Variant report

Variant	rs785420
Chromosome Location	chr15:30196116-30196117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1085231	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2461738	0.90[EUR][1000 genomes]
rs57805155	0.83[AFR][1000 genomes]
rs62014488	0.84[EUR][1000 genomes]
rs62014489	0.88[EUR][1000 genomes]
rs62014490	0.88[EUR][1000 genomes]
rs711356	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs711357	0.97[EUR][1000 genomes]
rs785422	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs785424	0.97[EUR][1000 genomes]
rs785429	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs785431	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs785432	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785434	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785435	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785436	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	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
10	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
11	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
12	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30187000-30196400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:30188400-30196200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:30190000-30206600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:30192800-30197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:30193400-30196200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:30193400-30209800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:30195200-30196400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:30195800-30196600	Enhancers	Left Ventricle	heart
9	chr15:30196000-30196200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr15:30196000-30196200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:30196000-30197000	Enhancers	Fetal Heart	heart
12	chr15:30196000-30197400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:30196000-30197400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr15:30196000-30197400	Enhancers	Brain Cingulate Gyrus	brain
15	chr15:30196000-30197400	Enhancers	Brain Substantia Nigra	brain
16	chr15:30196000-30197600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:30196000-30197800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:30196000-30198000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr15:30196000-30198200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:30196000-30198200	Enhancers	Brain Hippocampus Middle	brain
21	chr15:30196000-30201600	Weak transcription	Right Atrium	heart

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