Variant report

Variant	rs73260580
Chromosome Location	chr5:114962817-114962818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:114962719-114962947	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114960865..114962954-chr5:115170753..115172835,2	MCF-7	breast:
2	chr5:114960793..114963745-chr5:114966203..114968929,3	MCF-7	breast:
3	chr5:114961758..114963636-chr5:115175834..115179975,3	K562	blood:
4	chr5:114630838..114633826-chr5:114960976..114962823,3	MCF-7	breast:
5	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
6	chr5:114878501..114880649-chr5:114962329..114964863,2	K562	blood:
7	chr5:114630095..114632050-chr5:114960167..114962829,2	MCF-7	breast:
8	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
9	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:
10	chr5:114961103..114964725-chr5:115175944..115179319,4	K562	blood:
11	chr5:114961228..114962989-chr5:115170828..115173503,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED7-TICAM2	TF binding region
TICAM2	TF binding region
TMED7	TF binding region
ENSG00000134970	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000271918	Chromatin interaction
ENSG00000177879	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]
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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114961400-114963000	Active TSS	Thymus	Thymus
2	chr5:114962200-114963000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:114962200-114963000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr5:114962400-114963000	Flanking Active TSS	Dnd41	blood
5	chr5:114962400-114965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:114962600-114963000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:114962600-114963000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:114962600-114963000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:114962600-114963000	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:114962600-114963000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:114962600-114963000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:114962600-114963000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:114962600-114963000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:114962600-114963000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:114962600-114963000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:114962600-114963000	Enhancers	Fetal Thymus	thymus
18	chr5:114962600-114963000	Enhancers	NHDF-Ad	bronchial
19	chr5:114962600-114963200	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:114962600-114963200	Enhancers	Primary T cells from cord blood	blood
21	chr5:114962600-114963200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:114962600-114963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:114962600-114963400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:114962600-114963400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:114962600-114963400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:114962600-114963400	Enhancers	Hela-S3	cervix
27	chr5:114962600-114963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:114962600-114965000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:114962600-114965400	Weak transcription	K562	blood
30	chr5:114962600-114967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:114962600-114967400	Weak transcription	Fetal Lung	lung
32	chr5:114962600-114967600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:114962600-114967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:114962600-114968400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:114962600-114968400	Weak transcription	Liver	Liver
36	chr5:114962600-114968600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:114962600-114968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:114962600-114969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:114962600-114969600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:114962600-114969800	Weak transcription	HUVEC	blood vessel
41	chr5:114962600-114969800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:114962600-114970000	Weak transcription	Fetal Intestine Small	intestine
43	chr5:114962800-114963000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:114962800-114963000	Enhancers	HepG2	liver
45	chr5:114962800-114963200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:114962800-114963200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:114962800-114970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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