Variant report

Variant	rs57479473
Chromosome Location	chr11:46691317-46691318
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:46691298-46691819	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr11:46691316-46691698	K562	blood:	n/a	n/a
3	POLR2A	chr11:46691275-46691619	K562	blood:	n/a	n/a
4	CTCF	chr11:46691007-46691851	A549	lung:	n/a	n/a
5	GATA1	chr11:46690575-46691720	PBDE	blood:	n/a	chr11:46690898-46690907
6	CTCF	chr11:46691273-46691841	HCT-116	colon:	n/a	n/a
7	TAL1	chr11:46691309-46691654	K562	blood:	n/a	chr11:46691511-46691526 chr11:46691514-46691525 chr11:46691511-46691526 chr11:46691511-46691526
8	CTCF	chr11:46691240-46691752	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
2	chr11:46689739..46692664-chr11:46704932..46706618,2	K562	blood:
3	chr11:46689858..46691687-chr11:46723273..46724882,2	MCF-7	breast:

Variant related genes	Relation type
ATG13	TF binding region
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11038924	1.00[AMR][1000 genomes]
rs12099188	1.00[AMR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs36017347	1.00[AMR][1000 genomes]
rs57328824	1.00[AMR][1000 genomes]
rs57923752	1.00[AMR][1000 genomes]
rs58634563	1.00[AMR][1000 genomes]
rs59488332	1.00[AMR][1000 genomes]
rs59664414	1.00[AMR][1000 genomes]
rs60026983	1.00[AMR][1000 genomes]
rs60147143	1.00[AMR][1000 genomes]
rs73449906	1.00[AMR][1000 genomes]
rs73449908	1.00[AMR][1000 genomes]
rs73449917	1.00[AMR][1000 genomes]
rs73449920	1.00[AMR][1000 genomes]
rs73449937	1.00[AMR][1000 genomes]
rs73449939	1.00[AMR][1000 genomes]
rs73449943	1.00[AMR][1000 genomes]
rs73449949	1.00[AMR][1000 genomes]
rs73449951	1.00[AMR][1000 genomes]
rs73449956	1.00[AMR][1000 genomes]
rs73449974	1.00[AMR][1000 genomes]
rs73449985	1.00[AMR][1000 genomes]
rs73449986	1.00[AMR][1000 genomes]
rs73450002	1.00[AMR][1000 genomes]
rs73451811	1.00[AMR][1000 genomes]
rs73451819	1.00[AMR][1000 genomes]
rs73451822	1.00[AMR][1000 genomes]
rs73451825	1.00[AMR][1000 genomes]
rs73451848	1.00[AMR][1000 genomes]
rs73451858	1.00[AMR][1000 genomes]
rs73451860	1.00[AMR][1000 genomes]
rs73451863	1.00[AMR][1000 genomes]
rs73451865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454010	0.93[AFR][1000 genomes]
rs73454018	0.93[AFR][1000 genomes]
rs73454026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AMR][1000 genomes]
rs73454046	1.00[AMR][1000 genomes]
rs73454052	1.00[AMR][1000 genomes]
rs73454062	1.00[AMR][1000 genomes]
rs73467964	1.00[AMR][1000 genomes]
rs73467966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
6	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
9	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
12	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
13	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:46677200-46691600	Strong transcription	Primary B cells from cord blood	blood
17	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
18	chr11:46678400-46694000	Weak transcription	Stomach Mucosa	stomach
19	chr11:46679400-46695200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:46679400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:46680000-46692200	Strong transcription	Placenta	Placenta
22	chr11:46680400-46695000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:46681400-46695000	Strong transcription	Liver	Liver
24	chr11:46681800-46695000	Strong transcription	Fetal Intestine Small	intestine
25	chr11:46682000-46691600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:46682000-46695200	Strong transcription	Fetal Intestine Large	intestine
27	chr11:46682800-46695600	Strong transcription	Hela-S3	cervix
28	chr11:46683400-46692200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:46683400-46695200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:46683400-46695400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:46683400-46695400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:46683400-46695400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:46683600-46691600	Strong transcription	Colonic Mucosa	Colon
34	chr11:46683600-46693200	Strong transcription	GM12878-XiMat	blood
35	chr11:46683600-46693400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:46683600-46695600	Strong transcription	HepG2	liver
37	chr11:46683800-46692200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:46684200-46691400	Strong transcription	A549	lung
39	chr11:46685000-46693000	Strong transcription	Pancreas	Pancrea
40	chr11:46685000-46694000	Strong transcription	Gastric	stomach
41	chr11:46685200-46695400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:46685200-46695600	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr11:46685400-46695400	Strong transcription	NHEK	skin
44	chr11:46685400-46695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:46685400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:46685600-46691400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr11:46686200-46696000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:46686400-46692400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:46686400-46695000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:46686600-46691400	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links