Variant report

Variant	rs73260584
Chromosome Location	chr5:114964382-114964383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114878501..114880649-chr5:114962329..114964863,2	K562	blood:
2	chr5:114949317..114953007-chr5:114964090..114967220,3	K562	blood:
3	chr5:114961103..114964725-chr5:115175944..115179319,4	K562	blood:

Variant related genes	Relation type
ENSG00000251201	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000145782	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]
rs73260555	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]
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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:114962600-114965000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:114962600-114965400	Weak transcription	K562	blood
5	chr5:114962600-114967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:114962600-114967400	Weak transcription	Fetal Lung	lung
7	chr5:114962600-114967600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:114962600-114967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:114962600-114968400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:114962600-114968400	Weak transcription	Liver	Liver
11	chr5:114962600-114968600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:114962600-114968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:114962600-114969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:114962600-114969600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:114962600-114969800	Weak transcription	HUVEC	blood vessel
16	chr5:114962600-114969800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:114962600-114970000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:114962800-114970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:114963000-114966200	Weak transcription	HepG2	liver
20	chr5:114963000-114969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:114963000-114969800	Weak transcription	NHDF-Ad	bronchial
22	chr5:114963000-114970000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:114963000-114970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:114963200-114969800	Weak transcription	Primary T cells from cord blood	blood
25	chr5:114963200-114970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:114963200-114970000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:114963400-114969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:114963400-114969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:114963400-114970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:114963400-114970000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:114963800-114964800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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