Variant report

Variant	rs41277668
Chromosome Location	chr13:96295824-96295825
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	MAX	chr13:96295733-96297333	H1-hESC	embryonic stem cell:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
2	MAX	chr13:96295710-96296593	SK-N-SH	brain:	n/a	chr13:96296387-96296396
3	MAZ	chr13:96295452-96297528	IMR90	lung:	n/a	chr13:96297462-96297473 chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96297463-96297470 chr13:96296387-96296396 chr13:96297462-96297471 chr13:96297034-96297043 chr13:96297035-96297044
4	MAX	chr13:96295692-96297485	HepG2	liver:	n/a	chr13:96297462-96297473 chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96297463-96297470 chr13:96296387-96296396 chr13:96297462-96297471 chr13:96297034-96297043 chr13:96297035-96297044
5	CTBP2	chr13:96295809-96296699	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:96295771-96296569	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFF	chr13:96295809-96296151	HepG2	liver:	n/a	chr13:96295983-96296001
8	POLR2A	chr13:96295746-96296552	PFSK-1	brain:	n/a	n/a
9	MAFK	chr13:96295814-96296149	HepG2	liver:	n/a	chr13:96295985-96296000
10	MAX	chr13:96295785-96297576	HepG2	liver:	n/a	chr13:96297462-96297473 chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96297463-96297470 chr13:96296387-96296396 chr13:96297462-96297471 chr13:96297034-96297043 chr13:96297035-96297044
11	E2F6	chr13:96295786-96297432	H1-hESC	embryonic stem cell:	n/a	chr13:96297046-96297055 chr13:96296158-96296167
12	POLR2A	chr13:96295760-96297571	HepG2	liver:	n/a	n/a
13	YY1	chr13:96295814-96297077	SK-N-SH	brain:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296489-96296500 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
14	POLR2A	chr13:96295705-96297327	HepG2	liver:	n/a	n/a
15	MAX	chr13:96295794-96297454	A549	lung:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
16	POLR2A	chr13:96295672-96297419	HUVEC	blood vessel:	n/a	n/a
17	MXI1	chr13:96295623-96297515	IMR90	lung:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
18	POLR2A	chr13:96295806-96297291	H1-hESC	embryonic stem cell:	n/a	n/a
19	MXI1	chr13:96294038-96297559	SK-N-SH	brain:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
20	MAX	chr13:96295774-96297300	H1-hESC	embryonic stem cell:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
21	POLR2A	chr13:96295416-96296105	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFK	chr13:96295779-96296179	IMR90	lung:	n/a	chr13:96295985-96296000
23	POLR2A	chr13:96295781-96296007	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr13:96295817-96297228	HUVEC	blood vessel:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
25	RFX5	chr13:96295412-96298024	SK-N-SH	brain:	n/a	chr13:96297734-96297748
26	POLR2A	chr13:96295781-96297308	HEK293	kidney:	n/a	n/a
27	MAX	chr13:96295758-96297350	SK-N-SH	brain:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
28	POLR2A	chr13:96295555-96297516	H1-hESC	embryonic stem cell:	n/a	n/a

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	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12428035	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429254	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951334	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17879875	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2274292	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087341	0.86[EUR][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
rs41277668	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96293400-96297400	Active TSS	Fetal Kidney	kidney
2	chr13:96293400-96297600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:96293600-96297600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr13:96293800-96297800	Active TSS	Stomach Smooth Muscle	stomach
5	chr13:96294000-96296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:96294000-96296200	Active TSS	Pancreas	Pancrea
7	chr13:96294000-96297200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr13:96294000-96297400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:96294000-96297600	Active TSS	Ovary	ovary
10	chr13:96294000-96297600	Active TSS	NHLF	lung
11	chr13:96294200-96296000	Enhancers	Placenta	Placenta
12	chr13:96294400-96296000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:96294400-96296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:96294400-96296400	Flanking Active TSS	HUVEC	blood vessel
15	chr13:96294400-96297400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:96294600-96297400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:96294800-96296000	Enhancers	Liver	Liver
18	chr13:96294800-96296000	Active TSS	Fetal Muscle Trunk	muscle
19	chr13:96294800-96296000	Weak transcription	Gastric	stomach
20	chr13:96294800-96296200	Flanking Active TSS	Fetal Brain Female	brain
21	chr13:96294800-96296400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr13:96295000-96296000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:96295000-96296000	Flanking Active TSS	HepG2	liver
24	chr13:96295200-96296000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr13:96295200-96296000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:96295200-96296600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:96295200-96297000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:96295200-96297600	Bivalent/Poised TSS	Fetal Lung	lung
29	chr13:96295400-96296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr13:96295400-96296200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:96295400-96297200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:96295400-96297600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:96295400-96297600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:96295400-96297600	Active TSS	NHDF-Ad	bronchial
35	chr13:96295600-96296000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:96295600-96296000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr13:96295600-96296000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:96295600-96296000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr13:96295600-96296000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:96295600-96296000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr13:96295600-96296000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr13:96295600-96296000	Flanking Active TSS	NH-A	brain
43	chr13:96295600-96296200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr13:96295600-96296200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr13:96295600-96296200	Active TSS	Brain Germinal Matrix	brain
46	chr13:96295600-96296200	Flanking Active TSS	Fetal Brain Male	brain
47	chr13:96295600-96296800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr13:96295600-96297000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr13:96295600-96297200	Active TSS	Osteobl	bone
50	chr13:96295600-96297400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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