Variant report

Variant	rs58573983
Chromosome Location	chr8:11279954-11279955
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11278797..11280380-chr8:11316966..11319071,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLK-2	chr8:11279007-11280419	NONHSAT125057

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73536174	1.00[EUR][1000 genomes]
rs73540421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
3	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:11273000-11287000	Weak transcription	NHEK	skin
5	chr8:11274000-11281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11274600-11281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11275600-11282200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:11275800-11280400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:11275800-11280600	Enhancers	Primary B cells from cord blood	blood
10	chr8:11275800-11281400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:11276200-11280200	Weak transcription	Spleen	Spleen
12	chr8:11276200-11280600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11276200-11280600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:11276400-11280000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:11276600-11280200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:11276600-11280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:11276600-11281200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11276600-11291200	Weak transcription	Gastric	stomach
19	chr8:11277600-11287000	Enhancers	Fetal Thymus	thymus
20	chr8:11278200-11280000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11278400-11280200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:11278800-11280600	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:11279000-11280400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:11279000-11280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:11279000-11280600	Enhancers	Osteobl	bone
26	chr8:11279000-11280800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:11279000-11281000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:11279000-11281400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:11279000-11281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:11279000-11282600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11279200-11280000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:11279200-11280000	Enhancers	NH-A	brain
33	chr8:11279200-11280000	Enhancers	NHDF-Ad	bronchial
34	chr8:11279200-11280400	Enhancers	HSMMtube	muscle
35	chr8:11279400-11280600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:11279400-11281000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:11279600-11280400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:11279800-11280000	Enhancers	Thymus	Thymus
40	chr8:11279800-11280200	Genic enhancers	Brain Cingulate Gyrus	brain
41	chr8:11279800-11280400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:11279800-11280400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:11279800-11281000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:11279800-11281600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:11279800-11281600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--

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