Variant report

Variant	rs4840563
Chromosome Location	chr8:11320152-11320153
allele	C/T
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: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2618484	0.94[ASN][1000 genomes]
rs2736318	0.94[ASN][1000 genomes]
rs28613753	0.94[ASN][1000 genomes]
rs35592057	1.00[ASN][1000 genomes]
rs35667120	0.94[ASN][1000 genomes]
rs4585709	0.88[ASN][1000 genomes]
rs4840564	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60532605	0.88[ASN][1000 genomes]
rs7844316	0.88[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4840563	PPP1R3B	cis	cerebellum	SCAN
rs4840563	FAM167A	cis	lymphoblastoid	seeQTL

Chromatin state (count:46 , 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	chr8:11315400-11323000	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:11315600-11321600	Weak transcription	Spleen	Spleen
8	chr8:11315600-11322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11315800-11320800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:11316000-11322800	Enhancers	GM12878-XiMat	blood
11	chr8:11316400-11323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:11317000-11323000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:11317200-11320800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:11317200-11322000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:11317200-11322000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:11317200-11322000	Weak transcription	Fetal Heart	heart
17	chr8:11317600-11321800	Enhancers	Brain Anterior Caudate	brain
18	chr8:11318000-11320200	Enhancers	Fetal Brain Male	brain
19	chr8:11318000-11321400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:11318600-11322400	Enhancers	Fetal Brain Female	brain
21	chr8:11318800-11321400	Weak transcription	Fetal Kidney	kidney
22	chr8:11318800-11322000	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:11319000-11322400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:11319200-11320800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr8:11319200-11321000	Weak transcription	Fetal Thymus	thymus
26	chr8:11319200-11321200	Strong transcription	NHEK	skin
27	chr8:11319200-11322800	Weak transcription	A549	lung
28	chr8:11319400-11320200	Enhancers	Colonic Mucosa	Colon
29	chr8:11319400-11321600	Weak transcription	Osteobl	bone
30	chr8:11319400-11323000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:11319400-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:11319400-11323600	Enhancers	Gastric	stomach
33	chr8:11319600-11320800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:11319600-11321800	Weak transcription	Fetal Lung	lung
35	chr8:11319800-11320200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:11319800-11320200	Genic enhancers	Brain Substantia Nigra	brain
37	chr8:11319800-11320800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:11319800-11321000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11319800-11321200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:11319800-11321600	Weak transcription	Brain Angular Gyrus	brain
41	chr8:11319800-11321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:11319800-11322800	Weak transcription	HSMM	muscle
43	chr8:11320000-11320200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:11320000-11323200	Enhancers	Lung	lung
45	chr8:11320000-11323400	Enhancers	Pancreas	Pancrea
46	chr8:11320000-11323800	Enhancers	Liver	Liver

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