Variant report

Variant	rs72865716
Chromosome Location	chr3:42742638-42742639
allele	A/G
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	REST	chr3:42742575-42743626	MCF-7	breast:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
2	REST	chr3:42742554-42743609	GM12878	blood:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
3	REST	chr3:42742529-42742700	SK-N-SH	brain:	n/a	n/a
4	REST	chr3:42742581-42743686	A549	lung:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
5	REST	chr3:42742608-42743688	PFSK-1	brain:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
6	REST	chr3:42742434-42743712	PFSK-1	brain:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
7	REST	chr3:42742584-42742719	K562	blood:	n/a	n/a
8	REST	chr3:42742604-42744067	ECC-1	luminal epithelium:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126 chr3:42743855-42743863
9	REST	chr3:42742615-42743816	HL-60	blood:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
10	REST	chr3:42742542-42743946	U87	brain:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126 chr3:42743855-42743863
11	REST	chr3:42742575-42743854	K562	blood:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
12	REST	chr3:42742599-42743747	GM12878	blood:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
13	REST	chr3:42741988-42744125	HL-60	blood:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126 chr3:42743855-42743863
14	REST	chr3:42742433-42743509	PANC-1	pancreas:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
15	REST	chr3:42742542-42743916	U87	brain:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126 chr3:42743855-42743863
16	REST	chr3:42742595-42743552	HepG2	liver:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126
17	REST	chr3:42742614-42743735	HCT-116	colon:	n/a	chr3:42743107-42743127 chr3:42743110-42743123 chr3:42743107-42743127 chr3:42743113-42743127 chr3:42743107-42743127 chr3:42743117-42743125 chr3:42743107-42743120 chr3:42743107-42743116 chr3:42743112-42743121 chr3:42743108-42743126

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42737037..42739602-chr3:42741625..42745097,3	K562	blood:

Variant related genes	Relation type
HHATL-AS1	TF binding region
HHATL	TF binding region
ENSG00000010282	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10461012	0.82[EUR][1000 genomes]
rs11129969	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11129970	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11709054	0.97[ASN][1000 genomes]
rs11709500	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11713172	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11915803	0.85[ASN][1000 genomes]
rs17238314	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17238798	0.85[ASN][1000 genomes]
rs2240861	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34110933	0.92[ASN][1000 genomes]
rs55884426	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55904344	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59478814	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59713146	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60176972	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62246603	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62246606	0.95[ASN][1000 genomes]
rs62250113	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62250114	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6442057	0.96[ASN][1000 genomes]
rs9836162	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9837412	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42728000-42742800	Weak transcription	Gastric	stomach
2	chr3:42738800-42743600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr3:42739200-42751800	Weak transcription	Pancreas	Pancrea
4	chr3:42740400-42742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:42740600-42742800	Weak transcription	Spleen	Spleen
6	chr3:42740800-42742800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:42740800-42744200	Active TSS	Left Ventricle	heart
8	chr3:42741200-42742800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:42741200-42742800	Enhancers	Fetal Heart	heart
10	chr3:42741200-42744400	Active TSS	Right Ventricle	heart
11	chr3:42741800-42742800	Weak transcription	Lung	lung
12	chr3:42742000-42742800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr3:42742000-42742800	Enhancers	Fetal Muscle Leg	muscle
14	chr3:42742000-42743600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr3:42742000-42744200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr3:42742000-42744200	Active TSS	Right Atrium	heart
17	chr3:42742000-42744800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr3:42742000-42745000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:42742200-42744200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr3:42742400-42743000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:42742400-42743200	Active TSS	Psoas Muscle	Psoas
22	chr3:42742400-42744200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:42742400-42744800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr3:42742600-42743000	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr3:42742600-42743400	Enhancers	Hela-S3	cervix
26	chr3:42742600-42743600	Enhancers	HSMMtube	muscle
27	chr3:42742600-42743800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:42742600-42744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:42742600-42744000	Enhancers	Cortex derived primary cultured neurospheres	brain

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