Variant report

Variant	rs72825548
Chromosome Location	chr17:46231108-46231109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46230676..46231645-chr17:46412984..46413541,3	K562	blood:
2	chr17:46230814..46231633-chr7:140025800..140026385,2	MCF-7	breast:
3	chr17:46230746..46231690-chr17:46534208..46535239,3	MCF-7	breast:
4	chr17:46224844..46227376-chr17:46230087..46232594,2	MCF-7	breast:
5	chr17:46224894..46227721-chr17:46229708..46233601,3	MCF-7	breast:
6	chr17:46230636..46231674-chr17:46336798..46337466,4	MCF-7	breast:
7	chr17:46228424..46231223-chr17:46706506..46708243,2	K562	blood:
8	chr17:46230594..46231331-chr17:46670981..46671494,2	MCF-7	breast:
9	chr17:46228679..46233044-chr17:46249536..46252436,3	K562	blood:
10	chr17:46230719..46231729-chr17:46413050..46413828,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120075	Chromatin interaction
ENSG00000242207	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514938	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11650615	1.00[ASN][1000 genomes]
rs16952265	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953235	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953382	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953461	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953925	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954078	1.00[ASN][1000 genomes]
rs16954204	1.00[ASN][1000 genomes]
rs41280120	1.00[ASN][1000 genomes]
rs41336845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216504	1.00[ASN][1000 genomes]
rs72823527	1.00[ASN][1000 genomes]
rs72823530	1.00[ASN][1000 genomes]
rs72823534	1.00[ASN][1000 genomes]
rs72823591	1.00[ASN][1000 genomes]
rs72823594	0.83[AFR][1000 genomes]
rs72823599	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72823601	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72825504	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72825512	1.00[ASN][1000 genomes]
rs72825517	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825584	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8067005	1.00[ASN][1000 genomes]
rs8073371	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
8	chr17:46222800-46234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:46225400-46231600	Weak transcription	GM12878-XiMat	blood
10	chr17:46226200-46231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:46226400-46234600	Strong transcription	Primary T cells from cord blood	blood
12	chr17:46226600-46231800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:46227000-46233600	Weak transcription	Spleen	Spleen
14	chr17:46228000-46233200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:46228200-46232200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr17:46229200-46231400	Weak transcription	K562	blood
18	chr17:46230200-46232200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells	blood
21	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:46230600-46232200	Enhancers	Fetal Intestine Small	intestine
24	chr17:46230600-46232800	Enhancers	Liver	Liver
25	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:46230800-46231200	Bivalent Enhancer	Fetal Kidney	kidney
27	chr17:46230800-46231400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:46230800-46231400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr17:46230800-46231600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:46230800-46231600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:46230800-46231600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:46230800-46231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr17:46230800-46231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr17:46230800-46232000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr17:46230800-46232000	Enhancers	Pancreas	Pancrea
36	chr17:46230800-46232000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr17:46230800-46232400	Enhancers	Duodenum Mucosa	Duodenum
38	chr17:46230800-46232600	Enhancers	Fetal Intestine Large	intestine
39	chr17:46230800-46234200	Strong transcription	Thymus	Thymus
40	chr17:46231000-46231200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:46231000-46231600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:46231000-46231600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr17:46231000-46231800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr17:46231000-46232000	Enhancers	Stomach Mucosa	stomach
45	chr17:46231000-46232000	Enhancers	A549	lung
46	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood

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