Variant report

Variant	rs73120209
Chromosome Location	chr1:223356654-223356655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223353076..223355823-chr1:223356610..223358901,2	K562	blood:
2	chr1:223347773..223350235-chr1:223355257..223357879,2	K562	blood:

Variant related genes	Relation type
ENSG00000226601	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

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]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	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]
rs73120206	0.81[AFR][1000 genomes]
rs73120222	0.81[AFR][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	1.00[AMR][1000 genomes]
rs73122205	1.00[AMR][1000 genomes]
rs73122207	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
3	chr1:223352800-223358600	Enhancers	Primary T cells from cord blood	blood
4	chr1:223353000-223362000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:223353800-223357200	Enhancers	HMEC	breast
6	chr1:223354400-223357200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:223354400-223357600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:223355400-223356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:223355400-223357600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:223355600-223358000	Weak transcription	Stomach Mucosa	stomach
11	chr1:223355600-223358400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:223355600-223358600	Weak transcription	Esophagus	oesophagus
13	chr1:223356200-223361400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:223356400-223357000	Enhancers	NHDF-Ad	bronchial
15	chr1:223356400-223357200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:223356600-223356800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:223356600-223357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:223356600-223357200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:223356600-223357200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:223356600-223357400	Enhancers	NHEK	skin
21	chr1:223356600-223362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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