Variant report

Variant	rs74064781
Chromosome Location	chr14:81444840-81444841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:81444645-81444986	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr14:81444555-81445205	SH-SY5Y	brain:	n/a	n/a
3	TBP	chr14:81444811-81445011	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81443218..81445707-chr14:81448649..81450326,2	K562	blood:
2	chr14:81442891..81446024-chr14:81447547..81451295,3	K562	blood:

Variant related genes	Relation type
ENSG00000258915	TF binding region
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10133525	0.85[AFR][1000 genomes]
rs10136949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138961	0.90[AMR][1000 genomes]
rs10139168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141257	0.90[AMR][1000 genomes]
rs10149425	1.00[AMR][1000 genomes]
rs10152059	0.90[AMR][1000 genomes]
rs11844944	0.90[AMR][1000 genomes]
rs11845184	0.90[AMR][1000 genomes]
rs11847561	0.90[AMR][1000 genomes]
rs11847808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850795	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2371465	0.82[EUR][1000 genomes]
rs28376437	1.00[AMR][1000 genomes]
rs28504619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533809	0.90[AMR][1000 genomes]
rs28534062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701160	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617779	0.82[EUR][1000 genomes]
rs59265535	0.81[AMR][1000 genomes]
rs60983251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7144235	0.90[AMR][1000 genomes]
rs7144496	1.00[AMR][1000 genomes]
rs7147361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160338	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064761	1.00[AMR][1000 genomes]
rs74064762	1.00[AMR][1000 genomes]
rs74064776	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010771	1.00[AMR][1000 genomes]
rs9323696	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81442000-81446000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:81442200-81446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:81442200-81447600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:81443800-81445000	Flanking Active TSS	Thymus	Thymus
5	chr14:81443800-81445600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr14:81444000-81445000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:81444000-81445800	Flanking Active TSS	Dnd41	blood
8	chr14:81444000-81447800	Weak transcription	Aorta	Aorta
9	chr14:81444000-81447800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:81444400-81445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:81444400-81445000	Flanking Active TSS	Fetal Thymus	thymus
12	chr14:81444400-81445400	Enhancers	Brain Germinal Matrix	brain
13	chr14:81444600-81445400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:81444600-81445600	Enhancers	Primary T cells from cord blood	blood
15	chr14:81444800-81445200	Enhancers	Brain Anterior Caudate	brain
16	chr14:81444800-81447800	Weak transcription	Placenta	Placenta
17	chr14:81444800-81447800	Weak transcription	Psoas Muscle	Psoas

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