Variant report

Variant	rs983386
Chromosome Location	chr3:112702124-112702125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112696246..112698105-chr3:112700823..112702543,2	MCF-7	breast:
2	chr3:112701295..112706602-chr3:112706876..112710741,6	MCF-7	breast:
3	chr3:112358922..112361345-chr3:112701862..112703663,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163607	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000272844	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	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1110819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1488191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1809629	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276769	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2399434	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3872609	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57720936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984706	0.85[AMR][1000 genomes];0.98[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
rs983386	GTPBP8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112698200-112703200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:112699400-112703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:112700800-112702800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:112700800-112705000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:112701000-112704600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:112701000-112707400	Enhancers	Primary T cells from cord blood	blood
7	chr3:112701200-112702400	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:112701200-112704000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:112701200-112704600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:112701400-112703200	Enhancers	Primary B cells from cord blood	blood
11	chr3:112701400-112705000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:112701600-112702200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:112701600-112702400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:112701600-112702400	Enhancers	GM12878-XiMat	blood
15	chr3:112701600-112703800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:112701600-112704400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:112701800-112702200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:112701800-112702400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:112701800-112703800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:112701800-112704000	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:112701800-112704400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr3:112702000-112702200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:112702000-112702400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:112702000-112702400	Enhancers	Fetal Thymus	thymus
25	chr3:112702000-112704000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr3:112702000-112704000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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