Variant report

Variant	rs11800654
Chromosome Location	chr1:220920386-220920387
allele	C/T
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	ZNF263	chr1:220919965-220920432	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220915318..220916858-chr1:220919802..220921393,2	MCF-7	breast:
2	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
ENSG00000186205	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10158764	1.00[AMR][1000 genomes]
rs10495148	1.00[AMR][1000 genomes]
rs11799728	1.00[AMR][1000 genomes]
rs11801239	1.00[AMR][1000 genomes]
rs11802247	1.00[AMR][1000 genomes]
rs11802248	1.00[AMR][1000 genomes]
rs11806648	1.00[AMR][1000 genomes]
rs11806710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807413	1.00[AMR][1000 genomes]
rs11808530	1.00[AMR][1000 genomes]
rs11811042	1.00[AMR][1000 genomes]
rs11811445	1.00[AMR][1000 genomes]
rs11811872	1.00[AMR][1000 genomes]
rs17007924	1.00[AMR][1000 genomes]
rs17008033	1.00[AMR][1000 genomes]
rs17008084	1.00[AMR][1000 genomes]
rs17008159	1.00[AMR][1000 genomes]
rs17008391	1.00[AMR][1000 genomes]
rs3849285	1.00[AMR][1000 genomes]
rs3897868	1.00[AMR][1000 genomes]
rs3897869	1.00[AMR][1000 genomes]
rs61195656	1.00[AMR][1000 genomes]
rs6665732	1.00[AMR][1000 genomes]
rs6670387	1.00[AMR][1000 genomes]
rs6696558	1.00[AMR][1000 genomes]
rs7519187	1.00[AMR][1000 genomes]
rs7523054	1.00[AMR][1000 genomes]
rs7524156	1.00[AMR][1000 genomes]
rs7530121	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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv160470	chr1:220919015-220922779	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220906400-220921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:220908400-220920800	Weak transcription	Pancreas	Pancrea
3	chr1:220915800-220921400	Weak transcription	Gastric	stomach
4	chr1:220916200-220921200	Weak transcription	Lung	lung
5	chr1:220918600-220921200	Weak transcription	Esophagus	oesophagus
6	chr1:220919400-220920600	Enhancers	Fetal Heart	heart
7	chr1:220919400-220920800	Enhancers	Fetal Intestine Large	intestine
8	chr1:220919400-220920800	Enhancers	Fetal Intestine Small	intestine
9	chr1:220919600-220920800	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:220919800-220920600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr1:220919800-220920600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:220919800-220920800	Enhancers	Liver	Liver
13	chr1:220919800-220920800	Enhancers	Fetal Lung	lung
14	chr1:220919800-220920800	Bivalent Enhancer	HepG2	liver
15	chr1:220920000-220920800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:220920000-220920800	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:220920000-220920800	Enhancers	A549	lung
18	chr1:220920000-220921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:220920200-220920400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr1:220920200-220920400	Enhancers	Aorta	Aorta
21	chr1:220920200-220920600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr1:220920200-220920800	Enhancers	Fetal Stomach	stomach
23	chr1:220920200-220921000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr1:220920200-220921200	Enhancers	Placenta	Placenta

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