Variant report

Variant	rs4836306
Chromosome Location	chr5:126307077-126307078
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126305965..126309284-chr5:126320390..126324364,3	K562	blood:
2	chr5:126301356..126304361-chr5:126305442..126307816,3	K562	blood:
3	chr5:126306231..126308106-chr5:126335783..126337788,2	K562	blood:
4	chr5:126295165..126298889-chr5:126304910..126308773,5	K562	blood:
5	chr5:126303677..126307322-chr5:126308047..126312316,4	K562	blood:
6	chr5:126181496..126183544-chr5:126306554..126308992,2	K562	blood:
7	chr5:126305854..126307496-chr5:126407702..126409493,2	K562	blood:
8	chr5:126305254..126310520-chr5:126310606..126314158,9	K562	blood:
9	chr5:126305854..126308836-chr5:126407702..126410135,3	K562	blood:
10	chr5:126305965..126308847-chr5:126322511..126324364,2	K562	blood:
11	chr5:126294787..126301080-chr5:126303359..126308773,11	K562	blood:
12	chr5:126299976..126302446-chr5:126306128..126309371,3	MCF-7	breast:
13	chr5:126305751..126315472-chr5:126364085..126368843,14	K562	blood:
14	chr5:126302242..126304361-chr5:126305442..126307816,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10053382	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10057084	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10060747	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10065302	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10067364	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10071669	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1013662	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1034844	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10463826	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10491284	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10900789	0.86[EUR][1000 genomes]
rs11241912	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11949302	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11956061	0.84[EUR][1000 genomes]
rs11960799	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12515192	0.85[EUR][1000 genomes]
rs12655640	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12657369	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154281	0.83[EUR][1000 genomes]
rs13189409	0.86[EUR][1000 genomes]
rs2108458	0.86[EUR][1000 genomes]
rs2108459	0.86[EUR][1000 genomes]
rs2240527	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2240528	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4131248	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4380710	0.86[EUR][1000 genomes]
rs4835921	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835922	0.83[EUR][1000 genomes]
rs4836307	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6860726	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6883871	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6891329	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6891436	0.89[EUR][1000 genomes]
rs6899133	0.82[EUR][1000 genomes]
rs729607	0.89[EUR][1000 genomes]
rs7706333	0.86[EUR][1000 genomes]
rs7716410	0.80[EUR][1000 genomes]
rs7721948	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7731664	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7733551	0.92[EUR][1000 genomes]
rs7736693	0.86[EUR][1000 genomes]
rs9327424	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327425	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9327426	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327428	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[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
rs4836306	C5orf63	cis	Esophagus Muscularis	GTEx
rs4836306	MARCH3	cis	Muscle Skeletal	GTEx
rs4836306	C5orf63	cis	Nerve Tibial	GTEx
rs4836306	C5orf63	cis	Artery Aorta	GTEx
rs4836306	C5orf63	cis	Artery Tibial	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126297800-126307400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:126299800-126312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:126300400-126308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:126301000-126307400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:126301000-126308800	Weak transcription	Small Intestine	intestine
6	chr5:126301200-126308200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:126301600-126308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:126302000-126312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:126304400-126308000	Enhancers	Primary B cells from cord blood	blood
10	chr5:126304400-126310600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:126304600-126307800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:126305000-126309400	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:126305200-126307400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:126305200-126307400	Enhancers	Left Ventricle	heart
15	chr5:126305200-126308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:126305200-126308600	Enhancers	Right Ventricle	heart
17	chr5:126305200-126309000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:126305400-126307400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:126305400-126309200	Enhancers	HUVEC	blood vessel
20	chr5:126305600-126307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:126305600-126308000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:126305600-126308000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:126305600-126308400	Enhancers	Osteobl	bone
24	chr5:126305800-126307400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:126305800-126307400	Enhancers	Fetal Muscle Leg	muscle
26	chr5:126305800-126308800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:126306000-126307400	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:126306000-126308000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:126306000-126308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:126306000-126308200	Weak transcription	Fetal Thymus	thymus
31	chr5:126306000-126308400	Enhancers	HSMMtube	muscle
32	chr5:126306000-126308600	Enhancers	Adipose Nuclei	Adipose
33	chr5:126306000-126309000	Enhancers	HSMM	muscle
34	chr5:126306200-126308200	Enhancers	NHDF-Ad	bronchial
35	chr5:126306200-126308400	Enhancers	NHLF	lung
36	chr5:126306200-126308600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:126306200-126309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:126306200-126309400	Enhancers	Brain Substantia Nigra	brain
39	chr5:126306400-126307400	Enhancers	Fetal Lung	lung
40	chr5:126306400-126307400	Enhancers	Psoas Muscle	Psoas
41	chr5:126306400-126307800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:126306400-126308000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:126306400-126308200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:126306400-126308600	Enhancers	Stomach Mucosa	stomach
45	chr5:126306400-126309200	Enhancers	Brain Hippocampus Middle	brain
46	chr5:126306400-126317800	Weak transcription	Ovary	ovary
47	chr5:126306600-126307200	Weak transcription	Right Atrium	heart
48	chr5:126306600-126307400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:126306600-126307400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:126306600-126307400	Weak transcription	Fetal Brain Female	brain

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