Variant report

Variant	rs17145063
Chromosome Location	chr5:118611029-118611030
allele	C/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: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	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
2	chr5:118406002..118408491-chr5:118610029..118612989,2	MCF-7	breast:
3	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
4	chr5:118574634..118576211-chr5:118609734..118611582,2	MCF-7	breast:
5	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
6	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
7	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
8	chr5:118609964..118611606-chr5:118621803..118623586,2	MCF-7	breast:
9	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
10	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10035514	1.00[JPT][hapmap]
rs10519579	1.00[JPT][hapmap]
rs13153732	1.00[JPT][hapmap]
rs13167735	0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13172935	1.00[JPT][hapmap]
rs13187496	0.84[AFR][1000 genomes]
rs1504980	1.00[JPT][hapmap]
rs17145066	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145124	1.00[JPT][hapmap]
rs17145129	1.00[JPT][hapmap]
rs17145142	1.00[JPT][hapmap]
rs6878373	1.00[JPT][hapmap]
rs73247096	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73247101	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73248903	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709638	0.88[CHB][hapmap]
rs888771	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118611200	Weak transcription	Lung	lung
4	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
7	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
8	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
9	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
10	chr5:118606800-118611200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:118606800-118611400	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:118607000-118611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:118607000-118612400	Enhancers	Small Intestine	intestine
16	chr5:118607400-118612400	Enhancers	Placenta	Placenta
17	chr5:118608400-118611200	Enhancers	A549	lung
18	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:118608800-118611200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr5:118608800-118611200	Enhancers	Fetal Intestine Small	intestine
22	chr5:118608800-118612000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:118609000-118611200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:118609000-118611200	Enhancers	Esophagus	oesophagus
25	chr5:118609000-118611400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:118609000-118611400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:118609200-118611200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:118609200-118611400	Enhancers	Fetal Intestine Large	intestine
29	chr5:118609200-118612600	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:118609400-118611400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:118609400-118611400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:118609400-118611400	Flanking Active TSS	NHEK	skin
33	chr5:118609400-118615200	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:118609600-118611400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:118609600-118611600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:118609600-118611800	Enhancers	Adipose Nuclei	Adipose
37	chr5:118609600-118613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:118609600-118613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:118609800-118611200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:118609800-118611200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:118609800-118611200	Enhancers	NHDF-Ad	bronchial
42	chr5:118609800-118611400	Enhancers	NH-A	brain
43	chr5:118609800-118611400	Enhancers	Osteobl	bone
44	chr5:118609800-118611800	Enhancers	HUVEC	blood vessel
45	chr5:118609800-118612600	Genic enhancers	Fetal Thymus	thymus
46	chr5:118610000-118611200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
47	chr5:118610000-118611200	Enhancers	HSMM	muscle
48	chr5:118610000-118611400	Enhancers	NHLF	lung
49	chr5:118610400-118611200	Enhancers	Brain Hippocampus Middle	brain
50	chr5:118610400-118611400	Genic enhancers	Thymus	Thymus

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