Variant report

Variant	rs73794763
Chromosome Location	chr5:146834203-146834204
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	POLR2A	chr5:146831385-146834433	H1-neurons	neurons:	n/a	n/a
2	TAF1	chr5:146831393-146834386	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr5:146834127-146834304	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr5:146830023-146834431	H1-hESC	embryonic stem cell:	n/a	chr5:146830863-146830871 chr5:146831631-146831640 chr5:146832804-146832817 chr5:146832651-146832660
5	RAD21	chr5:146832651-146834295	IMR90	lung:	n/a	chr5:146833600-146833613 chr5:146833598-146833612 chr5:146833597-146833616 chr5:146833602-146833612 chr5:146833701-146833711
6	POLR2A	chr5:146832467-146834365	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr5:146834134-146834317	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:146832978-146834487	HUVEC	blood vessel:	n/a	n/a
9	CHD1	chr5:146832499-146834412	H1-hESC	embryonic stem cell:	n/a	chr5:146833828-146833835 chr5:146833608-146833618
10	MXI1	chr5:146832178-146834895	IMR90	lung:	n/a	chr5:146834252-146834261 chr5:146832595-146832604
11	MXI1	chr5:146834007-146834336	H1-hESC	embryonic stem cell:	n/a	chr5:146834252-146834261
12	CTCF	chr5:146832259-146834408	SK-N-SH	brain:	n/a	chr5:146833598-146833619 chr5:146833596-146833614 chr5:146833599-146833608 chr5:146833599-146833612 chr5:146833599-146833612 chr5:146833601-146833611 chr5:146833597-146833613
13	CTCF	chr5:146834100-146834250	SAEC	small airway:	n/a	n/a
14	CTCF	chr5:146834199-146834255	Kidney_OC	kidney:	n/a	n/a
15	MYC	chr5:146834196-146834243	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:146832698-146834480	IMR90	lung:	n/a	n/a
17	YY1	chr5:146832953-146834330	H1-hESC	embryonic stem cell:	n/a	chr5:146833691-146833705 chr5:146833359-146833368 chr5:146833696-146833705 chr5:146833699-146833708 chr5:146833671-146833685 chr5:146833693-146833702 chr5:146833674-146833683 chr5:146833973-146833989 chr5:146833852-146833861 chr5:146833356-146833367 chr5:146833694-146833708 chr5:146833697-146833711
18	MAX	chr5:146833460-146834445	H1-hESC	embryonic stem cell:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
19	YY1	chr5:146832654-146834238	SK-N-SH	brain:	n/a	chr5:146833691-146833705 chr5:146833359-146833368 chr5:146833696-146833705 chr5:146833699-146833708 chr5:146833671-146833685 chr5:146833693-146833702 chr5:146833674-146833683 chr5:146833973-146833989 chr5:146833852-146833861 chr5:146833356-146833367 chr5:146833694-146833708 chr5:146833697-146833711
20	RAD21	chr5:146832310-146834433	SK-N-SH	brain:	n/a	chr5:146832631-146832641 chr5:146833600-146833613 chr5:146833598-146833612 chr5:146833597-146833616 chr5:146833602-146833612 chr5:146833701-146833711
21	POLR2A	chr5:146830647-146834463	H1-neurons	neurons:	n/a	n/a
22	ZNF263	chr5:146832495-146834385	HEK293-T-REx	kidney:	n/a	chr5:146833472-146833481
23	SMC3	chr5:146831189-146834582	SK-N-SH	brain:	n/a	chr5:146833602-146833612 chr5:146833598-146833612 chr5:146833701-146833711 chr5:146833598-146833605
24	MYC	chr5:146834145-146834383	H1-hESC	embryonic stem cell:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
25	MAX	chr5:146834017-146834462	H1-hESC	embryonic stem cell:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
26	KAP1	chr5:146833711-146834312	U2OS	brain:	n/a	n/a
27	REST	chr5:146829869-146834644	H1-neurons	neurons:	n/a	chr5:146832804-146832817 chr5:146832801-146832814 chr5:146832654-146832667 chr5:146830908-146830922 chr5:146832654-146832667 chr5:146833366-146833379 chr5:146830910-146830920 chr5:146833054-146833072
28	MAZ	chr5:146832398-146834408	IMR90	lung:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
29	MYC	chr5:146834110-146834287	MCF10A-Er-Src	breast:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
30	GTF2F1	chr5:146834073-146834261	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr5:146833505-146834301	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr5:146834029-146834449	H1-hESC	embryonic stem cell:	n/a	chr5:146834253-146834263 chr5:146834253-146834262 chr5:146834254-146834261 chr5:146834252-146834261 chr5:146834252-146834263
33	TAF7	chr5:146832933-146834288	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
DPYSL3	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12657083	0.83[AFR][1000 genomes]
rs12657176	0.81[AFR][1000 genomes]
rs17106743	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17106761	0.83[AFR][1000 genomes]
rs17106765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57782659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58633172	0.85[AFR][1000 genomes]
rs73794725	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794726	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716469	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146831000-146834400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:146831000-146835000	Active TSS	Aorta	Aorta
3	chr5:146831200-146835000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:146831200-146835400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:146831800-146834800	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:146831800-146835000	Active TSS	Right Atrium	heart
7	chr5:146831800-146835000	Active TSS	NHLF	lung
8	chr5:146832800-146834400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:146832800-146835200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:146833200-146834400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr5:146833200-146834400	Active TSS	Colonic Mucosa	Colon
12	chr5:146833600-146834400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr5:146833800-146834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:146833800-146834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:146833800-146834400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:146833800-146834400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:146833800-146834400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:146833800-146834400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:146833800-146834400	Flanking Active TSS	HMEC	breast
20	chr5:146833800-146834400	Flanking Active TSS	HUVEC	blood vessel
21	chr5:146833800-146834400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr5:146833800-146835000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:146833800-146835000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:146833800-146835400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr5:146834000-146834400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:146834000-146834400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:146834000-146834400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:146834000-146834400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:146834000-146834400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr5:146834000-146834400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr5:146834000-146834400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr5:146834000-146834400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr5:146834000-146834400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr5:146834000-146834400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr5:146834000-146834400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr5:146834000-146834400	Flanking Active TSS	Fetal Kidney	kidney
37	chr5:146834000-146834400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr5:146834000-146834400	Bivalent Enhancer	Fetal Thymus	thymus
39	chr5:146834000-146834400	Enhancers	Lung	lung
40	chr5:146834000-146834400	Enhancers	Pancreas	Pancrea
41	chr5:146834000-146834400	Flanking Active TSS	A549	lung
42	chr5:146834000-146834400	Flanking Active TSS	Osteobl	bone
43	chr5:146834000-146834600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:146834000-146835000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr5:146834000-146835000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:146834000-146835200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:146834000-146835200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:146834000-146835200	Flanking Active TSS	NH-A	brain
49	chr5:146834000-146835400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:146834000-146835400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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