Variant report

Variant	rs729607
Chromosome Location	chr5:126334863-126334864
allele	A/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:

Extended variants
information (count: 60 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10051184	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10053382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10057084	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10060747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10067364	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10071669	0.96[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs1013662	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1034844	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10463826	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10491284	1.00[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs10491285	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap]
rs10900789	0.88[ASW][hapmap];0.96[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];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11241912	0.96[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs11241913	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241916	0.80[EUR][1000 genomes]
rs11949302	0.96[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs11956061	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11960799	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs12515192	1.00[ASW][hapmap];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655220	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12655640	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12657369	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13154281	0.82[EUR][1000 genomes]
rs13189409	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041318	0.85[CEU][hapmap]
rs2108458	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2108459	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2191209	0.92[CEU][hapmap]
rs2240527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240528	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248081	0.84[CEU][hapmap]
rs248107	0.89[CEU][hapmap]
rs4131248	0.96[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs4380710	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835921	1.00[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4835922	0.82[EUR][1000 genomes]
rs4836300	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs4836306	0.89[EUR][1000 genomes]
rs4836307	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];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6595746	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6860726	0.96[CEU][hapmap]
rs6883871	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs6891436	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899133	0.82[EUR][1000 genomes]
rs727038	0.85[CEU][hapmap]
rs7449089	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7706333	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713933	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs7716410	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs7721948	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7731621	0.89[CEU][hapmap]
rs7733551	0.94[ASW][hapmap];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];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7736693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9327424	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9327425	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9327426	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9327428	1.00[CEU][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][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
rs729607	C5orf63	cis	Artery Aorta	GTEx
rs729607	C5orf63	cis	Esophagus Muscularis	GTEx
rs729607	MARCH3	cis	cerebellum	SCAN
rs729607	MARCH3	cis	Muscle Skeletal	GTEx
rs729607	MARCH3	cis	parietal	SCAN
rs729607	C5orf63	cis	Artery Tibial	GTEx
rs729607	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:61 , 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	chr5:126327800-126335600	Enhancers	Fetal Heart	heart
4	chr5:126328800-126335400	Enhancers	Psoas Muscle	Psoas
5	chr5:126331800-126335600	Enhancers	Left Ventricle	heart
6	chr5:126333000-126335400	Enhancers	Fetal Muscle Leg	muscle
7	chr5:126333200-126335200	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:126333200-126335600	Enhancers	Right Ventricle	heart
9	chr5:126333400-126335200	Flanking Active TSS	K562	blood
10	chr5:126333400-126335400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:126333400-126335400	Enhancers	Brain Substantia Nigra	brain
12	chr5:126333400-126336200	Enhancers	Stomach Mucosa	stomach
13	chr5:126333600-126335000	Enhancers	Osteobl	bone
14	chr5:126333600-126335200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:126333600-126335600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:126333800-126335000	Enhancers	Adipose Nuclei	Adipose
17	chr5:126333800-126335400	Enhancers	Pancreas	Pancrea
18	chr5:126333800-126335600	Enhancers	Brain Anterior Caudate	brain
19	chr5:126334000-126335200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:126334000-126335200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:126334000-126335200	Enhancers	Brain Angular Gyrus	brain
22	chr5:126334000-126335400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:126334000-126335400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:126334000-126335400	Enhancers	Right Atrium	heart
25	chr5:126334200-126335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:126334200-126335400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:126334200-126335600	Enhancers	HSMM	muscle
28	chr5:126334200-126337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:126334400-126335000	Enhancers	NHDF-Ad	bronchial
31	chr5:126334400-126335200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:126334400-126335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:126334400-126335400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:126334400-126335400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:126334400-126337000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:126334400-126337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:126334400-126337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:126334400-126337200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:126334400-126337200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:126334400-126337200	Weak transcription	NH-A	brain
41	chr5:126334400-126337400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:126334400-126337400	Weak transcription	Small Intestine	intestine
43	chr5:126334400-126337800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:126334400-126338400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:126334400-126338600	Weak transcription	Lung	lung
46	chr5:126334400-126339800	Weak transcription	Spleen	Spleen
47	chr5:126334400-126345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:126334400-126363000	Weak transcription	Ovary	ovary
49	chr5:126334600-126337000	Weak transcription	HSMMtube	muscle
50	chr5:126334600-126337000	Weak transcription	HUVEC	blood vessel

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