Variant report

Variant	rs4365877
Chromosome Location	chr5:108524616-108524617
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	chr5:108524535..108526775-chr5:108529548..108531375,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10900654	0.84[EUR][1000 genomes]
rs11240993	0.84[EUR][1000 genomes]
rs11240994	0.84[EUR][1000 genomes]
rs11240995	0.84[EUR][1000 genomes]
rs12519222	0.82[EUR][1000 genomes]
rs12519256	0.82[EUR][1000 genomes]
rs12521907	0.82[EUR][1000 genomes]
rs13157564	0.82[EUR][1000 genomes]
rs13159083	0.84[EUR][1000 genomes]
rs13163803	0.84[EUR][1000 genomes]
rs13176379	0.84[EUR][1000 genomes]
rs13181049	0.82[EUR][1000 genomes]
rs4320311	0.84[EUR][1000 genomes]
rs4342372	0.83[EUR][1000 genomes]
rs4367335	0.84[EUR][1000 genomes]
rs4409140	0.84[EUR][1000 genomes]
rs4446517	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4463211	0.84[EUR][1000 genomes]
rs4501376	0.90[ASN][1000 genomes]
rs4645373	0.84[EUR][1000 genomes]
rs56318800	0.82[EUR][1000 genomes]
rs59383615	0.82[EUR][1000 genomes]
rs60461520	0.81[EUR][1000 genomes]
rs62376809	0.82[EUR][1000 genomes]
rs6594356	0.84[EUR][1000 genomes]
rs6594358	0.84[EUR][1000 genomes]
rs6863496	0.82[EUR][1000 genomes]
rs6877385	0.82[EUR][1000 genomes]
rs6882037	0.82[EUR][1000 genomes]
rs6888581	0.83[EUR][1000 genomes]
rs6889791	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6891602	0.84[EUR][1000 genomes]
rs6895606	0.83[EUR][1000 genomes]
rs6895876	0.84[EUR][1000 genomes]
rs7707660	0.92[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7719087	0.84[EUR][1000 genomes]
rs7719276	0.84[EUR][1000 genomes]
rs7719474	0.84[EUR][1000 genomes]
rs7719604	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1792067	chr5:108521224-108542526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4365877	GDAP1L1	trans	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
2	chr5:108496000-108532800	Weak transcription	Ovary	ovary
3	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
4	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
6	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
7	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
8	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
12	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:108518800-108526400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:108519200-108526200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:108519400-108525400	Weak transcription	Right Ventricle	heart
16	chr5:108520000-108526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:108520200-108527200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:108520400-108527000	Weak transcription	Small Intestine	intestine
19	chr5:108520600-108526400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:108520600-108526800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:108520600-108526800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:108520600-108530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:108520800-108527600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:108521200-108528400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:108521400-108524800	Strong transcription	Dnd41	blood
26	chr5:108521400-108525000	Strong transcription	Adipose Nuclei	Adipose
27	chr5:108521400-108525600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:108521400-108528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:108521600-108524800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr5:108521600-108525000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:108521600-108527000	Weak transcription	NH-A	brain
32	chr5:108521800-108525200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:108521800-108525200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:108521800-108526400	Weak transcription	HUVEC	blood vessel
35	chr5:108522200-108525600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:108522200-108527000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:108522200-108529400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:108522400-108525200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:108522400-108526400	Weak transcription	NHEK	skin
40	chr5:108522600-108525000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:108522600-108527000	Weak transcription	HMEC	breast
42	chr5:108522600-108538000	Weak transcription	Aorta	Aorta
43	chr5:108522800-108525000	Weak transcription	Primary B cells from cord blood	blood
44	chr5:108522800-108525600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:108522800-108527200	Weak transcription	Fetal Brain Female	brain
46	chr5:108523000-108525400	Weak transcription	Liver	Liver
47	chr5:108523000-108526800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:108523200-108524800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:108523200-108524800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:108523200-108524800	Weak transcription	Primary hematopoietic stem cells	blood

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