Variant report

Variant	rs56711325
Chromosome Location	chr14:79745636-79745637
allele	C/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	BACH1	chr14:79745335-79745658	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:79745634-79745881	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr14:79745128-79747049	IMR90	lung:	n/a	n/a
4	NRF1	chr14:79745368-79746040	SK-N-SH	brain:	n/a	chr14:79745516-79745525
5	ELF1	chr14:79745292-79746273	MCF-7	breast:	n/a	chr14:79746143-79746154
6	MYC	chr14:79745332-79745904	MCF-7	breast:	n/a	n/a
7	REST	chr14:79745389-79745703	SK-N-SH	brain:	n/a	n/a
8	MAX	chr14:79745214-79745976	MCF-7	breast:	n/a	chr14:79745260-79745267
9	RAD21	chr14:79745593-79746046	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOS	chr14:79745482-79745768	MCF10A-Er-Src	breast:	n/a	chr14:79745515-79745524 chr14:79745485-79745494
11	MYC	chr14:79745364-79745839	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF143	chr14:79745333-79746141	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr14:79744948-79747318	HEK293-T-REx	kidney:	n/a	chr14:79745602-79745611 chr14:79745894-79745903 chr14:79745236-79745245
14	RAD21	chr14:79745383-79745817	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr14:79745015-79746437	H1-neurons	neurons:	n/a	n/a
16	E2F6	chr14:79745070-79746052	H1-hESC	embryonic stem cell:	n/a	chr14:79745996-79746006 chr14:79745761-79745771
17	TEAD4	chr14:79745368-79745859	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr14:79745419-79746166	H1-hESC	embryonic stem cell:	n/a	chr14:79745768-79745777 chr14:79745515-79745524 chr14:79745485-79745494
19	CHD2	chr14:79745477-79745677	HepG2	liver:	n/a	chr14:79745489-79745499
20	POLR2A	chr14:79745433-79746013	MCF-7	breast:	n/a	n/a
21	E2F6	chr14:79745134-79745730	A549	lung:	n/a	n/a
22	CTCF	chr14:79745500-79745650	HCPEpiC	choroid plexus:	n/a	chr14:79745602-79745615
23	POLR2A	chr14:79745324-79746002	Gliobla	brain:	n/a	n/a
24	POLR2A	chr14:79745223-79746092	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr14:79744563-79746820	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr14:79745394-79745948	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr14:79745072-79746107	SK-N-SH	brain:	n/a	chr14:79745260-79745267
28	MAX	chr14:79745092-79745830	H1-hESC	embryonic stem cell:	n/a	chr14:79745260-79745267
29	TEAD4	chr14:79745333-79745982	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr14:79745456-79746006	MCF-7	breast:	n/a	n/a
31	REST	chr14:79744962-79747625	H1-neurons	neurons:	n/a	chr14:79745945-79745958 chr14:79745255-79745268
32	MYC	chr14:79745395-79745751	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr14:79745379-79745955	MCF-7	breast:	n/a	n/a
34	MXI1	chr14:79744928-79746971	IMR90	lung:	n/a	n/a
35	MAX	chr14:79745128-79746074	SK-N-SH	brain:	n/a	chr14:79745260-79745267
36	KAP1	chr14:79745178-79746199	HEK293	kidney:	n/a	n/a
37	POLR2A	chr14:79745401-79745910	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:79744922-79746218	H1-hESC	embryonic stem cell:	n/a	chr14:79745260-79745267
39	MAX	chr14:79745245-79746114	ECC-1	luminal epithelium:	n/a	chr14:79745260-79745267
40	POLR2A	chr14:79744991-79746196	HEK293	kidney:	n/a	n/a
41	KAP1	chr14:79745301-79746175	U2OS	brain:	n/a	n/a
42	CHD2	chr14:79745248-79746175	H1-hESC	embryonic stem cell:	n/a	chr14:79745489-79745499
43	STAT3	chr14:79745474-79745680	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:79745348-79746011	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:79745343-79745730	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr14:79745494-79745883	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr14:79745085-79746440	H1-neurons	neurons:	n/a	n/a
48	FOS	chr14:79745498-79745772	MCF10A-Er-Src	breast:	n/a	chr14:79745515-79745524
49	MAX	chr14:79744972-79746295	A549	lung:	n/a	chr14:79745260-79745267
50	HA-E2F1	chr14:79745089-79746277	MCF-7	breast:	n/a	chr14:79745996-79746006 chr14:79745761-79745771

