Variant report

Variant	rs73260555
Chromosome Location	chr5:114951626-114951627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114950483..114953448-chr5:115177527..115180006,2	K562	blood:
2	chr5:114938188..114939969-chr5:114950245..114952117,2	K562	blood:
3	chr5:114950362..114952033-chr5:115173544..115175106,2	K562	blood:
4	chr5:114949905..114952217-chr5:114956239..114958053,2	K562	blood:

Variant related genes	Relation type
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000249249	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs56774716	1.00[AFR][1000 genomes]
rs57651143	1.00[AFR][1000 genomes]
rs57806423	1.00[AFR][1000 genomes]
rs58527582	0.90[AFR][1000 genomes]
rs58575550	1.00[AFR][1000 genomes]
rs58727668	0.90[AFR][1000 genomes]
rs59498080	1.00[AFR][1000 genomes]
rs60230535	1.00[AFR][1000 genomes]
rs60326995	1.00[AFR][1000 genomes]
rs6873889	0.90[AFR][1000 genomes]
rs73254573	0.90[AFR][1000 genomes]
rs73254575	0.90[AFR][1000 genomes]
rs73254578	0.90[AFR][1000 genomes]
rs73254582	0.90[AFR][1000 genomes]
rs73254585	0.90[AFR][1000 genomes]
rs73254587	0.90[AFR][1000 genomes]
rs73254592	0.90[AFR][1000 genomes]
rs73254595	0.90[AFR][1000 genomes]
rs73254599	0.90[AFR][1000 genomes]
rs73254601	0.82[AFR][1000 genomes]
rs73256603	0.82[AFR][1000 genomes]
rs73260535	0.90[AFR][1000 genomes]
rs73260536	0.90[AFR][1000 genomes]
rs73260539	0.95[AFR][1000 genomes]
rs73260540	1.00[AFR][1000 genomes]
rs73260542	1.00[AFR][1000 genomes]
rs73260543	1.00[AFR][1000 genomes]
rs73260545	1.00[AFR][1000 genomes]
rs73260548	1.00[AFR][1000 genomes]
rs73260552	1.00[AFR][1000 genomes]
rs73260556	1.00[AFR][1000 genomes]
rs73260562	1.00[AFR][1000 genomes]
rs73260563	1.00[AFR][1000 genomes]
rs73260565	1.00[AFR][1000 genomes]
rs73260567	1.00[AFR][1000 genomes]
rs73260572	1.00[AFR][1000 genomes]
rs73260574	1.00[AFR][1000 genomes]
rs73260579	1.00[AFR][1000 genomes]
rs73260580	1.00[AFR][1000 genomes]
rs73260583	1.00[AFR][1000 genomes]
rs73260584	1.00[AFR][1000 genomes]
rs73260585	1.00[AFR][1000 genomes]
rs73260586	1.00[AFR][1000 genomes]
rs73264716	1.00[AFR][1000 genomes]
rs73264723	1.00[AFR][1000 genomes]
rs73264732	1.00[AFR][1000 genomes]
rs73264737	0.87[AFR][1000 genomes]
rs73264754	0.87[AFR][1000 genomes]
rs73264767	0.87[AFR][1000 genomes]
rs7341161	1.00[AFR][1000 genomes]
rs7722595	1.00[AFR][1000 genomes]
rs7722614	0.91[AFR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114957200	Weak transcription	Small Intestine	intestine
2	chr5:114938200-114958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:114938600-114951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:114938600-114951800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:114938600-114951800	Weak transcription	Esophagus	oesophagus
7	chr5:114938600-114958000	Weak transcription	Ovary	ovary
8	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:114938800-114951800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:114938800-114951800	Weak transcription	Thymus	Thymus
11	chr5:114938800-114951800	Weak transcription	NHLF	lung
12	chr5:114938800-114952000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:114938800-114953800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:114938800-114954000	Weak transcription	Fetal Brain Female	brain
15	chr5:114938800-114954200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:114938800-114954200	Weak transcription	Colonic Mucosa	Colon
17	chr5:114938800-114957400	Weak transcription	Aorta	Aorta
18	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
19	chr5:114938800-114960000	Weak transcription	Lung	lung
20	chr5:114939000-114955200	Weak transcription	Fetal Heart	heart
21	chr5:114939000-114957200	Weak transcription	Fetal Brain Male	brain
22	chr5:114939000-114957200	Weak transcription	Fetal Intestine Small	intestine
23	chr5:114939000-114957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:114939000-114957400	Weak transcription	Pancreas	Pancrea
25	chr5:114939000-114958000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:114939000-114958000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:114939000-114958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:114939000-114958800	Weak transcription	Fetal Stomach	stomach
29	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:114939200-114951800	Weak transcription	NHEK	skin
32	chr5:114939200-114952600	Weak transcription	Stomach Mucosa	stomach
33	chr5:114939200-114954000	Weak transcription	Brain Anterior Caudate	brain
34	chr5:114939200-114954200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:114939200-114954600	Weak transcription	Brain Substantia Nigra	brain
36	chr5:114939200-114957200	Weak transcription	Brain Angular Gyrus	brain
37	chr5:114939200-114958800	Weak transcription	Spleen	Spleen
38	chr5:114940400-114957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:114941000-114959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:114941400-114958000	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:114944000-114954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:114944000-114954800	Weak transcription	Psoas Muscle	Psoas
43	chr5:114944200-114953800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:114944200-114957200	Weak transcription	Gastric	stomach
45	chr5:114944600-114954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:114944600-114954200	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:114945400-114958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:114945600-114956400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:114945800-114956800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:114945800-114958200	Strong transcription	Primary B cells from cord blood	blood

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