Variant report

Variant	rs62019282
Chromosome Location	chr15:42789766-42789767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
2	chr15:42781216..42785097-chr15:42786050..42789793,8	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction
ENSG00000092531	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10454692	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1048571	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11070375	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11630625	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11630681	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11633112	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11635041	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11635076	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11635889	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11636209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12439377	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12440506	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17709596	0.85[EUR][1000 genomes]
rs17709867	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17766258	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767264	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17767270	0.81[EUR][1000 genomes]
rs2595938	0.81[EUR][1000 genomes]
rs41315252	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56069741	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56172155	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019285	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019287	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019294	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019312	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019315	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019320	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019322	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62022315	0.81[EUR][1000 genomes]
rs62022316	0.85[EUR][1000 genomes]
rs62022318	0.86[EUR][1000 genomes]
rs7182376	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72711767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8039240	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042618	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62019282	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42787600-42790000	Active TSS	GM12878-XiMat	blood
2	chr15:42788400-42790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:42788400-42790200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42788400-42790200	Weak transcription	Gastric	stomach
5	chr15:42788400-42808000	Weak transcription	Esophagus	oesophagus
6	chr15:42788600-42790000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:42788600-42790000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:42788600-42790200	Weak transcription	Left Ventricle	heart
9	chr15:42788600-42790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:42788600-42790800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:42788600-42791000	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:42788600-42791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:42788600-42792400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr15:42788600-42798400	Weak transcription	Ovary	ovary
15	chr15:42788600-42805600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:42788600-42806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:42788600-42807200	Weak transcription	Fetal Kidney	kidney
18	chr15:42788800-42789800	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:42788800-42789800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:42788800-42790000	Weak transcription	Psoas Muscle	Psoas
21	chr15:42788800-42790000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:42788800-42790200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:42788800-42790200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:42788800-42790200	Weak transcription	Lung	lung
25	chr15:42788800-42790200	Weak transcription	Pancreas	Pancrea
26	chr15:42788800-42790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:42788800-42790600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:42788800-42790600	Weak transcription	HMEC	breast
29	chr15:42788800-42790800	Weak transcription	NHDF-Ad	bronchial
30	chr15:42788800-42791400	Weak transcription	NH-A	brain
31	chr15:42788800-42792000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:42788800-42792200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:42788800-42792200	Weak transcription	Right Atrium	heart
34	chr15:42788800-42792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:42788800-42793000	Weak transcription	Brain Substantia Nigra	brain
36	chr15:42788800-42793600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:42788800-42797000	Weak transcription	HSMMtube	muscle
38	chr15:42788800-42800400	Weak transcription	Fetal Lung	lung
39	chr15:42788800-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:42788800-42805400	Weak transcription	Brain Germinal Matrix	brain
41	chr15:42789000-42789800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr15:42789000-42789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:42789000-42790000	Weak transcription	Fetal Thymus	thymus
44	chr15:42789000-42790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:42789000-42790200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:42789000-42790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:42789000-42790200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:42789000-42790200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:42789000-42790200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:42789000-42790200	Weak transcription	Fetal Stomach	stomach

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