Variant report

Variant	rs10067364
Chromosome Location	chr5:126334408-126334409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126312688..126315514-chr5:126332602..126335445,3	K562	blood:
2	chr5:126332731..126335455-chr5:126360068..126362849,3	K562	blood:
3	chr5:126220316..126221859-chr5:126333591..126335287,2	K562	blood:
4	chr5:126307245..126309277-chr5:126332879..126335522,2	K562	blood:
5	chr5:126317258..126320149-chr5:126332134..126334616,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10053382	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10057084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10060747	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10065302	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10071669	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1013662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1034844	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs10463826	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10491284	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10900789	0.96[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs11241912	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11241913	0.82[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs11949302	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956061	0.96[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs11960799	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12515192	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs12655220	0.82[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12655640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13154281	0.87[EUR][1000 genomes]
rs13189409	0.91[EUR][1000 genomes]
rs2041318	0.85[CEU][hapmap];0.86[CHB][hapmap];0.80[TSI][hapmap]
rs2108458	0.91[EUR][1000 genomes]
rs2108459	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2191209	0.92[CEU][hapmap];0.95[CHB][hapmap];0.80[EUR][1000 genomes]
rs2240527	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2240528	1.00[CEU][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs248040	0.86[CHB][hapmap]
rs248081	0.84[CEU][hapmap]
rs248107	0.89[CEU][hapmap]
rs4131248	0.86[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4380710	0.82[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4835921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4835922	0.87[EUR][1000 genomes]
rs4836300	0.85[TSI][hapmap]
rs4836306	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4836307	1.00[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs6860726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs6883871	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891329	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6891436	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs6899133	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs727038	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs729607	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7706333	1.00[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7713933	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7716410	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7721948	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7729349	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7731621	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs7733551	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7736693	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs9327424	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9327425	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9327426	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9327428	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10067364	C5orf63	cis	Nerve Tibial	GTEx
rs10067364	MARCH3	cis	Muscle Skeletal	GTEx
rs10067364	MARCH3	cis	cerebellum	SCAN
rs10067364	C5orf63	cis	Esophagus Muscularis	GTEx
rs10067364	MARCH3	cis	parietal	SCAN
rs10067364	C5orf63	cis	Artery Tibial	GTEx
rs10067364	C5orf63	cis	Artery Aorta	GTEx

Chromatin state (count:62 , 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	chr5:126323400-126334800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126327800-126335600	Enhancers	Fetal Heart	heart
5	chr5:126328800-126335400	Enhancers	Psoas Muscle	Psoas
6	chr5:126331800-126335600	Enhancers	Left Ventricle	heart
7	chr5:126333000-126335400	Enhancers	Fetal Muscle Leg	muscle
8	chr5:126333200-126335200	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:126333200-126335600	Enhancers	Right Ventricle	heart
10	chr5:126333400-126335200	Flanking Active TSS	K562	blood
11	chr5:126333400-126335400	Enhancers	Brain Hippocampus Middle	brain
12	chr5:126333400-126335400	Enhancers	Brain Substantia Nigra	brain
13	chr5:126333400-126336200	Enhancers	Stomach Mucosa	stomach
14	chr5:126333600-126335000	Enhancers	Osteobl	bone
15	chr5:126333600-126335200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:126333600-126335600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:126333800-126334600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:126333800-126334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:126333800-126334600	Enhancers	Primary B cells from cord blood	blood
20	chr5:126333800-126334600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:126333800-126334600	Enhancers	HUVEC	blood vessel
22	chr5:126333800-126335000	Enhancers	Adipose Nuclei	Adipose
23	chr5:126333800-126335400	Enhancers	Pancreas	Pancrea
24	chr5:126333800-126335600	Enhancers	Brain Anterior Caudate	brain
25	chr5:126334000-126334600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:126334000-126334600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:126334000-126334600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:126334000-126334800	Enhancers	NHLF	lung
29	chr5:126334000-126335200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:126334000-126335200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:126334000-126335200	Enhancers	Brain Angular Gyrus	brain
32	chr5:126334000-126335400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:126334000-126335400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:126334000-126335400	Enhancers	Right Atrium	heart
35	chr5:126334200-126334800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:126334200-126335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:126334200-126335400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:126334200-126335600	Enhancers	HSMM	muscle
39	chr5:126334200-126337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:126334400-126334600	Enhancers	HSMMtube	muscle
42	chr5:126334400-126334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:126334400-126334800	Enhancers	GM12878-XiMat	blood
44	chr5:126334400-126335000	Enhancers	NHDF-Ad	bronchial
45	chr5:126334400-126335200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:126334400-126335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:126334400-126335400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:126334400-126335400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:126334400-126337000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:126334400-126337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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