Variant report

Variant	rs1119211
Chromosome Location	chr6:28309136-28309137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28220144..28224072-chr6:28306303..28309254,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1062169	0.82[GIH][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs1150713	0.80[ASN][1000 genomes]
rs1150714	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1150717	0.80[ASN][1000 genomes]
rs1150719	1.00[JPT][hapmap]
rs1150720	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11970439	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13210258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893817	1.00[JPT][hapmap]
rs17301128	1.00[CEU][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17312661	0.94[CEU][hapmap]
rs1778477	0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1778478	0.80[ASN][1000 genomes]
rs2281043	0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2799081	0.83[EUR][1000 genomes]
rs3800325	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs56053755	0.80[ASN][1000 genomes]
rs56131013	0.92[EUR][1000 genomes]
rs6456811	0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6456814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6456816	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6903652	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs6903823	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs6912584	1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6921919	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6922111	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6923170	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7766356	0.83[CEU][hapmap]
rs9468350	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1119211	HLA-G	cis	multi-tissue	Pritchard
rs1119211	AL022393.7	cis	Muscle Skeletal	GTEx
rs1119211	ZSCAN23	cis	Artery Tibial	GTEx
rs1119211	HLA-A	cis	multi-tissue	Pritchard
rs1119211	RP5-874C20.3	cis	Thyroid	GTEx
rs1119211	ZSCAN23	cis	Muscle Skeletal	GTEx
rs1119211	HLA-H	cis	multi-tissue	Pritchard
rs1119211	BTN3A2	cis	multi-tissue	Pritchard
rs1119211	BTN3A2	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28304400-28317400	Weak transcription	Pancreas	Pancrea
2	chr6:28304800-28317200	Weak transcription	Aorta	Aorta
3	chr6:28305000-28310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:28305000-28317200	Weak transcription	Brain Anterior Caudate	brain
5	chr6:28305000-28317200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:28305200-28311800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:28305200-28313800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:28305200-28317000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:28305200-28317000	Weak transcription	NHEK	skin
10	chr6:28305200-28317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:28305200-28317200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:28305200-28317200	Weak transcription	HSMMtube	muscle
13	chr6:28305800-28317200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:28307600-28309400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:28308800-28309400	Enhancers	Dnd41	blood

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