Variant report

Variant	rs17104293
Chromosome Location	chr5:145565057-145565058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:145564834-145565101	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:145564742-145565108	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145562850..145566563-chr5:145571128..145574037,3	MCF-7	breast:
2	chr5:145564650..145566770-chr5:145588134..145589874,2	K562	blood:
3	chr5:145564948..145567866-chr5:145592052..145594140,2	K562	blood:
4	chr5:145563092..145566274-chr5:145579879..145584548,5	MCF-7	breast:
5	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

No data

Variant related genes	Relation type
LARS	TF binding region
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10515568	0.90[EUR][1000 genomes]
rs11540216	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11952903	0.90[EUR][1000 genomes]
rs11959720	0.90[EUR][1000 genomes]
rs17104247	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104250	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104260	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104264	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104266	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104268	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104276	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104318	0.93[EUR][1000 genomes]
rs17104321	0.93[EUR][1000 genomes]
rs17104322	0.93[EUR][1000 genomes]
rs17104324	0.93[EUR][1000 genomes]
rs17104331	0.93[EUR][1000 genomes]
rs17104347	0.90[EUR][1000 genomes]
rs17104362	0.90[EUR][1000 genomes]
rs17104371	0.90[EUR][1000 genomes]
rs17104395	0.86[EUR][1000 genomes]
rs2163754	0.93[EUR][1000 genomes]
rs2895652	0.93[EUR][1000 genomes]
rs4631229	0.90[EUR][1000 genomes]
rs56864252	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57466173	0.90[EUR][1000 genomes]
rs57722184	0.97[EUR][1000 genomes]
rs58569901	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58922378	0.90[EUR][1000 genomes]
rs60892265	0.91[EUR][1000 genomes]
rs61455974	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66507348	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66891285	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67350755	0.86[EUR][1000 genomes]
rs67721586	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67859456	0.93[EUR][1000 genomes]
rs67897591	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68040240	0.88[EUR][1000 genomes]
rs6870249	0.90[EUR][1000 genomes]
rs6871866	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6882243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72806113	0.90[EUR][1000 genomes]
rs72806116	0.90[EUR][1000 genomes]
rs72806136	0.90[EUR][1000 genomes]
rs72806144	0.90[EUR][1000 genomes]
rs72806155	0.90[EUR][1000 genomes]
rs72806173	0.88[EUR][1000 genomes]
rs72806176	0.86[EUR][1000 genomes]
rs72820451	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72820464	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72822208	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72822249	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72822252	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72822263	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72822274	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72822293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72822296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72824110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72824123	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72824124	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73315720	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73317887	0.97[EUR][1000 genomes]
rs73317890	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145562800-145569800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:145563000-145568000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:145563000-145568800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:145563000-145582200	Weak transcription	Right Atrium	heart
5	chr5:145563400-145566800	Weak transcription	Placenta	Placenta
6	chr5:145563400-145570600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:145564600-145565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:145564600-145565200	Enhancers	HMEC	breast
9	chr5:145564600-145565200	Enhancers	HUVEC	blood vessel
10	chr5:145564600-145565200	Enhancers	Osteobl	bone
11	chr5:145564600-145565400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:145564600-145565400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:145564600-145565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:145564600-145565400	Enhancers	NHEK	skin
15	chr5:145564800-145565200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:145564800-145565200	Enhancers	NH-A	brain
17	chr5:145565000-145565400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:145565000-145567200	Weak transcription	A549	lung
19	chr5:145565000-145567800	Weak transcription	NHDF-Ad	bronchial

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