Variant report

Variant	rs17820469
Chromosome Location	chr11:86631040-86631041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86580728..86581938-chr11:86630343..86631549,9	K562	blood:
2	chr11:86580545..86581686-chr11:86630141..86631577,11	MCF-7	breast:
3	chr11:86629735..86631401-chr11:86666027..86667663,2	K562	blood:

Variant related genes	Relation type
ENSG00000174804	Chromatin interaction
ENSG00000246523	Chromatin interaction

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

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

rs_ID	r²[population]
rs17758621	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86624800-86631200	Enhancers	Fetal Muscle Leg	muscle
2	chr11:86626000-86631200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:86627600-86642000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:86627800-86635200	Weak transcription	Psoas Muscle	Psoas
5	chr11:86628000-86631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:86628000-86631200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:86628000-86631600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:86628000-86635000	Weak transcription	Aorta	Aorta
9	chr11:86628000-86635400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:86628000-86635400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:86628000-86635600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:86628000-86643200	Weak transcription	Pancreas	Pancrea
13	chr11:86628000-86643200	Weak transcription	Spleen	Spleen
14	chr11:86628200-86635000	Weak transcription	Ovary	ovary
15	chr11:86628200-86635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:86629000-86635800	Weak transcription	NHLF	lung
17	chr11:86629400-86637800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86630000-86631200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:86630000-86631200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:86630400-86634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:86630400-86635200	Weak transcription	Right Atrium	heart
22	chr11:86630400-86641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:86630600-86631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86630600-86631800	Enhancers	Colon Smooth Muscle	Colon
25	chr11:86630600-86634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:86630600-86635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:86630600-86635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:86630600-86643400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:86630800-86631200	Enhancers	HUVEC	blood vessel
30	chr11:86630800-86631400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:86630800-86631400	Weak transcription	Adipose Nuclei	Adipose
32	chr11:86630800-86634400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:86630800-86634600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:86630800-86634600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:86630800-86635200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:86630800-86635400	Weak transcription	Fetal Lung	lung
37	chr11:86630800-86635400	Weak transcription	Fetal Stomach	stomach
38	chr11:86630800-86635400	Weak transcription	NH-A	brain
39	chr11:86630800-86636000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:86630800-86636000	Weak transcription	NHDF-Ad	bronchial
41	chr11:86631000-86634200	Weak transcription	Fetal Kidney	kidney
42	chr11:86631000-86634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:86631000-86634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:86631000-86635000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:86631000-86635800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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