Variant report

Variant	rs7952019
Chromosome Location	chr11:86197316-86197317
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86193819..86197796-chr11:86209149..86211774,3	MCF-7	breast:
2	chr11:86196082..86198176-chr11:86220436..86222457,2	MCF-7	breast:
3	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:
4	chr11:86195419..86198314-chr11:86202318..86204209,2	K562	blood:
5	chr11:86196494..86198904-chr11:86208751..86212167,3	MCF-7	breast:
6	chr11:45825345..45827365-chr11:86195201..86197810,2	MCF-7	breast:
7	chr11:86185920..86188742-chr11:86196179..86198154,2	MCF-7	breast:
8	chr11:86169610..86171633-chr11:86195084..86198492,3	MCF-7	breast:
9	chr11:86195503..86197449-chr11:86509855..86511588,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11234667	1.00[ASW][hapmap];0.83[AFR][1000 genomes]
rs11234670	1.00[ASW][hapmap]
rs11819827	1.00[CEU][hapmap]
rs11822620	1.00[ASW][hapmap]
rs11825033	0.82[CEU][hapmap]
rs11826066	1.00[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs12278188	0.85[CEU][hapmap]
rs12281596	0.85[CEU][hapmap]
rs7112309	0.86[MKK][hapmap]
rs751911	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936577	0.85[CEU][hapmap]

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	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	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7952019	FLJ23514	cis	multi-tissue	Pritchard

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
3	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
4	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:86181800-86208800	Weak transcription	Gastric	stomach
7	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
10	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:86189200-86197400	Weak transcription	Fetal Lung	lung
12	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:86191600-86198000	Enhancers	HUVEC	blood vessel
16	chr11:86191800-86197600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:86192000-86198200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:86192200-86198600	Enhancers	NHDF-Ad	bronchial
20	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:86192400-86198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:86194800-86198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:86195000-86203200	Enhancers	Fetal Brain Male	brain
25	chr11:86195200-86201200	Weak transcription	Spleen	Spleen
26	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
27	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:86195600-86202800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:86195600-86203600	Weak transcription	Aorta	Aorta
30	chr11:86195800-86197600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:86195800-86206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:86196000-86203000	Weak transcription	Left Ventricle	heart
33	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
36	chr11:86196400-86197600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:86196400-86198000	Genic enhancers	A549	lung
38	chr11:86196400-86198800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:86196400-86201800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:86196600-86197600	Weak transcription	Fetal Stomach	stomach
42	chr11:86196600-86197600	Weak transcription	HSMMtube	muscle
43	chr11:86196600-86198400	Enhancers	Fetal Brain Female	brain
44	chr11:86196600-86199400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86196600-86199600	Weak transcription	Adipose Nuclei	Adipose
46	chr11:86196600-86199800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:86196600-86201800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:86196600-86203600	Weak transcription	Ovary	ovary
49	chr11:86196600-86208200	Weak transcription	Osteobl	bone
50	chr11:86196800-86197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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