Variant report

Variant	rs60525548
Chromosome Location	chr17:46230934-46230935
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	1.00[AMR][1000 genomes]
rs16952687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34768319	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	1.00[AMR][1000 genomes]
rs35177469	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35350665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35751035	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs57864674	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59727791	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377352	1.00[AMR][1000 genomes]
rs71377355	1.00[AMR][1000 genomes]
rs71377361	1.00[AMR][1000 genomes]
rs73985479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8075711	1.00[AMR][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:42 , 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	chr17:46230800-46231000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:46230800-46231000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:46230800-46231000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr17:46230800-46231200	Bivalent Enhancer	Fetal Kidney	kidney
30	chr17:46230800-46231400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr17:46230800-46231400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr17:46230800-46231600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:46230800-46231600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:46230800-46231600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr17:46230800-46231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:46230800-46231800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr17:46230800-46232000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr17:46230800-46232000	Enhancers	Pancreas	Pancrea
39	chr17:46230800-46232000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr17:46230800-46232400	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:46230800-46232600	Enhancers	Fetal Intestine Large	intestine
42	chr17:46230800-46234200	Strong transcription	Thymus	Thymus

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