Variant report

Variant	rs57847564
Chromosome Location	chr3:133540479-133540480
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133539699..133541216-chr3:133545754..133547424,2	K562	blood:
2	chr3:133539509..133541606-chr3:133612325..133615169,2	K562	blood:
3	chr3:133536905..133538476-chr3:133539305..133541254,2	MCF-7	breast:
4	chr3:133354066..133356329-chr3:133540226..133542880,2	MCF-7	breast:
5	chr3:133178497..133180168-chr3:133538134..133540708,2	MCF-7	breast:
6	chr3:133533757..133536015-chr3:133537201..133540775,3	MCF-7	breast:
7	chr3:133540442..133541444-chr3:133550992..133551746,3	MCF-7	breast:
8	chr3:133536393..133538407-chr3:133540406..133542123,3	K562	blood:
9	chr3:133533795..133535800-chr3:133538596..133541212,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11710936	1.00[ASN][1000 genomes]
rs12490148	0.80[ASN][1000 genomes]
rs12637730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1534165	0.91[ASN][1000 genomes]
rs2293373	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2293374	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2293375	0.97[ASN][1000 genomes]
rs58851383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773354	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6786236	0.93[ASN][1000 genomes]
rs73217233	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626433	0.87[AMR][1000 genomes];0.94[EUR][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS 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 target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs57847564	SRPRB	cis	multi-tissue	Pritchard
rs57847564	SRPRB	Cis_1M	lymphoblastoid	RTeQTL
rs57847564	SRPRB	cis	brain	BrainEAC

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133525600-133541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:133525800-133541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:133526200-133540600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:133526200-133543400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:133526400-133543800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:133526400-133544000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:133526400-133544000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:133526600-133543400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:133526600-133544800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr3:133526600-133544800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:133526800-133542000	Strong transcription	NH-A	brain
12	chr3:133526800-133544000	Strong transcription	Liver	Liver
13	chr3:133526800-133544800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr3:133527000-133541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:133527000-133545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:133527200-133545000	Strong transcription	Dnd41	blood
17	chr3:133528000-133543400	Strong transcription	Fetal Thymus	thymus
18	chr3:133529200-133545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:133529400-133540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:133532200-133541800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:133533600-133543000	Strong transcription	Fetal Lung	lung
22	chr3:133533600-133543400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:133533600-133543600	Strong transcription	Fetal Intestine Large	intestine
24	chr3:133533600-133545000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:133533600-133546200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr3:133533800-133543200	Strong transcription	K562	blood
27	chr3:133534000-133543000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:133536400-133543600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:133536800-133540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:133537400-133545600	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:133537600-133541200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:133537800-133544800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:133538000-133541200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:133538000-133541400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:133538000-133543800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr3:133538000-133544800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:133538200-133541000	Strong transcription	A549	lung
38	chr3:133538200-133541200	Genic enhancers	NHEK	skin
39	chr3:133538200-133542800	Strong transcription	GM12878-XiMat	blood
40	chr3:133538200-133543800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:133538200-133544000	Strong transcription	Lung	lung
42	chr3:133538200-133544200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr3:133538200-133544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:133538200-133544600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr3:133538200-133544600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:133538200-133544600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:133538400-133540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:133538400-133540600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:133538400-133541000	Strong transcription	Brain Angular Gyrus	brain
50	chr3:133538400-133541200	Strong transcription	HSMMtube	muscle

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