Variant report

Variant	rs3132648
Chromosome Location	chr6:30330392-30330393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30323144..30325675-chr6:30329322..30331763,2	K562	blood:
2	chr6:30314566..30317004-chr6:30328728..30331075,2	MCF-7	breast:
3	chr6:30328664..30331114-chr6:30333217..30335486,2	K562	blood:
4	chr6:30324851..30326934-chr6:30328624..30330610,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11158	0.81[EUR][1000 genomes]
rs2106072	0.81[EUR][1000 genomes]
rs2517609	0.88[EUR][1000 genomes]
rs2517617	0.88[EUR][1000 genomes]
rs2517622	0.81[EUR][1000 genomes]
rs2523712	0.88[EUR][1000 genomes]
rs2523729	0.81[EUR][1000 genomes]
rs2844777	0.91[EUR][1000 genomes]
rs3094034	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3094036	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3094054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094064	0.98[EUR][1000 genomes]
rs3094066	0.95[EUR][1000 genomes]
rs3094067	0.98[EUR][1000 genomes]
rs3094069	0.95[EUR][1000 genomes]
rs3094078	0.95[EUR][1000 genomes]
rs3094620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094621	0.89[EUR][1000 genomes]
rs3094622	0.89[EUR][1000 genomes]
rs3094624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094628	0.90[EUR][1000 genomes]
rs3129815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3129830	0.95[EUR][1000 genomes]
rs3130350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130355	0.98[EUR][1000 genomes]
rs3130363	0.86[EUR][1000 genomes]
rs3130364	1.00[EUR][1000 genomes]
rs3130377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130380	0.95[EUR][1000 genomes]
rs3130399	0.95[EUR][1000 genomes]
rs3132647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3132648	HLA-C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30326400-30331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:30329800-30331000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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