Variant report

Variant	rs73533631
Chromosome Location	chr8:11319951-11319952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
2	chr8:11319006..11321957-chr8:11323524..11325949,2	MCF-7	breast:
3	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
4	chr8:11159367..11162691-chr8:11316510..11321033,4	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11997701	1.00[EUR][1000 genomes]
rs11998211	1.00[EUR][1000 genomes]
rs17153171	1.00[EUR][1000 genomes]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57586616	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs7012288	1.00[EUR][1000 genomes]
rs73530698	1.00[EUR][1000 genomes]
rs73533635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs73663108	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription 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	4 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	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
3	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
4	chr8:11313600-11320200	Enhancers	Brain Hippocampus Middle	brain
5	chr8:11314200-11323200	Weak transcription	Right Atrium	heart
6	chr8:11315400-11320000	Weak transcription	Pancreas	Pancrea
7	chr8:11315400-11323000	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:11315600-11321600	Weak transcription	Spleen	Spleen
9	chr8:11315600-11322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11315800-11320800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:11316000-11320000	Weak transcription	Liver	Liver
12	chr8:11316000-11322800	Enhancers	GM12878-XiMat	blood
13	chr8:11316400-11323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:11317000-11323000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:11317200-11320800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:11317200-11322000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:11317200-11322000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:11317200-11322000	Weak transcription	Fetal Heart	heart
19	chr8:11317600-11321800	Enhancers	Brain Anterior Caudate	brain
20	chr8:11318000-11320200	Enhancers	Fetal Brain Male	brain
21	chr8:11318000-11321400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:11318600-11322400	Enhancers	Fetal Brain Female	brain
23	chr8:11318800-11321400	Weak transcription	Fetal Kidney	kidney
24	chr8:11318800-11322000	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:11319000-11322400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:11319200-11320800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:11319200-11321000	Weak transcription	Fetal Thymus	thymus
28	chr8:11319200-11321200	Strong transcription	NHEK	skin
29	chr8:11319200-11322800	Weak transcription	A549	lung
30	chr8:11319400-11320200	Enhancers	Colonic Mucosa	Colon
31	chr8:11319400-11321600	Weak transcription	Osteobl	bone
32	chr8:11319400-11323000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:11319400-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:11319400-11323600	Enhancers	Gastric	stomach
35	chr8:11319600-11320800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:11319600-11321800	Weak transcription	Fetal Lung	lung
37	chr8:11319800-11320000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:11319800-11320200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:11319800-11320200	Genic enhancers	Brain Substantia Nigra	brain
40	chr8:11319800-11320800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:11319800-11321000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:11319800-11321200	Weak transcription	Brain Germinal Matrix	brain
43	chr8:11319800-11321600	Weak transcription	Brain Angular Gyrus	brain
44	chr8:11319800-11321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:11319800-11322800	Weak transcription	HSMM	muscle

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