Variant report

Variant	rs6595746
Chromosome Location	chr5:126370645-126370646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126364056..126368822-chr5:126369920..126375542,6	MCF-7	breast:
2	chr5:126365480..126368335-chr5:126368822..126372507,5	MCF-7	breast:
3	chr5:126369468..126371186-chr5:126378784..126381001,2	K562	blood:
4	chr5:126370055..126372210-chr5:126405124..126407966,2	K562	blood:
5	chr5:126368719..126372377-chr5:126376805..126380284,3	K562	blood:
6	chr5:126370445..126372377-chr5:126376805..126378615,2	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10051184	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053382	0.85[AMR][1000 genomes]
rs10060747	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10065302	0.86[AMR][1000 genomes]
rs1013662	0.80[EUR][1000 genomes]
rs1034844	0.83[AMR][1000 genomes]
rs11241913	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11241916	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11960799	0.80[EUR][1000 genomes]
rs12515192	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12655220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154281	0.81[EUR][1000 genomes]
rs13189409	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2108458	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2108459	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2109215	0.82[EUR][1000 genomes]
rs2240527	0.85[AMR][1000 genomes]
rs2240528	0.82[AMR][1000 genomes]
rs2408790	0.82[EUR][1000 genomes]
rs4380710	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4835922	0.81[EUR][1000 genomes]
rs4836307	0.84[AMR][1000 genomes]
rs6859962	0.82[EUR][1000 genomes]
rs6883672	0.82[EUR][1000 genomes]
rs6883871	0.80[EUR][1000 genomes]
rs6891436	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6897653	0.81[AFR][1000 genomes]
rs6898415	0.86[EUR][1000 genomes]
rs729607	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7449089	0.83[AMR][1000 genomes]
rs7706333	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7721948	0.86[AMR][1000 genomes]
rs7733551	0.85[AMR][1000 genomes]
rs7736693	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9327425	0.86[AMR][1000 genomes]
rs9327428	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3470686	chr5:126369956-126370778	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3470687	chr5:126369956-126370778	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6595746	MARCH3	cis	Muscle Skeletal	GTEx
rs6595746	C5orf63	cis	Nerve Tibial	GTEx
rs6595746	C5orf63	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126367600-126376000	Weak transcription	Left Ventricle	heart
3	chr5:126367600-126376600	Weak transcription	Right Atrium	heart
4	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
6	chr5:126367800-126373200	Weak transcription	Fetal Heart	heart
7	chr5:126367800-126376600	Weak transcription	Pancreas	Pancrea
8	chr5:126368000-126376400	Weak transcription	K562	blood
9	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood

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