Variant report

Variant	rs457897
Chromosome Location	chr5:14617857-14617858
allele	A/G
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	POLR2A	chr5:14617733-14617981	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14613981..14616531-chr5:14617641..14619876,2	K562	blood:

Variant related genes	Relation type
ENSG00000248791	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13172589	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13180883	1.00[ASW][hapmap]
rs149196	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149197	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs152717	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153819	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153823	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171652	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2455395	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs25952	1.00[ASW][hapmap]
rs25958	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs25959	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs25961	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs26179	0.96[EUR][1000 genomes]
rs27354	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs31971	0.98[EUR][1000 genomes]
rs31972	0.95[EUR][1000 genomes]
rs31973	0.88[EUR][1000 genomes]
rs31974	1.00[ASW][hapmap];0.85[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs31976	0.96[EUR][1000 genomes]
rs36103605	0.95[EUR][1000 genomes]
rs468184	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
2	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:14598200-14618200	Weak transcription	Thymus	Thymus
5	chr5:14598400-14619400	Weak transcription	Small Intestine	intestine
6	chr5:14598800-14618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:14600000-14618000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:14601200-14618200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:14602000-14621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:14604800-14618000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:14605400-14618000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:14605600-14620000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:14607600-14618200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:14607800-14618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:14608200-14618000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:14608800-14623000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:14609000-14619800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:14609200-14622800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:14610600-14621000	Weak transcription	Gastric	stomach
20	chr5:14610800-14620400	Weak transcription	Fetal Stomach	stomach
21	chr5:14610800-14624000	Weak transcription	Lung	lung
22	chr5:14611000-14618600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:14611600-14620400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:14612200-14623600	Weak transcription	Placenta	Placenta
25	chr5:14612600-14619200	Weak transcription	Pancreas	Pancrea
26	chr5:14613200-14621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:14613600-14618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:14615600-14619200	Weak transcription	Spleen	Spleen
29	chr5:14615600-14619400	Weak transcription	Colonic Mucosa	Colon
30	chr5:14615800-14618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:14616000-14621000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:14616600-14619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:14616800-14618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:14616800-14619000	Weak transcription	Fetal Brain Female	brain
35	chr5:14616800-14619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:14616800-14620400	Weak transcription	Fetal Intestine Large	intestine
37	chr5:14616800-14625400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:14617000-14621000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:14617200-14619400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:14617400-14618000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:14617400-14619400	Weak transcription	Primary T cells from cord blood	blood
42	chr5:14617400-14619600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:14617800-14619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:14617800-14620600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:14617800-14620600	Weak transcription	Fetal Intestine Small	intestine
46	chr5:14617800-14622200	Weak transcription	Rectal Mucosa Donor 29	rectum

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