Variant report

Variant	rs4944649
Chromosome Location	chr11:86697008-86697009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86696303..86698061-chr11:86699562..86701094,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943965	1.00[AMR][1000 genomes]
rs4944642	1.00[AMR][1000 genomes]
rs4944644	1.00[AMR][1000 genomes]
rs57561938	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735303	1.00[AMR][1000 genomes]
rs61735304	1.00[AMR][1000 genomes]
rs7106960	1.00[AMR][1000 genomes]
rs7121504	1.00[AMR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86689800-86697200	Enhancers	Adipose Nuclei	Adipose
2	chr11:86691400-86699600	Weak transcription	Ovary	ovary
3	chr11:86692400-86700800	Weak transcription	Fetal Heart	heart
4	chr11:86694200-86700600	Weak transcription	Placenta	Placenta
5	chr11:86694400-86698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:86694400-86700200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:86694400-86700200	Weak transcription	Right Ventricle	heart
8	chr11:86694400-86700600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:86694400-86702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:86695600-86699600	Weak transcription	Liver	Liver
11	chr11:86695800-86699000	Weak transcription	Hela-S3	cervix
12	chr11:86696000-86700200	Weak transcription	Left Ventricle	heart
13	chr11:86696000-86700200	Weak transcription	Right Atrium	heart
14	chr11:86696000-86700600	Weak transcription	HSMMtube	muscle
15	chr11:86696000-86700800	Weak transcription	HepG2	liver
16	chr11:86696400-86700200	Weak transcription	Psoas Muscle	Psoas
17	chr11:86696400-86700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:86696400-86700600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:86696400-86700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:86696600-86700200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:86696600-86700600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86696800-86697200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:86697000-86700200	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:86697000-86700600	Weak transcription	Aorta	Aorta

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