Variant report

Variant	rs9866791
Chromosome Location	chr3:112709033-112709034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:112708934-112710486	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112708559..112710573-chr3:112736590..112739999,3	K562	blood:
2	chr3:112357488..112363507-chr3:112707947..112711649,7	K562	blood:
3	chr3:112358506..112363260-chr3:112706755..112711649,8	K562	blood:
4	chr3:112358478..112360877-chr3:112708365..112711089,3	MCF-7	breast:
5	chr3:112708671..112711453-chr3:112735992..112738475,2	K562	blood:
6	chr3:112708547..112711309-chr3:112736671..112738787,3	MCF-7	breast:

No data

Variant related genes	Relation type
GTPBP8	TF binding region
ENSG00000240057	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000163608	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10934211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1488189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1488190	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2272393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293560	0.92[ASN][1000 genomes]
rs2293562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306857	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3872610	0.92[ASN][1000 genomes]
rs3889123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4682451	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4682452	0.83[AFR][1000 genomes]
rs6438123	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6796453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7633507	0.92[ASN][1000 genomes]
rs9288967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9874803	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9866791	GTPBP8	cis	multi-tissue	Pritchard
rs9866791	GTPBP8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112702200-112709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:112702400-112709200	Weak transcription	GM12878-XiMat	blood
3	chr3:112703800-112709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:112703800-112709400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:112703800-112709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:112703800-112709400	Weak transcription	Gastric	stomach
7	chr3:112703800-112709400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:112704000-112709200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:112704000-112709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:112704000-112709200	Weak transcription	Fetal Heart	heart
11	chr3:112704000-112709400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:112704000-112709400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:112704000-112709400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:112704000-112709400	Weak transcription	Placenta	Placenta
15	chr3:112704000-112709400	Weak transcription	Fetal Thymus	thymus
16	chr3:112704000-112709400	Weak transcription	Psoas Muscle	Psoas
17	chr3:112704000-112709400	Weak transcription	Thymus	Thymus
18	chr3:112704200-112709200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:112704600-112709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:112706600-112709200	Weak transcription	Fetal Intestine Small	intestine
21	chr3:112706800-112709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:112707000-112709200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:112707000-112709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:112707000-112709200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:112707000-112709200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:112707000-112709400	Weak transcription	Pancreas	Pancrea
27	chr3:112707200-112709200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:112707200-112709200	Weak transcription	Fetal Intestine Large	intestine
29	chr3:112707200-112709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:112708800-112709200	Enhancers	Primary T cells from cord blood	blood
31	chr3:112708800-112709200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:112708800-112709200	Enhancers	Dnd41	blood
33	chr3:112708800-112709200	Enhancers	HepG2	liver
34	chr3:112708800-112709400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:112708800-112709400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:112709000-112709200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:112709000-112709200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:112709000-112709200	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:112709000-112709200	Flanking Active TSS	A549	lung
40	chr3:112709000-112709200	Enhancers	Hela-S3	cervix
41	chr3:112709000-112709200	Enhancers	HMEC	breast
42	chr3:112709000-112709200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr3:112709000-112709200	Enhancers	NHEK	skin
44	chr3:112709000-112709400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:112709000-112709600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:112709000-112710000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:112709000-112710800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:112709000-112711200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:112709000-112711600	Active TSS	K562	blood

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