Variant report

Variant	rs17866182
Chromosome Location	chr11:19728792-19728793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19728789..19732111-chr11:19732112..19734357,5	K562	blood:
2	chr11:19725204..19731646-chr11:19732112..19738727,11	K562	blood:

Variant related genes	Relation type
ENSG00000166833	Chromatin interaction
ENSG00000270607	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10232912	1.00[AMR][1000 genomes]
rs17865398	0.90[AFR][1000 genomes]
rs17865431	0.90[AFR][1000 genomes]
rs17867074	0.85[AFR][1000 genomes]
rs17869283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv897031	chr11:19727800-19770798	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19711400-19733000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:19718600-19732400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:19720600-19733400	Weak transcription	Right Atrium	heart
4	chr11:19720800-19732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:19725000-19733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:19725200-19733400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:19725200-19733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:19725600-19732000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:19725600-19732800	Weak transcription	Fetal Stomach	stomach
10	chr11:19725800-19733000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:19727400-19732600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:19727400-19732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:19727600-19730400	Strong transcription	HSMM	muscle
14	chr11:19727600-19731600	Weak transcription	Aorta	Aorta
15	chr11:19727600-19731600	Weak transcription	Fetal Heart	heart
16	chr11:19727600-19731800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:19727600-19732600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:19727600-19732800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:19727600-19733000	Weak transcription	HSMMtube	muscle
20	chr11:19727800-19729600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:19727800-19729800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:19727800-19732600	Weak transcription	Fetal Lung	lung
23	chr11:19727800-19732800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:19727800-19732800	Weak transcription	Hela-S3	cervix
25	chr11:19727800-19732800	Weak transcription	NHLF	lung
26	chr11:19727800-19733200	Weak transcription	Osteobl	bone
27	chr11:19727800-19733400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:19728000-19731800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:19728000-19732800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:19728200-19729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:19728200-19731800	Weak transcription	NHDF-Ad	bronchial
32	chr11:19728400-19732200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:19728400-19732800	Weak transcription	HUVEC	blood vessel

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