Variant report

Variant	rs73122207
Chromosome Location	chr1:223415859-223415860
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223406394..223408655-chr1:223414030..223416080,2	K562	blood:
2	chr1:223412178..223414771-chr1:223415444..223417698,2	MCF-7	breast:
3	chr1:223413735..223416232-chr1:223417641..223419841,3	MCF-7	breast:
4	chr1:223414246..223416057-chr1:223417530..223419089,2	K562	blood:
5	chr1:223384376..223385879-chr1:223415413..223417921,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1019278	1.00[AMR][1000 genomes]
rs11488546	1.00[AMR][1000 genomes]
rs1341287	1.00[AMR][1000 genomes]
rs1713218	1.00[AMR][1000 genomes]
rs2253649	1.00[AMR][1000 genomes]
rs2487832	1.00[AMR][1000 genomes]
rs28584917	1.00[AMR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs61737415	1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118120	1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][1000 genomes]
rs73120270	1.00[AMR][1000 genomes]
rs73120271	1.00[AMR][1000 genomes]
rs73120274	1.00[AMR][1000 genomes]
rs73120283	1.00[AMR][1000 genomes]
rs73120288	1.00[AMR][1000 genomes]
rs73122203	1.00[AMR][1000 genomes]
rs73122204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122216	1.00[AMR][1000 genomes]
rs73122222	1.00[AMR][1000 genomes]
rs73122236	1.00[AMR][1000 genomes]
rs73122239	1.00[AMR][1000 genomes]
rs73124222	1.00[AMR][1000 genomes]
rs825119	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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
2	chr1:223407800-223416600	Weak transcription	Stomach Mucosa	stomach
3	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
4	chr1:223408400-223417400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:223413000-223420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:223414000-223416000	Weak transcription	K562	blood
7	chr1:223414000-223421000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:223414800-223420600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:223415000-223417800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:223415000-223417800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:223415200-223417600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:223415200-223417600	Weak transcription	Fetal Thymus	thymus
13	chr1:223415200-223418000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:223415200-223421000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:223415600-223416200	Enhancers	HMEC	breast
16	chr1:223415800-223416000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:223415800-223416000	Enhancers	Osteobl	bone
18	chr1:223415800-223416200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:223415800-223416200	Enhancers	Fetal Muscle Trunk	muscle

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