Variant report

Variant	rs1020550
Chromosome Location	chr6:56886336-56886337
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56885537..56887051-chr6:56909421..56911786,2	K562	blood:
2	chr6:56819769..56820736-chr6:56885691..56886579,2	K562	blood:
3	chr6:56882958..56887865-chr6:56889010..56894345,6	K562	blood:
4	chr6:56819911..56820657-chr6:56885661..56886560,4	MCF-7	breast:
5	chr6:56769047..56769912-chr6:56885790..56886530,2	MCF-7	breast:
6	chr6:56876462..56883881-chr6:56884128..56888992,9	K562	blood:
7	chr6:56813824..56816649-chr6:56884972..56886715,2	K562	blood:
8	chr6:56885077..56887433-chr6:56918362..56920349,2	K562	blood:
9	chr6:56881940..56886581-chr6:56889010..56894702,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000168116	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10484410	0.90[ASN][1000 genomes]
rs11398	0.80[ASN][1000 genomes]
rs12190575	0.90[ASN][1000 genomes]
rs12192222	0.90[ASN][1000 genomes]
rs12194288	0.80[ASN][1000 genomes]
rs12194407	0.90[ASN][1000 genomes]
rs12198801	0.90[ASN][1000 genomes]
rs12201039	0.80[ASN][1000 genomes]
rs12211901	0.80[ASN][1000 genomes]
rs12214882	0.90[ASN][1000 genomes]
rs1411578	0.80[ASN][1000 genomes]
rs16888392	0.80[ASN][1000 genomes]
rs17619360	0.90[ASN][1000 genomes]
rs3800018	0.80[ASN][1000 genomes]
rs3800023	0.90[ASN][1000 genomes]
rs3800025	1.00[ASN][1000 genomes]
rs3996934	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3996935	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3996936	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4523090	1.00[ASN][1000 genomes]
rs4631287	1.00[ASN][1000 genomes]
rs6459178	0.90[ASN][1000 genomes]
rs6902125	0.95[ASN][1000 genomes]
rs6936506	0.90[ASN][1000 genomes]
rs72868608	0.80[ASN][1000 genomes]
rs73463742	0.90[ASN][1000 genomes]
rs7744148	1.00[ASN][1000 genomes]
rs7748120	1.00[ASN][1000 genomes]
rs7748453	1.00[ASN][1000 genomes]
rs7753547	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7764446	1.00[ASN][1000 genomes]
rs7771115	0.90[ASN][1000 genomes]
rs9349841	0.95[ASN][1000 genomes]
rs9396247	0.95[ASN][1000 genomes]
rs9396256	1.00[ASN][1000 genomes]
rs986245	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56864600-56890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:56878600-56905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:56879000-56891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:56880800-56888400	Weak transcription	Aorta	Aorta
6	chr6:56883400-56888800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:56885000-56887800	Weak transcription	K562	blood
8	chr6:56885800-56886800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:56886000-56894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:56886200-56886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:56886200-56886400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:56886200-56886400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:56886200-56886400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:56886200-56886400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:56886200-56886400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:56886200-56886400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:56886200-56886600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:56886200-56886600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:56886200-56887000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:56886200-56889400	Enhancers	HUES48 Cell Line	embryonic stem cell

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