Variant report

Variant	rs3130362
Chromosome Location	chr6:30340397-30340398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30325386..30328120-chr6:30339595..30341220,2	K562	blood:
2	chr6:30334829..30337793-chr6:30339331..30341156,2	K562	blood:
3	chr6:30340032..30341791-chr6:30342072..30343703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224486	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2078680	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094037	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094038	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094039	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094040	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094041	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094042	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094043	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094044	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094045	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094046	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094047	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094048	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094623	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3094695	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094696	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094697	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094698	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094699	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094700	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094701	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3094702	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3129816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129825	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3129826	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3129827	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3129828	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3130105	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130106	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130107	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130108	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130109	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130110	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130111	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130112	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130113	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3130114	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3130115	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3132621	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3132622	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3132623	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3132639	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132640	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3132643	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132644	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261700	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9391683	0.83[ASN][1000 genomes]
rs9391684	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3130362	C6orf227	cis	cerebellum	SCAN
rs3130362	HLA-E	cis	multi-tissue	Pritchard
rs3130362	ABT1	cis	parietal	SCAN
rs3130362	ZNF192	cis	parietal	SCAN
rs3130362	ZNF323	cis	parietal	SCAN
rs3130362	ZKSCAN4	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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