Variant report

Variant	rs13162280
Chromosome Location	chr5:17178474-17178475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12653191	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2402350	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4288115	0.85[LWK][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17155200-17181200	Weak transcription	Hela-S3	cervix
2	chr5:17161200-17186400	Weak transcription	Fetal Brain Female	brain
3	chr5:17167800-17180600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:17168000-17185600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:17168000-17186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:17170200-17180600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:17171200-17181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:17171400-17180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:17173200-17184800	Weak transcription	Fetal Brain Male	brain
10	chr5:17175600-17178600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:17176800-17180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:17177200-17183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:17177400-17179200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:17177400-17179800	Weak transcription	Placenta	Placenta
15	chr5:17177600-17178800	Enhancers	NHLF	lung
16	chr5:17177600-17179000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:17177800-17179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:17177800-17179000	Enhancers	Adipose Nuclei	Adipose
19	chr5:17177800-17179000	Enhancers	Fetal Lung	lung
20	chr5:17178000-17179200	Enhancers	Osteobl	bone
21	chr5:17178000-17180800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:17178200-17178800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:17178200-17179000	Enhancers	Fetal Kidney	kidney
24	chr5:17178400-17178600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:17178400-17179000	Enhancers	HSMM	muscle
26	chr5:17178400-17179200	Enhancers	A549	lung
27	chr5:17178400-17180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:17178400-17182600	Weak transcription	Fetal Stomach	stomach

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