Variant report

Variant	rs16953055
Chromosome Location	chr17:46230771-46230772
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000242207	Chromatin interaction
ENSG00000120075	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16953361	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16953800	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953909	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953910	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16954469	0.89[YRI][hapmap]
rs16955049	0.89[YRI][hapmap]
rs16955553	0.89[YRI][hapmap]
rs16955819	0.89[YRI][hapmap]
rs17620866	1.00[YRI][hapmap]
rs17694404	1.00[YRI][hapmap]
rs2875747	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4793760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4794402	1.00[YRI][hapmap]
rs7208490	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7223389	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8076309	0.87[YRI][hapmap]
rs8077950	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747665	1.00[YRI][hapmap];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:34 , 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	chr17:46221400-46230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
9	chr17:46222800-46234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:46225400-46231600	Weak transcription	GM12878-XiMat	blood
11	chr17:46226000-46230800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:46226000-46230800	Weak transcription	Thymus	Thymus
13	chr17:46226200-46231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:46226400-46234600	Strong transcription	Primary T cells from cord blood	blood
15	chr17:46226600-46231800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:46227000-46233600	Weak transcription	Spleen	Spleen
17	chr17:46227200-46230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46228000-46233200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:46228200-46230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:46228200-46232200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:46228400-46230800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:46228600-46230800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:46229200-46230800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:46229200-46231400	Weak transcription	K562	blood
26	chr17:46230200-46230800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr17:46230200-46232200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells	blood
30	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:46230600-46232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:46230600-46232200	Enhancers	Fetal Intestine Small	intestine
33	chr17:46230600-46232800	Enhancers	Liver	Liver
34	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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