Variant report

Variant	rs57720936
Chromosome Location	chr3:112735358-112735359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr3:112735197-112735391	HepG2	liver:	n/a	n/a
2	MAFK	chr3:112735253-112735448	IMR90	lung:	n/a	n/a
3	MAFK	chr3:112735207-112735474	HepG2	liver:	n/a	n/a
4	MAFK	chr3:112735195-112735444	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112708430..112712482-chr3:112732391..112735876,5	K562	blood:
2	chr3:112726403..112732813-chr3:112735056..112739637,9	MCF-7	breast:
3	chr3:112724911..112728726-chr3:112732157..112736052,4	K562	blood:
4	chr3:112708430..112711427-chr3:112732811..112735876,3	K562	blood:
5	chr3:112724378..112727049-chr3:112733822..112736411,3	K562	blood:
6	chr3:112279739..112282135-chr3:112735331..112738696,3	K562	blood:
7	chr3:112734558..112737437-chr3:112738094..112740859,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240057	TF binding region
C3orf17	TF binding region
ENSG00000240057	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000163608	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000163607	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10460813	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1110819	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488191	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1809629	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276769	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399434	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3872609	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983386	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984706	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57720936	GTPBP8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112710400-112737400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112711400-112736600	Weak transcription	Stomach Mucosa	stomach
3	chr3:112712200-112736800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:112712400-112736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:112712800-112736600	Weak transcription	Fetal Heart	heart
6	chr3:112714400-112736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:112715000-112735800	Strong transcription	Primary B cells from cord blood	blood
8	chr3:112715200-112736000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr3:112715600-112736600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:112715600-112736600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:112715800-112735800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr3:112715800-112736000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:112715800-112736200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:112715800-112736800	Strong transcription	Placenta	Placenta
15	chr3:112716000-112736000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:112716000-112736600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr3:112716200-112735800	Strong transcription	A549	lung
18	chr3:112716400-112735600	Strong transcription	Adipose Nuclei	Adipose
19	chr3:112716400-112736400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:112716400-112736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:112716800-112735800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:112716800-112736200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:112716800-112736400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:112716800-112736400	Strong transcription	NH-A	brain
25	chr3:112716800-112736600	Strong transcription	Osteobl	bone
26	chr3:112716800-112736800	Strong transcription	HSMM	muscle
27	chr3:112717000-112736400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:112717200-112736000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:112717200-112736200	Strong transcription	HMEC	breast
30	chr3:112718400-112736200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:112718600-112735800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:112720000-112736400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:112721400-112736400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:112721800-112736400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:112721800-112736600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:112721800-112737200	Weak transcription	Colonic Mucosa	Colon
37	chr3:112722000-112735800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:112722000-112736200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:112722000-112736200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:112722000-112736200	Weak transcription	Pancreas	Pancrea
41	chr3:112722000-112736400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:112722000-112737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:112722000-112737400	Weak transcription	Spleen	Spleen
44	chr3:112722000-112737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:112722000-112737600	Weak transcription	Gastric	stomach
46	chr3:112722200-112735800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr3:112722200-112736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:112722200-112737600	Weak transcription	Esophagus	oesophagus
49	chr3:112722600-112735400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:112722800-112737000	Weak transcription	Right Ventricle	heart

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