Variant report

Variant	rs1646267
Chromosome Location	chr16:58766187-58766188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr16:58766099-58767314	GM12878	blood:	n/a	chr16:58766612-58766623 chr16:58766614-58766623

No.	Distal block	Cell Line	Cell type
1	chr16:58742292..58743873-chr16:58764921..58766535,2	K562	blood:
2	chr16:58521363..58523239-chr16:58765516..58767587,2	K562	blood:
3	chr16:58763681..58765319-chr16:58765617..58767662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245768	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1058192	0.81[EUR][1000 genomes]
rs14221	0.85[EUR][1000 genomes]
rs171786	0.85[EUR][1000 genomes]
rs173992	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183757	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs185397	0.85[EUR][1000 genomes]
rs187277	0.85[EUR][1000 genomes]
rs190473	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs257616	0.85[EUR][1000 genomes]
rs257617	0.85[EUR][1000 genomes]
rs257618	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs257619	0.85[EUR][1000 genomes]
rs257621	0.85[EUR][1000 genomes]
rs257630	0.90[EUR][1000 genomes]
rs257631	0.85[EUR][1000 genomes]
rs257632	0.85[EUR][1000 genomes]
rs257633	0.85[EUR][1000 genomes]
rs257634	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs257636	0.80[EUR][1000 genomes]
rs257637	0.85[EUR][1000 genomes]
rs257638	0.81[EUR][1000 genomes]
rs30835	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs30839	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6993	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs863944	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1646267	GOT2	cis	Thyroid	GTEx
rs1646267	GOT2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
2	chr16:58747800-58767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:58752600-58766600	Weak transcription	NHLF	lung
4	chr16:58753200-58766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:58753200-58766600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:58753200-58766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:58753400-58766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:58754000-58766800	Weak transcription	Esophagus	oesophagus
9	chr16:58755200-58766800	Weak transcription	Fetal Lung	lung
10	chr16:58755400-58766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:58755600-58766400	Weak transcription	Fetal Brain Male	brain
12	chr16:58756200-58766800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:58756200-58766800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:58756200-58766800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:58756400-58766400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:58757000-58766200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:58757000-58766600	Weak transcription	Colonic Mucosa	Colon
18	chr16:58757000-58767400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:58757200-58766600	Weak transcription	Brain Germinal Matrix	brain
20	chr16:58757400-58766200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:58757600-58766200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:58757600-58766200	Weak transcription	A549	lung
23	chr16:58757600-58766200	Weak transcription	NH-A	brain
24	chr16:58757600-58766600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:58757600-58766600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:58757600-58767000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:58757800-58766200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:58757800-58766200	Weak transcription	NHDF-Ad	bronchial
29	chr16:58757800-58766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:58757800-58766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:58757800-58766600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:58757800-58766600	Weak transcription	Thymus	Thymus
33	chr16:58757800-58766600	Weak transcription	HSMM	muscle
34	chr16:58757800-58766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:58757800-58766800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:58757800-58766800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:58757800-58766800	Weak transcription	Adipose Nuclei	Adipose
38	chr16:58757800-58766800	Weak transcription	Placenta	Placenta
39	chr16:58757800-58766800	Weak transcription	HSMMtube	muscle
40	chr16:58757800-58766800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:58757800-58767000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:58758000-58766400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:58758000-58766600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:58758000-58766800	Weak transcription	Aorta	Aorta
45	chr16:58758000-58766800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr16:58758000-58767000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:58758200-58766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr16:58758400-58766200	Weak transcription	Osteobl	bone
49	chr16:58758400-58766800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr16:58758800-58766800	Weak transcription	H9 Cell Line	embryonic stem cell

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