Variant report

Variant	rs1197891
Chromosome Location	chr13:96295631-96295632
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	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
2	MXI1	chr13:96295623-96297515	IMR90	lung:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
3	MXI1	chr13:96294038-96297559	SK-N-SH	brain:	n/a	chr13:96296951-96296966 chr13:96297033-96297042 chr13:96297035-96297044
4	POLR2A	chr13:96295416-96296105	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr13:96295412-96298024	SK-N-SH	brain:	n/a	chr13:96297734-96297748
6	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: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4272894	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[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

No data

Chromatin state (count:84 , 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	chr13:96293400-96297400	Active TSS	Fetal Kidney	kidney
4	chr13:96293400-96297600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:96293600-96295800	Active TSS	Brain Angular Gyrus	brain
6	chr13:96293600-96297600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr13:96293800-96295800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr13:96293800-96297800	Active TSS	Stomach Smooth Muscle	stomach
9	chr13:96294000-96295800	Active TSS	Brain Cingulate Gyrus	brain
10	chr13:96294000-96296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:96294000-96296200	Active TSS	Pancreas	Pancrea
12	chr13:96294000-96297200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr13:96294000-96297400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:96294000-96297600	Active TSS	Ovary	ovary
15	chr13:96294000-96297600	Active TSS	NHLF	lung
16	chr13:96294200-96296000	Enhancers	Placenta	Placenta
17	chr13:96294400-96296000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:96294400-96296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:96294400-96296400	Flanking Active TSS	HUVEC	blood vessel
20	chr13:96294400-96297400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:96294600-96295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:96294600-96295800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:96294600-96295800	Weak transcription	Aorta	Aorta
24	chr13:96294600-96295800	Enhancers	Fetal Heart	heart
25	chr13:96294600-96295800	Weak transcription	Psoas Muscle	Psoas
26	chr13:96294600-96295800	Weak transcription	Right Atrium	heart
27	chr13:96294600-96297400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:96294800-96295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:96294800-96295800	Weak transcription	Right Ventricle	heart
30	chr13:96294800-96296000	Enhancers	Liver	Liver
31	chr13:96294800-96296000	Active TSS	Fetal Muscle Trunk	muscle
32	chr13:96294800-96296000	Weak transcription	Gastric	stomach
33	chr13:96294800-96296200	Flanking Active TSS	Fetal Brain Female	brain
34	chr13:96294800-96296400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr13:96295000-96296000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:96295000-96296000	Flanking Active TSS	HepG2	liver
37	chr13:96295200-96295800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr13:96295200-96295800	Flanking Active TSS	HSMMtube	muscle
39	chr13:96295200-96296000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr13:96295200-96296000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:96295200-96296600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:96295200-96297000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:96295200-96297600	Bivalent/Poised TSS	Fetal Lung	lung
44	chr13:96295400-96295800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:96295400-96295800	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr13:96295400-96295800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr13:96295400-96295800	Active TSS	Fetal Stomach	stomach
48	chr13:96295400-96295800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr13:96295400-96296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr13:96295400-96296200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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