Variant report

Variant	rs9386507
Chromosome Location	chr6:106517778-106517779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106517286..106519528-chr6:106532468..106534648,2	K562	blood:

Variant related genes	Relation type
ENSG00000057657	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1010273	0.88[JPT][hapmap]
rs4555967	0.94[ASN][1000 genomes]
rs4945741	0.98[ASN][1000 genomes]
rs4946725	0.88[JPT][hapmap]
rs58670852	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58813384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925611	0.98[ASN][1000 genomes]
rs7747748	0.98[ASN][1000 genomes]
rs9373831	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9384595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9384597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9384598	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9386506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9386508	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398061	0.94[ASN][1000 genomes]
rs9398062	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9386507	PRDM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106514800-106519400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:106516400-106518200	Genic enhancers	Fetal Intestine Large	intestine
3	chr6:106516600-106518200	Enhancers	Fetal Heart	heart
4	chr6:106516800-106517800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:106516800-106518000	Genic enhancers	Fetal Intestine Small	intestine
6	chr6:106517200-106517800	Enhancers	HMEC	breast
7	chr6:106517200-106518000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:106517200-106518000	Enhancers	NH-A	brain
9	chr6:106517400-106517800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:106517400-106517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:106517400-106517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:106517400-106517800	Enhancers	Fetal Brain Male	brain
13	chr6:106517400-106517800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr6:106517400-106517800	Enhancers	Fetal Stomach	stomach
15	chr6:106517400-106517800	Enhancers	Pancreas	Pancrea
16	chr6:106517400-106517800	Enhancers	Psoas Muscle	Psoas
17	chr6:106517400-106517800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:106517400-106517800	Enhancers	A549	lung
19	chr6:106517400-106517800	Enhancers	HSMM	muscle
20	chr6:106517400-106518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:106517400-106518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:106517400-106518000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:106517400-106518000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:106517400-106518000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:106517400-106518000	Enhancers	Small Intestine	intestine
26	chr6:106517400-106518000	Enhancers	NHEK	skin
27	chr6:106517400-106518000	Enhancers	NHLF	lung
28	chr6:106517400-106518000	Enhancers	Osteobl	bone
29	chr6:106517400-106518200	Enhancers	Hela-S3	cervix
30	chr6:106517600-106517800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:106517600-106517800	Bivalent Enhancer	Fetal Lung	lung
32	chr6:106517600-106518000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:106517600-106518000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:106517600-106518000	Enhancers	Liver	Liver
35	chr6:106517600-106518000	Enhancers	Fetal Brain Female	brain
36	chr6:106517600-106518000	Enhancers	HSMMtube	muscle
37	chr6:106517600-106518000	Enhancers	NHDF-Ad	bronchial

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