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:79745592-79745642	NB4	blood:	n/a
2	chr14:79745592-79745642	AG09309	skin:	n/a
3	chr14:79745592-79745642	SK-N-SH	brain:	n/a
4	chr14:79745592-79745642	HNPCEpiC	eye:	n/a
5	chr14:79745592-79745642	HIPEpiC	eye:	n/a
6	chr14:79745592-79745642	BE2_C	brain:	n/a
7	chr14:79745592-79745642	ProgFib	skin:	n/a
8	chr14:79745592-79745642	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:79745592-79745642	HCM	heart:	n/a
10	chr14:79745592-79745642	AG04450	lung:	fetal
11	chr14:79745592-79745642	MCF10A-Er-Src	breast:	n/a
12	chr14:79745592-79745642	IMR90	lung:	fetal
13	chr14:79745592-79745642	PANC-1	pancreas:	n/a
14	chr14:79745592-79745642	H1-hESC	embryonic stem cell:	embryo
15	chr14:79745592-79745642	K562	blood:	n/a
16	chr14:79745592-79745642	U87	brain:	n/a
17	chr14:79745592-79745642	BJ	skin:	n/a
18	chr14:79745592-79745642	PrEC	prostate:	n/a
19	chr14:79745592-79745642	HCPEpiC	choroid plexus:	n/a
20	chr14:79745592-79745642	CMK	blood:	n/a
21	chr14:79745592-79745642	Caco-2	colon:	n/a
22	chr14:79745592-79745642	GM06990	blood:	n/a
23	chr14:79745592-79745642	HCF	heart:	n/a
24	chr14:79745592-79745642	GM19239	blood:	n/a
25	chr14:79745592-79745642	HAEpiC	amniotic membrane:	n/a
26	chr14:79745592-79745642	HRPEpiC	eye:	n/a
27	chr14:79745592-79745642	SAEC	small airway:	n/a
28	chr14:79745592-79745642	AoSMC	blood vessel:	n/a
29	chr14:79745592-79745642	MCF-7	breast:	n/a
30	chr14:79745592-79745642	NHBE	bronchial:	n/a
31	chr14:79745592-79745642	AG04449	skin:	fetal
32	chr14:79745592-79745642	SK-N-SH_RA	brain:	n/a
33	chr14:79745592-79745642	SKMC	muscle:	n/a
34	chr14:79745592-79745642	HMEC	breast:	n/a
35	chr14:79745592-79745642	HCT-116	colon:	n/a
36	chr14:79745592-79745642	HL-60	blood:	n/a
37	chr14:79745592-79745642	Hepatocyte	liver:	n/a
38	chr14:79745592-79745642	NT2-D1	testis:	n/a
39	chr14:79745592-79745642	RPTEC	kidney:	n/a
40	chr14:79745592-79745642	HRE	kidney:	n/a
41	chr14:79745592-79745642	HRCEpiC	kidney:	n/a
42	chr14:79745592-79745642	Jurkat	blood:	n/a
43	chr14:79745592-79745642	NH-A	brain:	n/a
44	chr14:79745592-79745642	HEK293	kidney:	embryo
45	chr14:79745592-79745642	ECC-1	luminal epithelium:	n/a
46	chr14:79745592-79745642	Hela-S3	cervix:	n/a
47	chr14:79745592-79745642	ovcar-3	ovarian:	n/a
48	chr14:79745592-79745642	HUVEC	blood vessel:	n/a
49	chr14:79745592-79745642	HepG2	liver:	n/a
50	chr14:79745592-79745642	GM12891	blood:	n/a

Variant related genes	Relation type
NRXN3	TF binding region
NRXN3	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11627269	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628045	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12432262	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12882688	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12882872	0.82[AMR][1000 genomes]
rs12884217	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12888606	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1868635	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2218786	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4359363	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899738	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61995413	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7492515	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv528346	chr14:79683956-79747251	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79744600-79746000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:79744600-79746400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
3	chr14:79744600-79746600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:79744600-79747000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:79744600-79747000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr14:79744800-79746000	Bivalent/Poised TSS	HepG2	liver
7	chr14:79744800-79746200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:79744800-79746200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:79744800-79746400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr14:79744800-79746600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:79744800-79746600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:79744800-79746600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:79744800-79746600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:79744800-79746600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr14:79744800-79746600	Active TSS	Rectal Smooth Muscle	rectum
16	chr14:79744800-79746800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:79744800-79746800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:79744800-79746800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr14:79744800-79747200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:79744800-79747600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:79744800-79747600	Bivalent/Poised TSS	A549	lung
22	chr14:79744800-79747800	Bivalent/Poised TSS	NHLF	lung
23	chr14:79744800-79748400	Bivalent/Poised TSS	HSMM	muscle
24	chr14:79744800-79748600	Active TSS	Right Atrium	heart
25	chr14:79745000-79745800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:79745000-79746000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr14:79745000-79746000	Flanking Active TSS	Liver	Liver
28	chr14:79745000-79746000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:79745000-79746000	Bivalent Enhancer	Fetal Heart	heart
30	chr14:79745000-79746400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:79745000-79746400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
32	chr14:79745000-79746400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:79745000-79746400	Active TSS	Psoas Muscle	Psoas
34	chr14:79745000-79746400	Active TSS	HSMMtube	muscle
35	chr14:79745000-79746600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:79745000-79746600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:79745000-79746600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:79745000-79746600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:79745000-79746600	Active TSS	Fetal Kidney	kidney
40	chr14:79745000-79746600	Active TSS	Pancreas	Pancrea
41	chr14:79745000-79746800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr14:79745000-79747000	Active TSS	Brain Anterior Caudate	brain
43	chr14:79745000-79747000	Active TSS	Brain Substantia Nigra	brain
44	chr14:79745000-79748000	Active TSS	Aorta	Aorta
45	chr14:79745000-79749400	Active TSS	Osteobl	bone
46	chr14:79745200-79745800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:79745200-79745800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:79745200-79745800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:79745200-79745800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:79745200-79745800	Active TSS	Duodenum Mucosa	Duodenum

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