Variant report

Variant	rs73223888
Chromosome Location	chr2:20310505-20310506
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:20310160-20310778	U2OS	brain:	n/a	n/a
2	POLR2A	chr2:20308817-20310980	K562	blood:	n/a	n/a
3	YY1	chr2:20310209-20310509	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20301755..20305316-chr2:20309151..20312503,4	MCF-7	breast:
2	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
3	chr2:20307981..20311026-chr2:20439655..20442386,3	MCF-7	breast:
4	chr2:20308923..20310698-chr2:20430209..20431770,2	MCF-7	breast:
5	chr2:20310034..20311974-chr2:20398183..20400238,2	MCF-7	breast:
6	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
7	chr2:20303170..20305756-chr2:20308003..20310603,2	MCF-7	breast:
8	chr2:20309126..20310767-chr2:20432365..20434284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000115884	Chromatin interaction
ENSG00000235411	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16987368	0.88[EUR][1000 genomes]
rs16987372	0.88[EUR][1000 genomes]
rs34481015	0.82[AFR][1000 genomes]
rs61418833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73223878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73223879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73223884	0.92[ASN][1000 genomes]
rs73223886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
4	chr2:20307000-20311200	Weak transcription	Esophagus	oesophagus
5	chr2:20307000-20311200	Weak transcription	Pancreas	Pancrea
6	chr2:20308000-20310600	Weak transcription	K562	blood
7	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20308600-20311200	Enhancers	Fetal Intestine Large	intestine
9	chr2:20308800-20313000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:20309000-20311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:20309000-20313200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
13	chr2:20309200-20310600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:20309200-20310600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:20309200-20310800	Weak transcription	Stomach Mucosa	stomach
16	chr2:20309200-20311200	Weak transcription	Colonic Mucosa	Colon
17	chr2:20309400-20310600	Enhancers	HepG2	liver
18	chr2:20309400-20311000	Weak transcription	A549	lung
19	chr2:20309800-20310600	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr2:20310000-20313400	Weak transcription	NHEK	skin
21	chr2:20310200-20310600	Active TSS	Gastric	stomach
22	chr2:20310200-20313400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20310200-20313400	Weak transcription	HMEC	breast
24	chr2:20310400-20312000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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