Variant report

Variant	rs543328167
Chromosome Location	chr5:59492664-59492665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv598261	chr5:59486768-59493762	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv598262	chr5:59486768-59496175	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv15503	chr5:59489615-59496332	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv32579	chr5:59489668-59496177	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv598263	chr5:59490107-59493402	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv598264	chr5:59490107-59493762	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv598265	chr5:59490107-59494666	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv598266	chr5:59490107-59495060	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv598267	chr5:59490107-59495388	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv598268	chr5:59490107-59495804	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv598269	chr5:59490107-59496175	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv598270	chr5:59490107-59500391	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv598272	chr5:59490242-59493762	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv598273	chr5:59490242-59495388	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv598274	chr5:59490242-59495804	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
20	nsv598275	chr5:59490242-59496175	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
21	nsv598276	chr5:59490615-59493762	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
22	nsv598277	chr5:59490615-59495388	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv598278	chr5:59490615-59496175	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv598279	chr5:59490961-59493762	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv598280	chr5:59490961-59495388	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
26	nsv598281	chr5:59490961-59496175	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
27	nsv598282	chr5:59490965-59493762	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
28	nsv598283	chr5:59491390-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
29	nsv598284	chr5:59491734-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
30	nsv598285	chr5:59492111-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
31	nsv598286	chr5:59492454-59496175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv598287	chr5:59492454-59500391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59471600-59500800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59491400-59493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59491600-59494000	Enhancers	Hela-S3	cervix
4	chr5:59491800-59492800	Enhancers	HMEC	breast
5	chr5:59491800-59493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:59491800-59493200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:59492000-59492800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:59492000-59492800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:59492000-59492800	Flanking Active TSS	A549	lung
10	chr5:59492000-59492800	Enhancers	HSMMtube	muscle
11	chr5:59492000-59492800	Enhancers	HUVEC	blood vessel
12	chr5:59492000-59492800	Enhancers	NH-A	brain
13	chr5:59492000-59492800	Enhancers	NHEK	skin
14	chr5:59492000-59493000	Enhancers	HSMM	muscle
15	chr5:59492200-59492800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:59492200-59493200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:59492400-59492800	Enhancers	Brain Hippocampus Middle	brain
18	chr5:59492400-59492800	Enhancers	Osteobl	bone
19	chr5:59492600-59493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:59492600-59493000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:59492600-59493000	Enhancers	NHDF-Ad	bronchial
22	chr5:59492600-59494600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:59492600-59494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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