Variant report

Variant	rs540526956
Chromosome Location	chr17:46616992-46616993
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
3	POLR2A	chr17:46616350-46617179	U87	brain:	n/a	n/a
4	RCOR1	chr17:46616288-46617988	IMR90	lung:	n/a	n/a
5	POLR2A	chr17:46616344-46617223	U87	brain:	n/a	n/a

Variant related genes	Relation type
HOXB-AS1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	esv3316046	chr17:46615666-46617331	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	esv3373981	chr17:46615667-46617320	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv3316047	chr17:46615691-46617332	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	esv6593	chr17:46615724-46617444	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv3361796	chr17:46615764-46617242	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	esv3316045	chr17:46615786-46617226	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	esv3509838	chr17:46615797-46617226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	esv3316048	chr17:46615801-46617224	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	esv3509839	chr17:46615801-46617224	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46610200-46618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:46614800-46618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:46615200-46618400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:46615400-46619600	Weak transcription	A549	lung
5	chr17:46615800-46618000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:46616000-46618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:46616000-46618400	Enhancers	NHDF-Ad	bronchial
8	chr17:46616200-46617000	Enhancers	NH-A	brain
9	chr17:46616200-46617200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:46616200-46617200	Enhancers	HSMM	muscle
11	chr17:46616200-46617400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:46616200-46617400	Enhancers	NHLF	lung
13	chr17:46616200-46617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46616200-46618000	Enhancers	HSMMtube	muscle
15	chr17:46616200-46618200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:46616200-46618400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:46616400-46617000	Bivalent Enhancer	Osteobl	bone
18	chr17:46616400-46617200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:46616400-46617200	Enhancers	Fetal Kidney	kidney
20	chr17:46616600-46617000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:46616600-46618000	Enhancers	K562	blood
22	chr17:46616600-46618400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:46616600-46618400	Enhancers	NHEK	skin
24	chr17:46616800-46617000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:46616800-46617000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:46616800-46617000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:46616800-46617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr17:46616800-46617400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:46616800-46617600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:46616800-46617800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:46616800-46618200	Bivalent Enhancer	Fetal Lung	lung
32	chr17:46616800-46618400	Genic enhancers	Fetal Stomach	stomach
33	chr17:46616800-46618400	Enhancers	HMEC	breast

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