Variant report

Variant	rs1886854
Chromosome Location	chr13:96296136-96296137
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	TBP	chr13:96295847-96297297	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr13:96295710-96296593	SK-N-SH	brain:	n/a	chr13:96296387-96296396
4	GABPA	chr13:96296117-96296516	A549	lung:	n/a	n/a
5	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
6	POLR2A	chr13:96296058-96296497	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr13:96296124-96296391	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	YY1	chr13:96296084-96296490	H1-hESC	embryonic stem cell:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
10	YY1	chr13:96295921-96296648	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
11	POLR2A	chr13:96295955-96296326	SK-N-SH	brain:	n/a	n/a
12	CTBP2	chr13:96295809-96296699	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr13:96296079-96296400	HepG2	liver:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
14	POLR2A	chr13:96295771-96296569	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr13:96295983-96297372	H1-neurons	neurons:	n/a	chr13:96296052-96296062 chr13:96296534-96296547 chr13:96296483-96296496
16	HDAC2	chr13:96296089-96296435	HepG2	liver:	n/a	n/a
17	MAFK	chr13:96295830-96296173	HepG2	liver:	n/a	chr13:96295985-96296000
18	MAFF	chr13:96295809-96296151	HepG2	liver:	n/a	chr13:96295983-96296001
19	POLR2A	chr13:96296111-96296439	A549	lung:	n/a	n/a
20	MXI1	chr13:96296026-96297229	HepG2	liver:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
21	POLR2A	chr13:96296065-96297262	ProgFib	skin:	n/a	n/a
22	POLR2A	chr13:96295746-96296552	PFSK-1	brain:	n/a	n/a
23	CHD1	chr13:96296008-96296219	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFK	chr13:96295814-96296149	HepG2	liver:	n/a	chr13:96295985-96296000
25	YY1	chr13:96296014-96296523	SK-N-SH_RA	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
26	YY1	chr13:96296134-96296453	GM12878	blood:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
27	POLR2A	chr13:96296090-96297157	H1-neurons	neurons:	n/a	n/a
28	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
29	E2F6	chr13:96295786-96297432	H1-hESC	embryonic stem cell:	n/a	chr13:96297046-96297055 chr13:96296158-96296167
30	POLR2A	chr13:96295760-96297571	HepG2	liver:	n/a	n/a
31	MAX	chr13:96295833-96296549	H1-hESC	embryonic stem cell:	n/a	chr13:96296387-96296396
32	MAX	chr13:96296047-96296667	A549	lung:	n/a	chr13:96296387-96296396
33	MAX	chr13:96296083-96297344	HepG2	liver:	n/a	chr13:96297033-96297044 chr13:96297033-96297043 chr13:96297033-96297044 chr13:96297032-96297045 chr13:96296387-96296396 chr13:96297034-96297043 chr13:96297035-96297044
34	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
35	YY1	chr13:96296012-96296547	HepG2	liver:	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
36	YY1	chr13:96296104-96296401	A549	lung:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
37	POLR2A	chr13:96295705-96297327	HepG2	liver:	n/a	n/a
38	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
39	POLR2A	chr13:96295672-96297419	HUVEC	blood vessel:	n/a	n/a
40	CREB1	chr13:96296109-96296419	A549	lung:	n/a	n/a
41	POLR2A	chr13:96296001-96297338	HUVEC	blood vessel:	n/a	n/a
42	YY1	chr13:96296052-96296484	A549	lung:	n/a	chr13:96296286-96296298 chr13:96296288-96296298 chr13:96296281-96296300 chr13:96296289-96296297 chr13:96296349-96296363 chr13:96296287-96296295 chr13:96296276-96296298
43	MXI1	chr13:96295623-96297515	IMR90	lung:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
44	POLR2A	chr13:96295806-96297291	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr13:96294038-96297559	SK-N-SH	brain:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
46	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
47	BACH1	chr13:96296108-96296371	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr13:96295905-96296693	A549	lung:	n/a	chr13:96296158-96296167
49	POLR2A	chr13:96295910-96297269	A549	lung:	n/a	n/a
50	MAFK	chr13:96295779-96296179	IMR90	lung:	n/a	chr13:96295985-96296000

Variant related genes	Relation type
DZIP1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1408607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4773923	1.00[AFR][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

No data

Chromatin state (count:113 , 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	chr13:96294000-96296200	Active TSS	Pancreas	Pancrea
6	chr13:96294000-96297200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr13:96294000-96297400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:96294000-96297600	Active TSS	Ovary	ovary
9	chr13:96294000-96297600	Active TSS	NHLF	lung
10	chr13:96294400-96296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:96294400-96296400	Flanking Active TSS	HUVEC	blood vessel
12	chr13:96294400-96297400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:96294600-96297400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:96294800-96296200	Flanking Active TSS	Fetal Brain Female	brain
15	chr13:96294800-96296400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr13:96295200-96296600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:96295200-96297000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:96295200-96297600	Bivalent/Poised TSS	Fetal Lung	lung
19	chr13:96295400-96296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:96295400-96296200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:96295400-96297200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:96295400-96297600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:96295400-96297600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:96295400-96297600	Active TSS	NHDF-Ad	bronchial
25	chr13:96295600-96296200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr13:96295600-96296200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr13:96295600-96296200	Active TSS	Brain Germinal Matrix	brain
28	chr13:96295600-96296200	Flanking Active TSS	Fetal Brain Male	brain
29	chr13:96295600-96296800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr13:96295600-96297000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:96295600-96297200	Active TSS	Osteobl	bone
32	chr13:96295600-96297400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:96295600-96297400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:96295600-96297600	Active TSS	Muscle Satellite Cultured Cells	--
35	chr13:96295600-96297600	Active TSS	A549	lung
36	chr13:96295600-96297600	Active TSS	GM12878-XiMat	blood
37	chr13:96295800-96296200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:96295800-96296200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr13:96295800-96296200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr13:96295800-96296200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr13:96295800-96296200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr13:96295800-96296200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr13:96295800-96296200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
44	chr13:96295800-96296200	Flanking Active TSS	Fetal Heart	heart
45	chr13:96295800-96296200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr13:96295800-96296200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr13:96295800-96296200	Flanking Active TSS	Left Ventricle	heart
48	chr13:96295800-96296200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr13:96295800-96296200	Bivalent Enhancer	Spleen	Spleen
50	chr13:96295800-96296400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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