Variant report

Variant	rs2157605
Chromosome Location	chr6:30454076-30454077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30453826-30454590	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:30453903-30454555	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:30453860-30454468	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:30453979-30454646	GM12892	blood:	n/a	n/a
5	POLR2A	chr6:30453936-30454143	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:30453846-30454697	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:30453989-30454129	MCF-7	breast:	n/a	n/a
8	ZBTB33	chr6:30453983-30454480	K562	blood:	n/a	n/a
9	HEY1	chr6:30453884-30454513	K562	blood:	n/a	n/a
10	POLR2A	chr6:30453998-30454114	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30454054..30458400-chr6:30522321..30525971,4	K562	blood:
2	chr6:30451337..30455149-chr6:30456477..30458768,3	MCF-7	breast:
3	chr6:30450075..30454964-chr6:30456336..30460057,8	MCF-7	breast:
4	chr6:30451366..30455453-chr6:30455599..30459533,6	K562	blood:
5	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
6	chr6:30450826..30454342-chr6:30455231..30458641,4	K562	blood:
7	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:

No data

Variant related genes	Relation type
HLA-E	TF binding region
ENSG00000204576	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1076832	0.82[AMR][1000 genomes]
rs12210448	0.85[AMR][1000 genomes]
rs12214298	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12214645	0.85[AMR][1000 genomes]
rs17188729	0.81[AMR][1000 genomes]
rs17188743	0.84[AMR][1000 genomes]
rs17195068	0.90[AMR][1000 genomes]
rs17195089	0.84[AMR][1000 genomes]
rs17410877	0.88[AMR][1000 genomes]
rs2074502	0.83[AMR][1000 genomes]
rs34111681	0.87[AMR][1000 genomes]
rs34124993	0.92[AMR][1000 genomes]
rs4711217	0.80[AMR][1000 genomes]
rs4713325	0.83[AMR][1000 genomes]
rs4713326	0.83[AMR][1000 genomes]
rs4713328	0.83[AMR][1000 genomes]
rs6930977	0.85[AMR][1000 genomes]
rs6941668	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
9	nsv970103	chr6:30452455-30460072	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2157605	HLA-E	cis	multi-tissue	Pritchard
rs2157605	HLA-H	cis	multi-tissue	Pritchard
rs2157605	HLA-DRB5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30450200-30454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr6:30450200-30455600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:30450400-30455400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:30451600-30455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:30452200-30455600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:30452400-30455400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:30452400-30455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:30452600-30455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:30453400-30454200	Enhancers	NHEK	skin
10	chr6:30454000-30456400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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