Variant report

Variant	rs9484513
Chromosome Location	chr6:141809915-141809916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:141809509-141809981	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:141809861-141810098	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
RN7SKP106	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10080835	1.00[AMR][1000 genomes]
rs10080954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58606500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7740755	1.00[AMR][1000 genomes]
rs9496034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496041	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9496042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496046	0.94[AFR][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	nsv1019459	chr6:141051249-141862727	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538453	chr6:141051249-141862727	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532070	chr6:141057326-141865359	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1025922	chr6:141090901-141865360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv538454	chr6:141090901-141865360	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1029550	chr6:141372610-142029669	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015835	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv538455	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2755719	chr6:141721907-142123546	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9484513	HBD	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141806200-141827600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:141808800-141810000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:141809200-141810000	Enhancers	Primary B cells from cord blood	blood
4	chr6:141809400-141810000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:141809400-141810000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:141809400-141810000	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:141809400-141810000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:141809400-141810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:141809400-141810000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:141809400-141810000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:141809400-141810000	Enhancers	GM12878-XiMat	blood
12	chr6:141809400-141810000	Enhancers	HSMM	muscle
13	chr6:141809400-141810000	Enhancers	NHDF-Ad	bronchial
14	chr6:141809400-141810000	Enhancers	NHLF	lung
15	chr6:141809400-141810200	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:141809600-141810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:141809600-141810000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:141809600-141810000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:141809600-141810000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:141809600-141810000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:141809600-141810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:141809600-141810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:141809600-141810000	Enhancers	Adipose Nuclei	Adipose
24	chr6:141809600-141810000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:141809600-141810000	Enhancers	Dnd41	blood
26	chr6:141809600-141810000	Enhancers	HUVEC	blood vessel
27	chr6:141809600-141810000	Enhancers	Osteobl	bone

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