Variant report

Variant	rs2274292
Chromosome Location	chr13:96295321-96295322
allele	C/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	MXI1	chr13:96294038-96297559	SK-N-SH	brain:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044

Variant related genes	Relation type
DZIP1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11618323	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12428035	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429254	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951334	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17879875	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3087341	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41277668	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv900934	chr13:96255706-96327574	Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3330095	chr13:96281000-96297421	Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2274292	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96284600-96295800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:96291600-96295800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:96293400-96295400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:96293400-96297400	Active TSS	Fetal Kidney	kidney
5	chr13:96293400-96297600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:96293600-96295800	Active TSS	Brain Angular Gyrus	brain
7	chr13:96293600-96297600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr13:96293800-96295400	Flanking Active TSS	HMEC	breast
9	chr13:96293800-96295600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr13:96293800-96295800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:96293800-96297800	Active TSS	Stomach Smooth Muscle	stomach
12	chr13:96294000-96295600	Active TSS	Brain Anterior Caudate	brain
13	chr13:96294000-96295800	Active TSS	Brain Cingulate Gyrus	brain
14	chr13:96294000-96296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:96294000-96296200	Active TSS	Pancreas	Pancrea
16	chr13:96294000-96297200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr13:96294000-96297400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:96294000-96297600	Active TSS	Ovary	ovary
19	chr13:96294000-96297600	Active TSS	NHLF	lung
20	chr13:96294200-96296000	Enhancers	Placenta	Placenta
21	chr13:96294400-96295400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr13:96294400-96295600	Flanking Active TSS	Osteobl	bone
23	chr13:96294400-96296000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:96294400-96296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:96294400-96296400	Flanking Active TSS	HUVEC	blood vessel
26	chr13:96294400-96297400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:96294600-96295600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:96294600-96295600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:96294600-96295600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr13:96294600-96295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:96294600-96295800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:96294600-96295800	Weak transcription	Aorta	Aorta
33	chr13:96294600-96295800	Enhancers	Fetal Heart	heart
34	chr13:96294600-96295800	Weak transcription	Psoas Muscle	Psoas
35	chr13:96294600-96295800	Weak transcription	Right Atrium	heart
36	chr13:96294600-96297400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:96294800-96295400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:96294800-96295400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:96294800-96295600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:96294800-96295600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr13:96294800-96295600	Active TSS	Fetal Brain Male	brain
42	chr13:96294800-96295600	Weak transcription	Left Ventricle	heart
43	chr13:96294800-96295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:96294800-96295800	Weak transcription	Right Ventricle	heart
45	chr13:96294800-96296000	Enhancers	Liver	Liver
46	chr13:96294800-96296000	Active TSS	Fetal Muscle Trunk	muscle
47	chr13:96294800-96296000	Weak transcription	Gastric	stomach
48	chr13:96294800-96296200	Flanking Active TSS	Fetal Brain Female	brain
49	chr13:96294800-96296400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr13:96295000-96295400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell

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