Variant report

Variant	esv3416829
Chromosome Location	chr16:34403801-34405799
allele	n/a
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	MAFF	chr16:34405144-34405189	K562	blood:	n/a	chr16:34405159-34405177
2	MAFF	chr16:34405048-34405344	HepG2	liver:	n/a	chr16:34405159-34405177
3	MAFK	chr16:34405085-34405352	IMR90	lung:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
4	MAFK	chr16:34405057-34405302	HepG2	liver:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
5	MAFK	chr16:34405130-34405238	K562	blood:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
6	MAFK	chr16:34405037-34405342	HepG2	liver:	n/a	chr16:34405161-34405176 chr16:34405162-34405173 chr16:34405160-34405174 chr16:34405161-34405172 chr16:34405161-34405172 chr16:34405161-34405177
7	MAX	chr16:34405613-34405792	NB4	blood:	n/a	chr16:34405685-34405696 chr16:34405684-34405697 chr16:34405688-34405695
8	POLR2A	chr16:34404320-34404544	K562	blood:	n/a	n/a
9	POLR2A	chr16:34404533-34404541	MCF-7	breast:	n/a	n/a
10	POLR2A	chr16:34404735-34404770	A549	lung:	n/a	n/a
11	POLR2A	chr16:34404669-34404797	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:34404689-34404797	A549	lung:	n/a	n/a
13	POLR2A	chr16:34404486-34404615	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:34404647-34404779	A549	lung:	n/a	n/a
15	POLR2A	chr16:34404507-34404537	Gliobla	brain:	n/a	n/a
16	POLR2A	chr16:34404664-34404807	A549	lung:	n/a	n/a
17	POLR2A	chr16:34404686-34404784	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:34404692-34404769	A549	lung:	n/a	n/a
19	POLR2A	chr16:34404552-34404768	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:34404682-34404788	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:34404473-34404551	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:34404540-34404871	Gliobla	brain:	n/a	n/a
23	POLR2A	chr16:34403913-34403966	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34404772-34404822	NHDF-neo	bronchial:	n/a
2	chr16:34404619-34404669	HMEC	breast:	n/a
3	chr16:34403971-34404021	HRE	kidney:	n/a
4	chr16:34403971-34404021	ProgFib	skin:	n/a
5	chr16:34404772-34404822	SAEC	small airway:	n/a
6	chr16:34404772-34404822	GM12892	blood:	n/a
7	chr16:34404619-34404669	MCF-7	breast:	n/a
8	chr16:34404673-34404723	HIPEpiC	eye:	n/a
9	chr16:34405690-34405740	AG09319	gingival:	n/a
10	chr16:34404619-34404669	AG09309	skin:	n/a
11	chr16:34404772-34404822	T-47D	breast:	n/a
12	chr16:34404054-34404104	HCF	heart:	n/a
13	chr16:34405690-34405740	HEEpiC	esophagus:	n/a
14	chr16:34404524-34404574	T-47D	breast:	n/a
15	chr16:34403971-34404021	ovcar-3	ovarian:	n/a
16	chr16:34404054-34404104	Hepatocyte	liver:	n/a
17	chr16:34404054-34404104	HL-60	blood:	n/a
18	chr16:34403971-34404021	H1-hESC	embryonic stem cell:	embryo
19	chr16:34404054-34404104	HRPEpiC	eye:	n/a
20	chr16:34404524-34404574	ECC-1	luminal epithelium:	n/a
21	chr16:34405690-34405740	GM12892	blood:	n/a
22	chr16:34404054-34404104	Jurkat	blood:	n/a
23	chr16:34403971-34404021	HEK293	kidney:	embryo
24	chr16:34404772-34404822	AG04449	skin:	fetal
25	chr16:34405690-34405740	Caco-2	colon:	n/a
26	chr16:34404673-34404723	HCPEpiC	choroid plexus:	n/a
27	chr16:34404524-34404574	Jurkat	blood:	n/a
28	chr16:34405690-34405740	HMEC	breast:	n/a
29	chr16:34404673-34404723	HMEC	breast:	n/a
30	chr16:34405690-34405740	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:34405690-34405740	IMR90	lung:	fetal
32	chr16:34405690-34405740	PrEC	prostate:	n/a
33	chr16:34404619-34404669	SAEC	small airway:	n/a
34	chr16:34404673-34404723	GM12878	blood:	n/a
35	chr16:34404524-34404574	SK-N-SH_RA	brain:	n/a
36	chr16:34404774-34404824	Jurkat	blood:	n/a
37	chr16:34405690-34405740	NH-A	brain:	n/a
38	chr16:34404774-34404824	AG09319	gingival:	n/a
39	chr16:34404673-34404723	AG09309	skin:	n/a
40	chr16:34404524-34404574	AG10803	skin:	n/a
41	chr16:34404673-34404723	NT2-D1	testis:	n/a
42	chr16:34404673-34404723	ovcar-3	ovarian:	n/a
43	chr16:34404774-34404824	SK-N-SH_RA	brain:	n/a
44	chr16:34404619-34404669	GM19239	blood:	n/a
45	chr16:34404774-34404824	H1-hESC	embryonic stem cell:	embryo
46	chr16:34404673-34404723	T-47D	breast:	n/a
47	chr16:34404524-34404574	HCT-116	colon:	n/a
48	chr16:34404054-34404104	ECC-1	luminal epithelium:	n/a
49	chr16:34403971-34404021	GM12892	blood:	n/a
50	chr16:34404774-34404824	PFSK-1	brain:	n/a

Variant related genes	Relation type
SLC25A1P4	TF binding region
UBE2MP1	TF binding region
SLC25A1P4	CpG island
