Variant report

Variant	rs17758621
Chromosome Location	chr11:86628854-86628855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86579751..86582227-chr11:86628574..86630998,2	K562	blood:
2	chr11:86527774..86530543-chr11:86627685..86629323,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17820457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17820469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86624800-86631200	Enhancers	Fetal Muscle Leg	muscle
2	chr11:86625800-86630800	Enhancers	Fetal Stomach	stomach
3	chr11:86626000-86631200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:86626800-86629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:86627000-86630000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:86627000-86631000	Enhancers	HSMM	muscle
7	chr11:86627200-86630800	Enhancers	NH-A	brain
8	chr11:86627400-86629000	Enhancers	Fetal Lung	lung
9	chr11:86627400-86629000	Enhancers	NHLF	lung
10	chr11:86627400-86629400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:86627600-86630000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:86627600-86642000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:86627800-86629800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:86627800-86630000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:86627800-86630200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:86627800-86630200	Enhancers	Osteobl	bone
17	chr11:86627800-86635200	Weak transcription	Psoas Muscle	Psoas
18	chr11:86628000-86629000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86628000-86629000	Enhancers	A549	lung
20	chr11:86628000-86629400	Enhancers	NHDF-Ad	bronchial
21	chr11:86628000-86629600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86628000-86629600	Weak transcription	Fetal Kidney	kidney
23	chr11:86628000-86630000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:86628000-86630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:86628000-86630000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:86628000-86630200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:86628000-86630200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:86628000-86630400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:86628000-86630400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:86628000-86630400	Enhancers	HUVEC	blood vessel
31	chr11:86628000-86630800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:86628000-86630800	Enhancers	HSMMtube	muscle
33	chr11:86628000-86631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:86628000-86631200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:86628000-86631600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:86628000-86635000	Weak transcription	Aorta	Aorta
37	chr11:86628000-86635400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:86628000-86635400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:86628000-86635600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:86628000-86643200	Weak transcription	Pancreas	Pancrea
41	chr11:86628000-86643200	Weak transcription	Spleen	Spleen
42	chr11:86628200-86635000	Weak transcription	Ovary	ovary
43	chr11:86628200-86635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:86628400-86629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:86628400-86630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:86628400-86630000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:86628400-86630000	Weak transcription	Right Atrium	heart
48	chr11:86628600-86629800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:86628600-86630200	Enhancers	Brain Hippocampus Middle	brain
50	chr11:86628600-86630600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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