Variant report

Variant	rs785424
Chromosome Location	chr15:30178544-30178545
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1085231	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461738	0.87[EUR][1000 genomes]
rs62014488	0.86[EUR][1000 genomes]
rs62014489	0.90[EUR][1000 genomes]
rs62014490	0.90[EUR][1000 genomes]
rs711356	0.88[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs711357	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs785420	0.97[EUR][1000 genomes]
rs785422	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs785429	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785431	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785432	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs785434	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs785435	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs785436	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30171000-30181000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:30172400-30178600	Enhancers	Brain Angular Gyrus	brain
3	chr15:30174600-30181000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:30174800-30178800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:30175600-30180600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:30175600-30180600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:30175600-30180600	Weak transcription	HSMMtube	muscle
8	chr15:30175600-30180800	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:30175600-30181000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr15:30175800-30179600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:30175800-30180400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:30175800-30180600	Weak transcription	Fetal Lung	lung
13	chr15:30175800-30180600	Weak transcription	NHLF	lung
14	chr15:30175800-30180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:30175800-30180800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:30175800-30182600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:30176000-30180800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:30176200-30180600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:30176400-30180400	Weak transcription	Fetal Kidney	kidney
20	chr15:30177400-30178600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:30177600-30180600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:30177600-30180800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:30177800-30179600	Weak transcription	Fetal Stomach	stomach
24	chr15:30177800-30180600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:30177800-30180800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:30177800-30180800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:30177800-30180800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:30177800-30180800	Weak transcription	Left Ventricle	heart
29	chr15:30177800-30181000	Weak transcription	Right Atrium	heart
30	chr15:30177800-30181000	Weak transcription	Right Ventricle	heart
31	chr15:30178000-30180000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:30178000-30180800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:30178000-30180800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:30178200-30180400	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:30178200-30180600	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:30178200-30180600	Weak transcription	Fetal Heart	heart
37	chr15:30178200-30180800	Weak transcription	Brain Anterior Caudate	brain
38	chr15:30178200-30181000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:30178200-30181200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:30178400-30180600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:30178400-30180600	Weak transcription	Brain Substantia Nigra	brain
42	chr15:30178400-30180800	Weak transcription	Brain Cingulate Gyrus	brain

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