Variant report

Variant	rs1719030
Chromosome Location	chr15:30130054-30130055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10162985	0.83[AFR][1000 genomes]
rs11631079	0.83[AFR][1000 genomes]
rs12595372	0.83[AFR][1000 genomes]
rs2127702	0.83[AFR][1000 genomes]
rs2337168	0.83[AFR][1000 genomes]
rs7183108	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	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
9	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
10	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
11	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:30120200-30132600	Weak transcription	Right Ventricle	heart
4	chr15:30121800-30132600	Weak transcription	Right Atrium	heart
5	chr15:30125200-30132600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:30125200-30135800	Weak transcription	Spleen	Spleen
7	chr15:30127400-30133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:30127800-30131600	Weak transcription	Liver	Liver
9	chr15:30127800-30132200	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:30127800-30132800	Weak transcription	Brain Anterior Caudate	brain
11	chr15:30127800-30136000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:30128000-30132000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:30128000-30133000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:30128000-30136000	Weak transcription	Lung	lung
15	chr15:30128200-30133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:30128200-30133000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:30128400-30130400	Weak transcription	NHEK	skin
18	chr15:30128400-30130600	Weak transcription	HMEC	breast
19	chr15:30128400-30132800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:30128400-30132800	Weak transcription	Brain Angular Gyrus	brain
21	chr15:30128400-30133000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:30128400-30136000	Weak transcription	Esophagus	oesophagus
23	chr15:30128600-30130600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:30129000-30132200	Weak transcription	Brain Substantia Nigra	brain
25	chr15:30129200-30132600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:30129800-30130600	Enhancers	Fetal Heart	heart
27	chr15:30129800-30132800	Weak transcription	Left Ventricle	heart
28	chr15:30130000-30130200	Enhancers	HSMM	muscle
29	chr15:30130000-30131000	Enhancers	HSMMtube	muscle
30	chr15:30130000-30131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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