Variant report

Variant	rs34894549
Chromosome Location	chr17:37913201-37913202
allele	G/T
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	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37909648..37914905-chr17:37919305..37927863,11	MCF-7	breast:
3	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
4	chr17:37789315..37792571-chr17:37910228..37913282,4	K562	blood:
5	chr17:37912341..37914558-chr17:37917986..37920892,4	K562	blood:
6	chr17:37912031..37913626-chr17:37916861..37918993,2	MCF-7	breast:
7	chr17:37912122..37914127-chr17:37914525..37916336,2	K562	blood:
8	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:
9	chr17:37790735..37794088-chr17:37909085..37913282,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131748	Chromatin interaction
ENSG00000264198	Chromatin interaction
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12937003	0.82[ASW][hapmap]
rs12943460	0.97[AFR][1000 genomes]
rs12945567	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12952222	1.00[AMR][1000 genomes]
rs34145888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34406947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34715089	1.00[AMR][1000 genomes]
rs34869948	1.00[AMR][1000 genomes]
rs34872040	1.00[AMR][1000 genomes]
rs35226954	1.00[AMR][1000 genomes]
rs35708591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35802901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35932672	1.00[AMR][1000 genomes]
rs4252630	1.00[ASW][hapmap]
rs5644	1.00[AMR][1000 genomes]
rs57074971	1.00[AMR][1000 genomes]
rs58627150	1.00[AMR][1000 genomes]
rs59016861	1.00[AMR][1000 genomes]
rs59294054	1.00[AMR][1000 genomes]
rs66639406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66788250	1.00[AMR][1000 genomes]
rs67599922	1.00[AMR][1000 genomes]
rs67919571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294102	1.00[AMR][1000 genomes]
rs73302113	1.00[AMR][1000 genomes]
rs73302117	1.00[AMR][1000 genomes]
rs73308310	1.00[AMR][1000 genomes]
rs73308323	1.00[AMR][1000 genomes]
rs73308329	1.00[AMR][1000 genomes]
rs73308333	1.00[AMR][1000 genomes]
rs8066399	0.82[ASW][hapmap]
rs9941391	0.82[ASW][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap]

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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37911200-37914000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr17:37911200-37914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr17:37911200-37914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:37911200-37915000	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:37911400-37913800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:37911600-37915200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr17:37911600-37915800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:37911800-37913600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:37911800-37913600	Weak transcription	HSMM	muscle
10	chr17:37911800-37915400	Enhancers	Duodenum Mucosa	Duodenum
11	chr17:37911800-37918600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr17:37912000-37914400	Enhancers	Spleen	Spleen
13	chr17:37912000-37916600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:37912000-37930400	Weak transcription	Esophagus	oesophagus
15	chr17:37912200-37914400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:37912200-37915600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:37912200-37916400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:37912400-37913600	Enhancers	Fetal Thymus	thymus
19	chr17:37912400-37914600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:37912400-37915800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr17:37912400-37916400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr17:37912400-37917400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:37912600-37915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:37912600-37915800	Enhancers	Dnd41	blood
25	chr17:37912800-37915000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:37912800-37915200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr17:37912800-37915400	Enhancers	Primary T cells from cord blood	blood
28	chr17:37912800-37916000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:37912800-37916000	Enhancers	Thymus	Thymus
30	chr17:37912800-37917000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:37912800-37927400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:37913000-37914200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:37913000-37915400	Enhancers	Primary B cells from peripheral blood	blood
34	chr17:37913000-37915400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr17:37913200-37913400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr17:37913200-37914000	Enhancers	GM12878-XiMat	blood
37	chr17:37913200-37915000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr17:37913200-37915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:37913200-37916600	Enhancers	Primary B cells from cord blood	blood

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