Variant report

Variant	rs72827869
Chromosome Location	chr17:46506699-46506700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46505363..46507156-chr17:46658355..46659859,2	K562	blood:

Variant related genes	Relation type
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10514944	0.82[AMR][1000 genomes]
rs1396869	0.88[ASN][1000 genomes]
rs16955960	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16956001	0.82[AMR][1000 genomes]
rs16956501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957085	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16957299	0.83[ASN][1000 genomes]
rs17621689	1.00[AFR][1000 genomes]
rs17623125	0.82[AMR][1000 genomes]
rs17623416	0.82[AMR][1000 genomes]
rs17623518	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17694670	1.00[AFR][1000 genomes]
rs17695179	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2175156	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2271264	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34463696	0.83[ASN][1000 genomes]
rs3809744	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55641965	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55751709	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55765969	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55912545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56093336	0.82[AMR][1000 genomes]
rs56103412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56151068	0.82[AMR][1000 genomes]
rs56311919	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56371910	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827806	0.90[AFR][1000 genomes]
rs72827810	1.00[AFR][1000 genomes]
rs72827825	0.82[AMR][1000 genomes]
rs72827848	0.82[AMR][1000 genomes]
rs72827851	0.82[AMR][1000 genomes]
rs72827873	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72827897	0.88[ASN][1000 genomes]
rs9899997	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9907565	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9913716	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46503200-46507000	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:46503800-46507600	Active TSS	Primary T cells fromperipheralblood	blood
3	chr17:46505000-46507200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr17:46505000-46507600	Active TSS	Thymus	Thymus
5	chr17:46505000-46508000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr17:46505400-46507000	Bivalent Enhancer	Fetal Lung	lung
7	chr17:46505400-46507600	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr17:46505400-46507800	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr17:46505600-46506800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr17:46505600-46506800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr17:46505600-46507400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr17:46505600-46508200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46505800-46507800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:46505800-46507800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr17:46506000-46507600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:46506000-46507800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:46506000-46510200	Weak transcription	K562	blood
18	chr17:46506200-46507000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr17:46506400-46506800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:46506400-46506800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr17:46506400-46507200	Active TSS	Colonic Mucosa	Colon
22	chr17:46506400-46507400	Bivalent/Poised TSS	Liver	Liver
23	chr17:46506400-46507800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr17:46506400-46508000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:46506400-46508000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr17:46506400-46508000	Flanking Active TSS	Fetal Thymus	thymus
27	chr17:46506600-46506800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:46506600-46506800	Bivalent/Poised TSS	Placenta	Placenta
29	chr17:46506600-46507000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:46506600-46507000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr17:46506600-46507000	Flanking Active TSS	GM12878-XiMat	blood
32	chr17:46506600-46507200	Active TSS	Rectal Smooth Muscle	rectum
33	chr17:46506600-46507600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:46506600-46507600	Bivalent/Poised TSS	Small Intestine	intestine
35	chr17:46506600-46507800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr17:46506600-46507800	Active TSS	Primary T cells from cord blood	blood
37	chr17:46506600-46507800	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr17:46506600-46507800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
39	chr17:46506600-46508000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:46506600-46508200	Enhancers	Gastric	stomach

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