Variant report

Variant	rs1718993
Chromosome Location	chr15:30219500-30219501
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30111488..30116062-chr15:30215235..30221223,14	MCF-7	breast:
2	chr15:30111263..30115362-chr15:30215775..30219820,11	MCF-7	breast:
3	chr15:30217904..30219562-chr15:30220854..30222686,2	MCF-7	breast:
4	chr15:30213720..30216052-chr15:30218061..30219609,2	K562	blood:
5	chr15:30218390..30221170-chr15:30223079..30226019,2	MCF-7	breast:
6	chr15:30213326..30217434-chr15:30217608..30221086,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1001877	0.95[ASN][1000 genomes]
rs12592270	0.95[ASN][1000 genomes]
rs12594438	0.96[ASN][1000 genomes]
rs12594461	0.96[ASN][1000 genomes]
rs1357386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1357387	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1357388	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1357389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1403354	0.80[AFR][1000 genomes]
rs1403355	0.83[ASN][1000 genomes]
rs1464564	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1464565	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1522640	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1522643	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522790	0.80[AFR][1000 genomes]
rs1522791	0.85[ASN][1000 genomes]
rs1522792	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522794	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533860	0.85[ASN][1000 genomes]
rs1631472	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632356	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718974	0.80[AFR][1000 genomes]
rs1718977	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718985	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1718986	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718987	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718988	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718989	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718990	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718991	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718997	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1718998	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1718999	0.99[ASN][1000 genomes]
rs1719001	0.83[ASN][1000 genomes]
rs1719032	0.80[AFR][1000 genomes]
rs1719033	0.80[AFR][1000 genomes]
rs1719036	0.80[AFR][1000 genomes]
rs1719040	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719041	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719332	0.81[AFR][1000 genomes]
rs1719337	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1719338	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1719341	0.98[ASN][1000 genomes]
rs1719343	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719345	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719348	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719349	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719350	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719352	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719353	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719358	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719359	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719360	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719361	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1719363	0.81[ASN][1000 genomes]
rs2103056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253906	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461657	0.99[ASN][1000 genomes]
rs2948554	0.80[AFR][1000 genomes]
rs2948555	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34866689	0.98[ASN][1000 genomes]
rs4503741	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4779461	0.85[ASN][1000 genomes]
rs4779672	0.85[ASN][1000 genomes]
rs4779673	0.85[ASN][1000 genomes]
rs4779674	0.85[ASN][1000 genomes]
rs4779675	0.96[ASN][1000 genomes]
rs4779676	0.95[ASN][1000 genomes]
rs4779677	0.96[ASN][1000 genomes]
rs4779681	0.83[ASN][1000 genomes]
rs72625154	0.83[ASN][1000 genomes]
rs867024	0.80[AFR][1000 genomes]
rs867025	0.80[AFR][1000 genomes]
rs939976	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939977	0.98[ASN][1000 genomes]
rs939978	0.98[ASN][1000 genomes]
rs939979	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30217400-30229200	Weak transcription	Gastric	stomach
2	chr15:30218200-30220000	Weak transcription	Lung	lung
3	chr15:30218200-30226200	Weak transcription	Brain Substantia Nigra	brain
4	chr15:30218200-30227600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:30218200-30236200	Weak transcription	Aorta	Aorta
6	chr15:30218400-30226600	Weak transcription	Brain Anterior Caudate	brain
7	chr15:30218600-30220000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:30218600-30225400	Weak transcription	Brain Angular Gyrus	brain
9	chr15:30218600-30225600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:30218600-30227200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:30218800-30222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:30218800-30222800	Weak transcription	NHEK	skin
13	chr15:30218800-30225400	Weak transcription	HMEC	breast
14	chr15:30219200-30225200	Weak transcription	A549	lung

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