Variant report

Variant	rs10463826
Chromosome Location	chr5:126336669-126336670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126336213..126339480-chr5:126364864..126368183,4	K562	blood:
2	chr5:126112243..126113917-chr5:126335572..126338305,2	K562	blood:
3	chr5:126306231..126308106-chr5:126335783..126337788,2	K562	blood:
4	chr5:126335488..126338606-chr5:126364864..126367708,3	K562	blood:
5	chr5:126335673..126339523-chr5:126342443..126346025,3	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10053382	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10057084	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10060747	0.90[EUR][1000 genomes]
rs10065302	0.86[EUR][1000 genomes]
rs10067364	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10071669	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1013662	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1034844	0.84[EUR][1000 genomes]
rs10491284	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11949302	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11960799	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12515192	0.86[EUR][1000 genomes]
rs12655640	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12657369	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13154281	0.83[EUR][1000 genomes]
rs13189409	0.87[EUR][1000 genomes]
rs2108458	0.87[EUR][1000 genomes]
rs2108459	0.87[EUR][1000 genomes]
rs2240527	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2240528	0.85[EUR][1000 genomes]
rs4131248	0.81[AMR][1000 genomes]
rs4835921	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4835922	0.83[EUR][1000 genomes]
rs4836306	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4836307	0.85[EUR][1000 genomes]
rs6860726	0.81[EUR][1000 genomes]
rs6883871	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6891329	0.82[EUR][1000 genomes]
rs6891436	0.90[EUR][1000 genomes]
rs6899133	0.83[EUR][1000 genomes]
rs729607	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7706333	0.87[EUR][1000 genomes]
rs7721948	0.86[EUR][1000 genomes]
rs7733551	0.83[EUR][1000 genomes]
rs7736693	0.87[EUR][1000 genomes]
rs9327424	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9327425	0.86[EUR][1000 genomes]
rs9327426	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9327428	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10463826	MARCH3	cis	Muscle Skeletal	GTEx
rs10463826	C5orf63	cis	Nerve Tibial	GTEx
rs10463826	C5orf63	cis	Esophagus Muscularis	GTEx
rs10463826	C5orf63	cis	Artery Tibial	GTEx
rs10463826	C5orf63	cis	Artery Aorta	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:126334200-126337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:126334400-126337000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:126334400-126337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:126334400-126337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:126334400-126337200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:126334400-126337200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:126334400-126337200	Weak transcription	NH-A	brain
11	chr5:126334400-126337400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:126334400-126337400	Weak transcription	Small Intestine	intestine
13	chr5:126334400-126337800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:126334400-126338400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:126334400-126338600	Weak transcription	Lung	lung
16	chr5:126334400-126339800	Weak transcription	Spleen	Spleen
17	chr5:126334400-126345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:126334400-126363000	Weak transcription	Ovary	ovary
19	chr5:126334600-126337000	Weak transcription	HSMMtube	muscle
20	chr5:126334600-126337000	Weak transcription	HUVEC	blood vessel
21	chr5:126334600-126337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:126334600-126337400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:126334600-126337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:126334600-126337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:126334600-126338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:126334600-126339600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:126334600-126351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:126334800-126337000	Weak transcription	NHLF	lung
29	chr5:126334800-126337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:126334800-126337800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:126335000-126337000	Weak transcription	NHDF-Ad	bronchial
32	chr5:126335000-126337000	Weak transcription	Osteobl	bone
33	chr5:126335000-126338200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:126335200-126336800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:126335200-126337000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:126335200-126337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:126335200-126337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:126335200-126337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:126335200-126339400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:126335200-126339600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:126335200-126340400	Weak transcription	Brain Angular Gyrus	brain
42	chr5:126335400-126336800	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:126335400-126337000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:126335400-126337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:126335400-126337200	Weak transcription	Pancreas	Pancrea
46	chr5:126335400-126337200	Weak transcription	Right Atrium	heart
47	chr5:126335400-126337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:126335400-126337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:126335400-126337400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:126335400-126337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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