Variant report

Variant	rs73348744
Chromosome Location	chr5:126778245-126778246
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	CTCF	chr5:126778100-126778250	BJ	skin:	n/a	n/a
2	SMC3	chr5:126777384-126778646	SK-N-SH	brain:	n/a	chr5:126777979-126777993
3	CTCF	chr5:126778200-126778350	HMEC	breast:	n/a	n/a
4	CTCF	chr5:126778220-126778370	HPF	lung:	n/a	n/a
5	CTCF	chr5:126777542-126778438	A549	lung:	n/a	chr5:126777977-126777995
6	RAD21	chr5:126777699-126778284	HCT-116	colon:	n/a	chr5:126777975-126777994
7	RAD21	chr5:126777689-126778267	A549	lung:	n/a	chr5:126777975-126777994
8	RAD21	chr5:126777750-126778289	HCT-116	colon:	n/a	chr5:126777975-126777994
9	CTCF	chr5:126777606-126778544	SK-N-SH	brain:	n/a	chr5:126777977-126777995
10	RAD21	chr5:126777400-126778540	SK-N-SH	brain:	n/a	chr5:126777975-126777994
11	CTCF	chr5:126778100-126778250	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126625467..126626301-chr5:126777581..126778549,4	MCF-7	breast:
2	chr5:126777508..126778454-chr5:126828387..126829368,3	K562	blood:
3	chr5:126633299..126634357-chr5:126777441..126778435,5	MCF-7	breast:
4	chr5:126625421..126626248-chr5:126777545..126778246,2	MCF-7	breast:
5	chr5:126764500..126767377-chr5:126777368..126779276,2	K562	blood:
6	chr5:126775465..126778427-chr5:126779477..126781468,2	K562	blood:

Variant related genes	Relation type
MEGF10	TF binding region
ENSG00000145794	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10519935	0.93[ASN][1000 genomes]
rs12109001	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12110288	0.88[EUR][1000 genomes]
rs1363384	0.93[ASN][1000 genomes]
rs1363386	0.93[ASN][1000 genomes]
rs1501993	0.93[ASN][1000 genomes]
rs1529468	0.93[ASN][1000 genomes]
rs17164941	0.81[AFR][1000 genomes]
rs17164951	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165013	0.93[ASN][1000 genomes]
rs17165018	0.93[ASN][1000 genomes]
rs17165019	0.93[ASN][1000 genomes]
rs17684644	0.85[ASN][1000 genomes]
rs17684655	0.85[ASN][1000 genomes]
rs17684679	0.93[ASN][1000 genomes]
rs17684691	0.93[ASN][1000 genomes]
rs17684740	0.93[ASN][1000 genomes]
rs17684775	0.93[ASN][1000 genomes]
rs17763126	0.85[ASN][1000 genomes]
rs17763172	0.93[ASN][1000 genomes]
rs1990954	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042941	0.93[ASN][1000 genomes]
rs2042942	0.93[ASN][1000 genomes]
rs2042943	0.93[ASN][1000 genomes]
rs2108888	0.88[EUR][1000 genomes]
rs2270933	0.80[AFR][1000 genomes]
rs3851468	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41298316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55821064	0.88[EUR][1000 genomes]
rs56157640	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853109	0.86[AFR][1000 genomes]
rs58718502	0.83[AFR][1000 genomes]
rs60681812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60998265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61021426	0.86[AFR][1000 genomes]
rs61031224	0.88[AFR][1000 genomes]
rs6865700	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6866275	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6873921	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874260	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6877383	0.93[ASN][1000 genomes]
rs6892624	0.88[EUR][1000 genomes]
rs73346906	0.87[ASN][1000 genomes]
rs73348755	0.83[AFR][1000 genomes]
rs7715710	0.93[ASN][1000 genomes]
rs929781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
7	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
8	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:126768200-126782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:126774800-126778800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:126776000-126783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:126776400-126780800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:126776400-126785200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:126776600-126779200	Genic enhancers	Brain Substantia Nigra	brain
17	chr5:126776600-126782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:126776600-126784600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:126776800-126778400	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:126777000-126782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:126777000-126783200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:126777200-126779600	Strong transcription	HSMMtube	muscle
23	chr5:126777600-126778400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:126777600-126779000	Enhancers	Brain Hippocampus Middle	brain
25	chr5:126777600-126783200	Weak transcription	NH-A	brain
26	chr5:126777800-126778400	Weak transcription	Brain Anterior Caudate	brain
27	chr5:126777800-126781000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:126778000-126783200	Weak transcription	HSMM	muscle
29	chr5:126778000-126790800	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:126778000-126795400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:126778200-126779600	Strong transcription	Fetal Muscle Trunk	muscle

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