Variant report

Variant	rs73120283
Chromosome Location	chr1:223394962-223394963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223390971..223394178-chr1:223394511..223397786,3	K562	blood:
2	chr1:223306512..223308527-chr1:223393691..223395238,2	K562	blood:
3	chr1:223394804..223398187-chr1:223403949..223407417,5	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

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]
rs34071437	0.87[AFR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs61737415	0.86[AFR][1000 genomes];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]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120250	0.87[AFR][1000 genomes]
rs73120252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120261	0.87[AFR][1000 genomes]
rs73120265	0.87[AFR][1000 genomes]
rs73120270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120288	0.86[AFR][1000 genomes];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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:223390400-223406400	Weak transcription	Gastric	stomach
3	chr1:223390800-223395000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:223392800-223396400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:223392800-223397200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:223393000-223395000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:223393000-223395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:223393400-223397000	Strong transcription	Ovary	ovary
10	chr1:223393400-223402000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:223394000-223395000	Weak transcription	Esophagus	oesophagus
12	chr1:223394000-223396200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:223394000-223398200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:223394000-223400800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:223394600-223406800	Weak transcription	Pancreas	Pancrea
16	chr1:223394800-223395400	Strong transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:223394800-223395800	Weak transcription	Primary T cells from cord blood	blood

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