Variant report

Variant	rs573108523
Chromosome Location	chr15:30119327-30119328
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	chr15:30119266-30119373	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30113090..30115260-chr15:30117657..30120039,3	MCF-7	breast:

Variant related genes	Relation type
TJP1	TF binding region
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
12	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr15:30115400-30119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:30115400-30121000	Weak transcription	Lung	lung
3	chr15:30115600-30119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:30115600-30124400	Weak transcription	Spleen	Spleen
5	chr15:30115600-30127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:30115800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:30115800-30119600	Weak transcription	Adipose Nuclei	Adipose
10	chr15:30115800-30119800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:30116000-30121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:30116800-30119400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:30117800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:30118000-30119400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:30118000-30123800	Weak transcription	A549	lung
16	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr15:30118400-30119800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr15:30118400-30119800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr15:30118600-30119400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr15:30118600-30120000	Bivalent Enhancer	HepG2	liver
22	chr15:30118800-30119600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:30118800-30119800	Enhancers	Brain Cingulate Gyrus	brain
24	chr15:30118800-30119800	Enhancers	Placenta	Placenta
25	chr15:30118800-30120200	Enhancers	Brain Hippocampus Middle	brain
26	chr15:30118800-30120200	Enhancers	Brain Substantia Nigra	brain
27	chr15:30118800-30120400	Enhancers	Fetal Heart	heart
28	chr15:30119000-30119400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:30119000-30119600	Enhancers	NHLF	lung
30	chr15:30119000-30119800	Enhancers	Left Ventricle	heart
31	chr15:30119000-30119800	Enhancers	Right Atrium	heart
32	chr15:30119000-30120200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:30119000-30120200	Enhancers	Right Ventricle	heart
34	chr15:30119200-30119400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:30119200-30119600	Weak transcription	Brain Angular Gyrus	brain
36	chr15:30119200-30119600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr15:30119200-30119600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:30119200-30119800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr15:30119200-30120400	Enhancers	Brain Anterior Caudate	brain

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