Variant report

Variant	rs4682452
Chromosome Location	chr3:112739172-112739173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:112736597-112739325	SK-N-SH	brain:	n/a	n/a
2	MYC	chr3:112737773-112739493	A549	lung:	n/a	chr3:112738310-112738320
3	JUND	chr3:112739121-112739280	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr3:112737244-112739184	H1-neurons	neurons:	n/a	chr3:112738589-112738602
5	MXI1	chr3:112737472-112739995	IMR90	lung:	n/a	n/a
6	HCFC1	chr3:112736957-112739914	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr3:112737579-112739392	IMR90	lung:	n/a	chr3:112738310-112738320
8	IRF3	chr3:112739165-112739190	GM12878	blood:	n/a	n/a
9	E2F6	chr3:112738033-112739262	H1-hESC	embryonic stem cell:	n/a	chr3:112738607-112738617
10	MTA3	chr3:112737172-112739173	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112726403..112732813-chr3:112735056..112739637,9	MCF-7	breast:
2	chr3:112358697..112360499-chr3:112735766..112739410,3	MCF-7	breast:
3	chr3:112727442..112729984-chr3:112737783..112739677,2	MCF-7	breast:
4	chr3:112730174..112733803-chr3:112737181..112739606,5	MCF-7	breast:
5	chr3:112739028..112741013-chr3:112741247..112744178,2	MCF-7	breast:
6	chr3:112358680..112360592-chr3:112737016..112739347,2	MCF-7	breast:
7	chr3:112737944..112740909-chr3:112760087..112762982,2	MCF-7	breast:
8	chr3:112708559..112710573-chr3:112736590..112739999,3	K562	blood:

No data

Variant related genes	Relation type
C3orf17	TF binding region
ENSG00000272844	Chromatin interaction
ENSG00000163608	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000243483	Chromatin interaction

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

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

rs_ID	r²[population]
rs10934211	0.95[LWK][hapmap];0.86[MKK][hapmap];0.92[YRI][hapmap]
rs1488189	1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2272393	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2293562	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs33940464	0.83[YRI][hapmap]
rs3889123	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6796453	0.83[AFR][1000 genomes]
rs9288967	1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9866791	0.83[AFR][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
rs4682452	GTPBP8	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112737000-112739200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:112737000-112739200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:112737000-112739200	Active TSS	Fetal Muscle Trunk	muscle
4	chr3:112737200-112739200	Active TSS	Right Atrium	heart
5	chr3:112737200-112739200	Active TSS	A549	lung
6	chr3:112737200-112739200	Active TSS	HSMM	muscle
7	chr3:112737400-112739200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr3:112737400-112739200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:112737400-112739200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:112737400-112739200	Active TSS	Fetal Brain Male	brain
11	chr3:112737800-112739200	Active TSS	NH-A	brain
12	chr3:112737800-112739400	Active TSS	Brain Germinal Matrix	brain
13	chr3:112738000-112739200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:112738000-112739200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:112738400-112739200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr3:112738400-112739200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr3:112738600-112739200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:112738600-112739200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr3:112738600-112739200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr3:112738600-112739200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:112738600-112739200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr3:112738600-112739200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:112738600-112739200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:112738600-112739200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr3:112738600-112739200	Flanking Active TSS	Fetal Thymus	thymus
26	chr3:112738600-112739200	Flanking Active TSS	Hela-S3	cervix
27	chr3:112738600-112739200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr3:112738600-112739200	Flanking Active TSS	NHEK	skin
29	chr3:112738600-112739400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr3:112738600-112739600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr3:112738600-112739600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:112738600-112739800	Flanking Active TSS	Dnd41	blood
33	chr3:112738800-112739200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:112738800-112739200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:112738800-112739200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr3:112738800-112739200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:112738800-112739200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:112738800-112739200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr3:112738800-112739200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr3:112738800-112739200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr3:112738800-112739200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr3:112738800-112739200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr3:112738800-112739200	Flanking Active TSS	Fetal Heart	heart
44	chr3:112738800-112739200	Flanking Active TSS	Fetal Kidney	kidney
45	chr3:112738800-112739200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:112738800-112739200	Flanking Active TSS	Fetal Lung	lung
47	chr3:112738800-112739200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr3:112738800-112739200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr3:112738800-112739200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr3:112738800-112739200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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