Variant report

Variant	rs1488191
Chromosome Location	chr3:112706125-112706126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112706094..112708028-chr3:112737320..112740149,2	MCF-7	breast:
2	chr3:112701295..112706602-chr3:112706876..112710741,6	MCF-7	breast:
3	chr3:112704580..112707278-chr3:112708668..112710662,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000163608	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000240057	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	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1110819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1809629	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276769	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2399434	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3872609	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57720936	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs983386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs984706	0.85[AMR][1000 genomes];0.99[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
rs1488191	GTPBP8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112701000-112707400	Enhancers	Primary T cells from cord blood	blood
2	chr3:112702200-112709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:112702400-112709000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:112702400-112709200	Weak transcription	GM12878-XiMat	blood
5	chr3:112703800-112709000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:112703800-112709000	Weak transcription	A549	lung
7	chr3:112703800-112709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:112703800-112709400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:112703800-112709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:112703800-112709400	Weak transcription	Gastric	stomach
11	chr3:112703800-112709400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:112704000-112706200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr3:112704000-112708800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:112704000-112709200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:112704000-112709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:112704000-112709200	Weak transcription	Fetal Heart	heart
17	chr3:112704000-112709400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:112704000-112709400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:112704000-112709400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:112704000-112709400	Weak transcription	Placenta	Placenta
21	chr3:112704000-112709400	Weak transcription	Fetal Thymus	thymus
22	chr3:112704000-112709400	Weak transcription	Psoas Muscle	Psoas
23	chr3:112704000-112709400	Weak transcription	Thymus	Thymus
24	chr3:112704200-112709200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:112704600-112709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:112705400-112707200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:112705600-112706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:112705600-112706800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:112705800-112706600	Enhancers	Fetal Intestine Small	intestine
30	chr3:112705800-112707000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:112705800-112707000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr3:112706000-112706200	Enhancers	K562	blood
33	chr3:112706000-112707000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:112706000-112707000	Enhancers	Pancreas	Pancrea
35	chr3:112706000-112707200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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