Variant report

Variant	rs12653191
Chromosome Location	chr5:17182699-17182700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13162280	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2402350	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr5:17161200-17186400	Weak transcription	Fetal Brain Female	brain
2	chr5:17168000-17185600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:17168000-17186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:17173200-17184800	Weak transcription	Fetal Brain Male	brain
5	chr5:17177200-17183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:17178800-17183600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:17179000-17182800	Weak transcription	Fetal Lung	lung
8	chr5:17179000-17189200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:17179800-17183000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:17180400-17182800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:17180400-17183400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:17180600-17182800	Enhancers	NH-A	brain
13	chr5:17180600-17183000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:17180600-17183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:17180600-17183200	Enhancers	HMEC	breast
16	chr5:17180600-17183200	Enhancers	NHEK	skin
17	chr5:17180600-17183200	Enhancers	Osteobl	bone
18	chr5:17180600-17183600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:17180600-17190200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:17180600-17191400	Enhancers	NHLF	lung
21	chr5:17181000-17182800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:17181200-17187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:17181200-17189400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:17181400-17187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:17181400-17189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:17181400-17189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:17181400-17189800	Weak transcription	HSMMtube	muscle
28	chr5:17181600-17183000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:17181600-17185600	Weak transcription	HSMM	muscle
30	chr5:17181600-17187800	Weak transcription	Hela-S3	cervix
31	chr5:17181800-17183000	Enhancers	A549	lung
32	chr5:17181800-17184400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:17182000-17189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:17182200-17184000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:17182200-17184600	Weak transcription	NHDF-Ad	bronchial
36	chr5:17182200-17185400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:17182400-17185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:17182600-17183800	Enhancers	Fetal Stomach	stomach
39	chr5:17182600-17184600	Enhancers	Adipose Nuclei	Adipose

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