Variant report

Variant	rs2844683
Chromosome Location	chr6:31003436-31003437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30990191..30992901-chr6:31003159..31005249,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2394428	0.86[EUR][1000 genomes]
rs2394429	0.81[EUR][1000 genomes]
rs2394430	0.86[EUR][1000 genomes]
rs2517538	0.84[EUR][1000 genomes]
rs2517539	0.82[EUR][1000 genomes]
rs2517543	0.85[EUR][1000 genomes]
rs2517548	0.85[EUR][1000 genomes]
rs2517550	0.86[EUR][1000 genomes]
rs2517551	0.81[EUR][1000 genomes]
rs2517552	0.85[EUR][1000 genomes]
rs2517553	0.86[EUR][1000 genomes]
rs2523870	0.84[EUR][1000 genomes]
rs2523872	0.84[EUR][1000 genomes]
rs2523873	0.85[EUR][1000 genomes]
rs2523874	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2844665	0.86[EUR][1000 genomes]
rs2844669	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2844672	0.86[EUR][1000 genomes]
rs2844681	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3131927	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2844683	HLA-C	Cis_1M	lymphoblastoid	RTeQTL
rs2844683	TCF19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30997800-31005000	Weak transcription	Right Atrium	heart
2	chr6:30999200-31004400	Weak transcription	Pancreas	Pancrea
3	chr6:31001600-31004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:31002800-31004800	Weak transcription	Gastric	stomach
5	chr6:31003400-31006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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