Variant report

Variant	rs17543358
Chromosome Location	chr5:17185157-17185158
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]
rs17543303	1.00[ASN][1000 genomes]
rs36125381	1.00[ASN][1000 genomes]
rs73052866	1.00[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:41 , 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	chr5:17179000-17189200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:17180600-17190200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:17180600-17191400	Enhancers	NHLF	lung
7	chr5:17181200-17187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:17181200-17189400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:17181400-17187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:17181400-17189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:17181400-17189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:17181400-17189800	Weak transcription	HSMMtube	muscle
13	chr5:17181600-17185600	Weak transcription	HSMM	muscle
14	chr5:17181600-17187800	Weak transcription	Hela-S3	cervix
15	chr5:17182000-17189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:17182200-17185400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:17182400-17185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:17182800-17185600	Weak transcription	NH-A	brain
19	chr5:17182800-17188000	Enhancers	Fetal Lung	lung
20	chr5:17182800-17189400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:17183000-17185600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:17183000-17186400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:17183200-17185600	Weak transcription	HMEC	breast
24	chr5:17183200-17185800	Weak transcription	NHEK	skin
25	chr5:17183200-17187400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:17183400-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:17183600-17185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:17184000-17186200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:17184000-17186600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:17184000-17188600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:17184400-17187600	Enhancers	Fetal Stomach	stomach
32	chr5:17184400-17188400	Enhancers	Osteobl	bone
33	chr5:17184400-17189400	Weak transcription	Placenta	Placenta
34	chr5:17184600-17185600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:17184600-17186400	Weak transcription	Lung	lung
36	chr5:17184600-17188600	Enhancers	NHDF-Ad	bronchial
37	chr5:17184800-17185200	Weak transcription	Psoas Muscle	Psoas
38	chr5:17184800-17185200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:17184800-17188000	Enhancers	Fetal Brain Male	brain
40	chr5:17184800-17188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:17184800-17188200	Enhancers	A549	lung

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