Variant report

Variant	rs508443
Chromosome Location	chr11:66509369-66509370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66504841..66506997-chr11:66509351..66510929,2	MCF-7	breast:
2	chr11:66509258..66512699-chr11:66579656..66583636,3	MCF-7	breast:
3	chr11:66464627..66468274-chr11:66508302..66512299,4	MCF-7	breast:
4	chr11:66507747..66509842-chr11:66509846..66512501,3	K562	blood:
5	chr11:66483106..66491369-chr11:66506993..66514506,29	MCF-7	breast:
6	chr11:66508425..66510038-chr11:66515703..66517636,2	MCF-7	breast:
7	chr11:66492885..66503049-chr11:66507993..66515918,26	MCF-7	breast:
8	chr11:66507117..66509640-chr11:66510204..66512945,3	K562	blood:
9	chr11:66507848..66510103-chr11:66607914..66610795,2	K562	blood:
10	chr11:66489583..66494205-chr11:66506557..66509696,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173715	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12417769	0.86[ASN][1000 genomes]
rs12577111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12804382	0.87[ASN][1000 genomes]
rs12805133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1671064	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1791684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1815739	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2276138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2513658	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3741363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs486584	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4930387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4930391	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs498045	0.82[CHB][hapmap]
rs503250	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs509556	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs535211	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs540874	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs543191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs556759	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs560556	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs569818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs572846	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs577023	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs580910	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs594313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs608248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs618838	0.91[JPT][hapmap]
rs627330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs677488	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs678397	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs682842	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7107944	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv897792	chr11:66486143-66529101	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv897793	chr11:66486143-66533469	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs508443	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs508443	ACTN3	cis	Muscle Skeletal	GTEx
rs508443	LRFN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66502000-66511600	Weak transcription	Right Atrium	heart
2	chr11:66505400-66511000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66507800-66511000	Weak transcription	NH-A	brain
4	chr11:66508000-66511200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:66508000-66511200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:66508200-66509800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:66508200-66510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:66508200-66510400	Weak transcription	NHEK	skin
9	chr11:66508200-66510800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:66508200-66510800	Weak transcription	HMEC	breast
11	chr11:66508200-66510800	Weak transcription	HSMMtube	muscle
12	chr11:66508200-66511000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:66508200-66511000	Weak transcription	HSMM	muscle
14	chr11:66508200-66511000	Weak transcription	Osteobl	bone
15	chr11:66508200-66511400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:66508200-66511600	Weak transcription	Esophagus	oesophagus
17	chr11:66508400-66510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:66508600-66510800	Weak transcription	K562	blood
19	chr11:66508600-66511600	Weak transcription	HUVEC	blood vessel

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