UBE2MP1	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 78 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207475857	chr16:34403918-34403919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376447700	chr16:34403962-34403963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550027453	chr16:34403965-34403966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568048991	chr16:34403966-34403967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553599270	chr16:34403971-34403972	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs571914493	chr16:34403975-34403976	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs534260968	chr16:34403976-34403977	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs111444300	chr16:34403979-34403980	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs558801378	chr16:34403980-34403981	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs2170422	chr16:34403989-34403990	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544310123	chr16:34403995-34403996	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs549879501	chr16:34404006-34404007	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs545855022	chr16:34404080-34404081	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs564054509	chr16:34404092-34404093	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs530442470	chr16:34404328-34404329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564199246	chr16:34404346-34404347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531352975	chr16:34404445-34404446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs543117936	chr16:34404464-34404465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561308734	chr16:34404512-34404513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528876619	chr16:34404539-34404540	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs7206496	chr16:34404560-34404561	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565866078	chr16:34404561-34404562	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs533136672	chr16:34404608-34404609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551331136	chr16:34404619-34404620	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs569833031	chr16:34404629-34404630	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs538299730	chr16:34404714-34404715	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs556707968	chr16:34404722-34404723	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs568435788	chr16:34404784-34404785	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs367614885	chr16:34404802-34404803	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs535878460	chr16:34404839-34404840	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs576901376	chr16:34405039-34405040	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs558022275	chr16:34405080-34405081	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs576589011	chr16:34405149-34405150	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs370596190	chr16:34405151-34405152	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs72810758	chr16:34405187-34405188	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs543529249	chr16:34405199-34405200	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs114297266	chr16:34405216-34405217	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs573464246	chr16:34405256-34405257	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs144138303	chr16:34405259-34405260	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs148280072	chr16:34405269-34405270	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs559055357	chr16:34405276-34405277	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs371098976	chr16:34405280-34405281	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs191366192	chr16:34405307-34405308	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs533028357	chr16:34405332-34405333	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs76282148	chr16:34405643-34405644	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs370169201	chr16:34405710-34405711	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
47	rs183724556	chr16:34405728-34405729	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs577580162	chr16:34405733-34405734	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs531565408	chr16:34405760-34405761	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs544944361	chr16:34405784-34405785	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Rett syndrome	21593744	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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