Variant report

Variant	rs11217462
Chromosome Location	chr11:119622613-119622614
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	chr11:119622344..119624091-chr11:119630061..119631916,2	K562	blood:
2	chr11:119621036..119623872-chr11:119625364..119628565,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10892449	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11217451	0.94[EUR][1000 genomes]
rs11217470	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11217472	0.94[EUR][1000 genomes]
rs60727471	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7128327	0.94[EUR][1000 genomes]
rs7940298	0.89[EUR][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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:119613600-119636000	Weak transcription	Right Atrium	heart
2	chr11:119613800-119625400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119614400-119625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119614400-119628200	Weak transcription	Gastric	stomach
5	chr11:119619400-119623200	Weak transcription	Fetal Heart	heart
6	chr11:119619800-119622800	Weak transcription	HMEC	breast
7	chr11:119620400-119623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:119621000-119622800	Weak transcription	Pancreas	Pancrea
9	chr11:119621000-119623000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:119621400-119624600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:119622000-119623000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:119622000-119623200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:119622000-119623200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:119622000-119623200	Flanking Active TSS	GM12878-XiMat	blood
15	chr11:119622000-119623600	Enhancers	Primary B cells from cord blood	blood
16	chr11:119622000-119623800	Enhancers	NHEK	skin
17	chr11:119622000-119629200	Enhancers	Brain Germinal Matrix	brain
18	chr11:119622200-119622800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr11:119622200-119622800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:119622200-119622800	Enhancers	Fetal Thymus	thymus
21	chr11:119622200-119623000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:119622200-119623200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:119622200-119623200	Enhancers	Stomach Mucosa	stomach
24	chr11:119622200-119624000	Enhancers	Esophagus	oesophagus
25	chr11:119622200-119624200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:119622200-119626200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:119622400-119626800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr11:119622600-119622800	Enhancers	Brain Angular Gyrus	brain
29	chr11:119622600-119623000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:119622600-119623600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:119622600-119624600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:119622600-119624600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:119622600-119625600	Enhancers	HSMMtube	muscle

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