-47471400	Enhancers	HepG2	liver
23	chr11:47469200-47470200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:47469200-47471400	Enhancers	Placenta	Placenta
25	chr11:47469400-47470600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:47469400-47470800	Active TSS	HSMMtube	muscle
27	chr11:47469400-47471000	Enhancers	Right Ventricle	heart
28	chr11:47469400-47471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:47469600-47470600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:47469600-47470600	Active TSS	Fetal Muscle Trunk	muscle
31	chr11:47469600-47470800	Active TSS	Fetal Muscle Leg	muscle
32	chr11:47469600-47470800	Active TSS	Psoas Muscle	Psoas
33	chr11:47469600-47470800	Active TSS	HSMM	muscle
34	chr11:47469800-47470000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:47469800-47470200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:47469800-47471200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:47469800-47471600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47469800-47471800	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links