Variant report

Variant	rs7449089
Chromosome Location	chr5:126276239-126276240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10051184	0.82[AMR][1000 genomes]
rs10053382	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10060747	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10065302	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10071669	0.86[EUR][1000 genomes]
rs1034844	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10491284	0.82[EUR][1000 genomes]
rs10900789	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241913	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11949302	0.86[EUR][1000 genomes]
rs11956061	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12515192	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12655220	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13189409	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2108458	0.84[ASN][1000 genomes]
rs2108459	0.84[ASN][1000 genomes]
rs2240527	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240528	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28528146	0.80[EUR][1000 genomes]
rs4131248	0.82[EUR][1000 genomes]
rs4380710	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836300	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4836307	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6595746	0.83[AMR][1000 genomes]
rs6864861	0.82[EUR][1000 genomes]
rs6891329	0.80[EUR][1000 genomes]
rs6891436	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6897653	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs729607	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7706333	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7716410	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7721948	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7733551	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736693	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9327425	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7449089	MARCH3	cis	Muscle Skeletal	GTEx
rs7449089	C5orf63	cis	Esophagus Muscularis	GTEx
rs7449089	C5orf63	cis	Artery Tibial	GTEx
rs7449089	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:126262400-126277600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:126263200-126280800	Weak transcription	K562	blood
6	chr5:126264600-126283000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:126267200-126282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:126268200-126280000	Weak transcription	Right Ventricle	heart
9	chr5:126272400-126285200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:126272800-126277400	Weak transcription	Psoas Muscle	Psoas
11	chr5:126272800-126282400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:126273000-126277600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:126273000-126278600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:126273000-126278600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:126273000-126283400	Weak transcription	Pancreas	Pancrea
16	chr5:126273000-126285200	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:126273200-126277400	Weak transcription	Fetal Heart	heart
18	chr5:126274200-126277400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:126275000-126282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:126275000-126282600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:126275000-126299600	Weak transcription	HSMM	muscle
22	chr5:126275400-126277200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:126275800-126277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:126275800-126277400	Weak transcription	Left Ventricle	heart
25	chr5:126275800-126278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:126275800-126281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:126275800-126286000	Weak transcription	HSMMtube	muscle
28	chr5:126276000-126278200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:126276000-126282200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:126276200-126290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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