Variant report

Variant	rs3132619
Chromosome Location	chr6:30374211-30374212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28994665	0.80[EUR][1000 genomes]
rs3094023	0.80[AMR][1000 genomes]
rs3094034	0.97[EUR][1000 genomes]
rs3094035	0.83[EUR][1000 genomes]
rs3094036	0.97[EUR][1000 genomes]
rs3094049	0.83[EUR][1000 genomes]
rs3094717	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3095276	0.80[AMR][1000 genomes]
rs3130116	1.00[EUR][1000 genomes]
rs3130117	0.80[AMR][1000 genomes]
rs3130247	0.80[AMR][1000 genomes]
rs3131112	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132616	0.90[AMR][1000 genomes];0.95[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	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
2	nsv884063	chr6:30366100-30397219	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv462742	chr6:30372570-30410206	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv601477	chr6:30372570-30410206	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3132619	HLA-C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30373000-30374400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:30373800-30374400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:30374000-30374400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr6:30374200-30374400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:30374200-30374600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:30374200-30374800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:30374200-30374800	Bivalent Enhancer	Brain Germinal Matrix	brain

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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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