Variant report

Variant	rs17819523
Chromosome Location	chr11:86335504-86335505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86333716..86335655-chr11:86521325..86523278,2	MCF-7	breast:
2	chr11:86335345..86338144-chr11:86338587..86341664,3	K562	blood:
3	chr11:86332972..86336293-chr11:86338009..86340844,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10501626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898526	0.89[CHB][hapmap]
rs11234743	0.93[CHB][hapmap]
rs11234744	0.90[CHB][hapmap]
rs11234745	0.93[CHB][hapmap]
rs12285344	0.85[ASN][1000 genomes]
rs12573953	0.93[ASN][1000 genomes]
rs12575285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17211458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17211563	0.98[ASN][1000 genomes]
rs17211584	0.97[ASN][1000 genomes]
rs17818784	0.98[ASN][1000 genomes]
rs17818845	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17819683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2226566	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2433413	0.93[CHB][hapmap]
rs2433415	0.93[CHB][hapmap]
rs471780	0.95[ASN][1000 genomes]
rs539214	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56140354	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56935647	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs581796	0.95[ASN][1000 genomes]
rs600242	0.93[CHB][hapmap]
rs60229086	0.91[ASN][1000 genomes]
rs602498	0.93[CHB][hapmap]
rs60379752	0.91[ASN][1000 genomes]
rs623785	0.92[ASN][1000 genomes]
rs659301	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs66909667	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67112634	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs672266	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs686768	0.88[ASN][1000 genomes]
rs687138	0.95[ASN][1000 genomes]
rs7108746	0.81[TSI][hapmap]
rs7109270	0.81[TSI][hapmap]
rs72955481	0.93[ASN][1000 genomes]
rs72957414	0.98[ASN][1000 genomes]
rs72957420	0.98[ASN][1000 genomes]
rs72957437	0.97[ASN][1000 genomes]
rs72957439	0.97[ASN][1000 genomes]
rs72957441	0.97[ASN][1000 genomes]
rs72957457	0.93[ASN][1000 genomes]
rs72957470	0.89[ASN][1000 genomes]
rs72957473	0.89[ASN][1000 genomes]
rs72957476	0.89[ASN][1000 genomes]
rs72959410	0.91[ASN][1000 genomes]
rs72959413	0.88[ASN][1000 genomes]
rs72959421	0.88[ASN][1000 genomes]
rs72959427	0.89[ASN][1000 genomes]
rs72959431	0.86[ASN][1000 genomes]
rs746491	0.92[CHB][hapmap]
rs7480835	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9667489	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86321800-86343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:86330800-86341600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86331000-86343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86331000-86346200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:86332000-86335600	Enhancers	Fetal Heart	heart
6	chr11:86332200-86338800	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:86332400-86337000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:86332800-86336000	Enhancers	Right Atrium	heart
9	chr11:86332800-86343200	Weak transcription	A549	lung
10	chr11:86333000-86342400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:86333200-86335800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:86333200-86335800	Weak transcription	Adipose Nuclei	Adipose
13	chr11:86333200-86336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:86333200-86336400	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:86333200-86338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:86333200-86338600	Weak transcription	Fetal Lung	lung
17	chr11:86333200-86338800	Weak transcription	HSMMtube	muscle
18	chr11:86333200-86339000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:86333200-86349800	Weak transcription	Esophagus	oesophagus
20	chr11:86333400-86336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:86334000-86338800	Weak transcription	Right Ventricle	heart
22	chr11:86334000-86342200	Enhancers	Ovary	ovary
23	chr11:86334200-86336000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:86334200-86336000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:86334200-86336200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:86334200-86336600	Enhancers	Pancreas	Pancrea
27	chr11:86334200-86336600	Enhancers	Psoas Muscle	Psoas
28	chr11:86334200-86337400	Enhancers	Osteobl	bone
29	chr11:86334400-86335600	Weak transcription	NHDF-Ad	bronchial
30	chr11:86334600-86335800	Flanking Active TSS	NHEK	skin
31	chr11:86334800-86336000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:86334800-86336000	Enhancers	Hela-S3	cervix
33	chr11:86334800-86336200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:86335000-86335600	Enhancers	NHLF	lung
35	chr11:86335000-86336000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:86335000-86336000	Enhancers	HMEC	breast
37	chr11:86335000-86337000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:86335000-86338800	Weak transcription	Brain Anterior Caudate	brain
39	chr11:86335000-86341000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:86335000-86343200	Weak transcription	NH-A	brain
41	chr11:86335000-86343600	Weak transcription	Lung	lung
42	chr11:86335200-86335800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:86335200-86336000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:86335200-86341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:86335200-86342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:86335400-86335800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:86335400-86336400	Weak transcription	Left Ventricle	heart
48	chr11:86335400-86336800	Weak transcription	Stomach Smooth Muscle	stomach

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