Variant report

Variant	rs62014488
Chromosome Location	chr15:30165049-30165050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30162335..30165638-chr15:30172933..30175702,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1085231	0.84[EUR][1000 genomes]
rs62014489	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62014490	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs711356	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs711357	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs785420	0.84[EUR][1000 genomes]
rs785422	0.86[EUR][1000 genomes]
rs785424	0.86[EUR][1000 genomes]
rs785429	0.84[EUR][1000 genomes]
rs785431	0.84[EUR][1000 genomes]
rs785432	0.82[EUR][1000 genomes]
rs785434	0.84[EUR][1000 genomes]
rs785435	0.84[EUR][1000 genomes]
rs785436	0.84[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30152600-30165600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:30156200-30165200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:30159400-30165800	Weak transcription	HSMMtube	muscle
4	chr15:30161200-30166800	Enhancers	Brain Angular Gyrus	brain
5	chr15:30162400-30166600	Enhancers	Fetal Heart	heart
6	chr15:30162400-30167400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr15:30162600-30165200	Enhancers	Right Ventricle	heart
8	chr15:30162600-30166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr15:30162800-30165200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:30162800-30165200	Enhancers	Left Ventricle	heart
11	chr15:30163200-30165200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:30163200-30167400	Enhancers	Brain Substantia Nigra	brain
13	chr15:30163200-30167600	Enhancers	Brain Anterior Caudate	brain
14	chr15:30163400-30165200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:30163400-30172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:30163600-30167800	Enhancers	Brain Hippocampus Middle	brain
17	chr15:30163800-30167200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:30163800-30167600	Enhancers	Brain Cingulate Gyrus	brain
19	chr15:30163800-30172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:30164000-30165600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:30164000-30165800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:30164000-30166200	Weak transcription	Ovary	ovary
23	chr15:30164200-30165400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:30164400-30166000	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:30164400-30166400	Weak transcription	Pancreas	Pancrea
26	chr15:30164400-30170400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:30164400-30174600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:30164600-30165200	Enhancers	Right Atrium	heart
29	chr15:30164600-30165600	Weak transcription	Fetal Kidney	kidney
30	chr15:30164800-30165400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:30165000-30165200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:30165000-30165200	Enhancers	NHLF	lung
33	chr15:30165000-30165400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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