Variant report

Variant	rs17149308
Chromosome Location	chr11:86412682-86412683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
2	chr11:86411982..86413840-chr11:86417333..86419243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10501625	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs12099044	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17149234	0.85[TSI][hapmap]
rs17149305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149311	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149318	1.00[ASN][1000 genomes]
rs17149319	0.89[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149320	0.89[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149325	0.89[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149326	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149329	1.00[ASN][1000 genomes]
rs1945141	0.87[AMR][1000 genomes]
rs483538	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55642252	0.87[AMR][1000 genomes]
rs55862210	1.00[ASN][1000 genomes]
rs55960749	0.82[AMR][1000 genomes]
rs56272084	0.87[AMR][1000 genomes]
rs58173252	0.87[AMR][1000 genomes]
rs58968600	0.87[AMR][1000 genomes]
rs59227416	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59339534	0.87[AMR][1000 genomes]
rs61182121	0.87[AMR][1000 genomes]
rs61230561	0.87[AMR][1000 genomes]
rs61248687	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs622079	0.86[ASW][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103556	0.87[AMR][1000 genomes]
rs7103642	0.87[AMR][1000 genomes]
rs73514376	0.87[AMR][1000 genomes]
rs73518365	1.00[ASN][1000 genomes]
rs73518368	1.00[ASN][1000 genomes]
rs73528019	0.87[AMR][1000 genomes]
rs7940187	0.81[GIH][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	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
rs17149308	C11orf73	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
3	chr11:86400600-86414800	Weak transcription	Ovary	ovary
4	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
5	chr11:86407600-86412800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:86407600-86417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:86408000-86413200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:86408000-86431400	Weak transcription	Aorta	Aorta
9	chr11:86408200-86413200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:86408400-86413200	Weak transcription	NHLF	lung
11	chr11:86409600-86413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:86410200-86413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:86410600-86413000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:86410600-86419800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:86410800-86416400	Weak transcription	A549	lung
16	chr11:86410800-86419400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:86410800-86420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:86411000-86428000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:86411000-86429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:86411200-86413400	Weak transcription	Psoas Muscle	Psoas
21	chr11:86411800-86413200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:86412400-86413800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:86412400-86418800	Enhancers	Colon Smooth Muscle	Colon
24	chr11:86412600-86413600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:86412600-86413600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:86412600-86413800	Enhancers	NHDF-Ad	bronchial
27	chr11:86412600-86414400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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