Variant report

Variant	rs7551783
Chromosome Location	chr1:223856196-223856197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:223856077-223856479	T-47D	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223850712..223853354-chr1:223854192..223856571,2	MCF-7	breast:
2	chr1:223836208..223847031-chr1:223849408..223858826,22	MCF-7	breast:
3	chr1:223840282..223843675-chr1:223851675..223856291,7	MCF-7	breast:
4	chr1:223825136..223827090-chr1:223853987..223856973,2	MCF-7	breast:
5	chr1:223348196..223351831-chr1:223853498..223856683,4	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN8	TF binding region
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10753427	0.81[ASN][1000 genomes]
rs10799550	0.87[EUR][1000 genomes]
rs10916015	0.81[ASN][1000 genomes]
rs12030569	0.81[ASN][1000 genomes]
rs12034086	0.81[ASN][1000 genomes]
rs12042187	0.81[ASN][1000 genomes]
rs12042337	0.81[ASN][1000 genomes]
rs12567519	0.96[EUR][1000 genomes]
rs12568612	0.82[YRI][hapmap];0.96[EUR][1000 genomes]
rs17556570	0.96[EUR][1000 genomes]
rs1857549	0.81[ASN][1000 genomes]
rs1936525	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41307690	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4511081	0.89[EUR][1000 genomes]
rs4653522	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59990581	0.86[EUR][1000 genomes]
rs61450747	0.87[EUR][1000 genomes]
rs61822582	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61822583	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61822586	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822630	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61822631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822632	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61822633	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61822634	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61822635	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61822636	0.96[EUR][1000 genomes]
rs61823962	0.92[EUR][1000 genomes]
rs61823965	0.89[EUR][1000 genomes]
rs61825227	0.88[EUR][1000 genomes]
rs6656416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690568	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6702314	0.90[EUR][1000 genomes]
rs6702430	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
6	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription 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	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7551783	CAPN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223851800-223857000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:223853400-223856600	Weak transcription	Lung	lung
3	chr1:223853400-223856800	Enhancers	HMEC	breast
4	chr1:223853400-223857000	Enhancers	Stomach Mucosa	stomach
5	chr1:223853800-223856200	Enhancers	NHEK	skin
6	chr1:223853800-223856600	Weak transcription	Esophagus	oesophagus
7	chr1:223853800-223857000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:223853800-223858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:223854800-223857000	Enhancers	Colonic Mucosa	Colon
10	chr1:223855000-223857000	Enhancers	Gastric	stomach
11	chr1:223855400-223859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:223855600-223856800	Enhancers	Pancreas	Pancrea
13	chr1:223855800-223857000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:223855800-223857400	Weak transcription	NHDF-Ad	bronchial
15	chr1:223855800-223865800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:223856000-223858200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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