Variant report

Variant	nsv965419
Chromosome Location	chr3:86275989-86284412
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	BCL3	chr3:86278153-86278659	A549	lung:	n/a	n/a
2	BCL3	chr3:86278075-86278666	A549	lung:	n/a	n/a
3	CEBPB	chr3:86278150-86278633	A549	lung:	n/a	n/a
4	CEBPB	chr3:86278176-86278631	A549	lung:	n/a	n/a
5	CEBPB	chr3:86277988-86278695	A549	lung:	n/a	n/a
6	CEBPB	chr3:86283189-86283402	A549	lung:	n/a	n/a
7	E2F4	chr3:86277136-86277440	MCF10A-Er-Src	breast:	n/a	chr3:86277293-86277302
8	E2F4	chr3:86276330-86276526	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr3:86278846-86279037	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr3:86277900-86278697	A549	lung:	n/a	chr3:86278419-86278433
11	EP300	chr3:86277867-86278892	A549	lung:	n/a	chr3:86278419-86278433
12	FOXA2	chr3:86278247-86278553	A549	lung:	n/a	n/a
13	GATA3	chr3:86278184-86278646	A549	lung:	n/a	n/a
14	GATA3	chr3:86277906-86278867	A549	lung:	n/a	n/a
15	GATA3	chr3:86282842-86282961	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr3:86284106-86284323	HepG2	liver:	n/a	chr3:86284220-86284233
17	JUND	chr3:86278275-86278655	A549	lung:	n/a	n/a
18	JUND	chr3:86284074-86284393	HepG2	liver:	n/a	n/a
19	MAFF	chr3:86278878-86279154	HepG2	liver:	n/a	chr3:86279032-86279050
20	MAFF	chr3:86279925-86280298	HepG2	liver:	n/a	chr3:86280109-86280127
21	MAFF	chr3:86279933-86280291	K562	blood:	n/a	chr3:86280109-86280127
22	MAFK	chr3:86279935-86280290	Hela-S3	cervix:	n/a	chr3:86280110-86280125
23	MAFK	chr3:86279930-86280289	K562	blood:	n/a	chr3:86280110-86280125
24	MAFK	chr3:86279938-86280297	HepG2	liver:	n/a	chr3:86280110-86280125
25	MAFK	chr3:86278882-86279208	HepG2	liver:	n/a	chr3:86279034-86279045 chr3:86279034-86279049 chr3:86279034-86279045 chr3:86279035-86279046
26	MAFK	chr3:86279928-86280305	HepG2	liver:	n/a	chr3:86280110-86280125
27	MAFK	chr3:86279784-86280384	GM12878	blood:	n/a	chr3:86280110-86280125
28	MAFK	chr3:86279913-86280301	IMR90	lung:	n/a	chr3:86280110-86280125
29	MAFK	chr3:86278909-86279190	HepG2	liver:	n/a	chr3:86279034-86279045 chr3:86279034-86279049 chr3:86279034-86279045 chr3:86279035-86279046
30	MAFK	chr3:86278946-86279191	IMR90	lung:	n/a	chr3:86279034-86279045 chr3:86279034-86279049 chr3:86279034-86279045 chr3:86279035-86279046
31	MAFK	chr3:86279936-86280299	H1-hESC	embryonic stem cell:	n/a	chr3:86280110-86280125
32	POLR2A	chr3:86277996-86278825	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr3:86283687-86283828	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr3:86278112-86278792	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr3:86279478-86279627	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr3:86283968-86284370	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr3:86283596-86283628	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr3:86283975-86284408	H1-neurons	neurons:	n/a	n/a
39	REST	chr3:86278126-86278738	H1-neurons	neurons:	n/a	n/a
40	REST	chr3:86277890-86279006	H1-neurons	neurons:	n/a	n/a
41	REST	chr3:86278185-86278591	A549	lung:	n/a	n/a
42	SP1	chr3:86277935-86278770	A549	lung:	n/a	n/a
43	SP1	chr3:86278117-86278657	A549	lung:	n/a	n/a
44	STAT3	chr3:86283798-86283848	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr3:86278201-86278577	A549	lung:	n/a	n/a
46	TCF12	chr3:86277963-86278817	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:86277500-86277550	HL-60	blood:	n/a
2	chr3:86277500-86277550	PrEC	prostate:	n/a
3	chr3:86277500-86277550	U87	brain:	n/a
4	chr3:86277500-86277550	GM06990	blood:	n/a
5	chr3:86277500-86277550	AG10803	skin:	n/a
6	chr3:86277500-86277550	AG09309	skin:	n/a
7	chr3:86277500-86277550	SK-N-SH_RA	brain:	n/a
8	chr3:86277500-86277550	BE2_C	brain:	n/a
9	chr3:86277500-86277550	AG04450	lung:	fetal
10	chr3:86277500-86277550	Jurkat	blood:	n/a
11	chr3:86277500-86277550	BJ	skin:	n/a
12	chr3:86277500-86277550	SAEC	small airway:	n/a
13	chr3:86277500-86277550	GM12892	blood:	n/a
14	chr3:86277500-86277550	GM12878	blood:	n/a
15	chr3:86277500-86277550	T-47D	breast:	n/a
16	chr3:86277500-86277550	HCF	heart:	n/a
17	chr3:86277500-86277550	HMEC	breast:	n/a
18	chr3:86277500-86277550	MCF10A-Er-Src	breast:	n/a
19	chr3:86277500-86277550	H1-hESC	embryonic stem cell:	embryo
20	chr3:86277500-86277550	AoSMC	blood vessel:	n/a
21	chr3:86277500-86277550	SK-N-SH	brain:	n/a
22	chr3:86277500-86277550	GM12891	blood:	n/a
23	chr3:86277500-86277550	HCT-116	colon:	n/a
24	chr3:86277500-86277550	PANC-1	pancreas:	n/a
25	chr3:86277500-86277550	HCM	heart:	n/a
26	chr3:86277500-86277550	HRCEpiC	kidney:	n/a
27	chr3:86277500-86277550	NH-A	brain:	n/a
28	chr3:86277500-86277550	HEEpiC	esophagus:	n/a
29	chr3:86277500-86277550	HRE	kidney:	n/a
30	chr3:86277500-86277550	Hela-S3	cervix:	n/a
31	chr3:86277500-86277550	AG04449	skin:	fetal
32	chr3:86277500-86277550	Hepatocyte	liver:	n/a
33	chr3:86277500-86277550	K562	blood:	n/a
34	chr3:86277500-86277550	NHBE	bronchial:	n/a
35	chr3:86277500-86277550	HNPCEpiC	eye:	n/a
36	chr3:86277500-86277550	ECC-1	luminal epithelium:	n/a
37	chr3:86277500-86277550	HUVEC	blood vessel:	n/a
38	chr3:86277500-86277550	HepG2	liver:	n/a
39	chr3:86277500-86277550	PFSK-1	brain:	n/a
40	chr3:86277500-86277550	IMR90	lung:	fetal
41	chr3:86277500-86277550	HEK293	kidney:	embryo
42	chr3:86277500-86277550	LNCaP	prostate:	n/a
43	chr3:86277500-86277550	Caco-2	colon:	n/a
44	chr3:86277500-86277550	HPAEpiC	pulmonary alveolar:	n/a
45	chr3:86277500-86277550	SKMC	muscle:	n/a
46	chr3:86277500-86277550	HRPEpiC	eye:	n/a
47	chr3:86277500-86277550	GM19239	blood:	n/a
48	chr3:86277500-86277550	MCF-7	breast:	n/a
49	chr3:86277500-86277550	AG09319	gingival:	n/a
50	chr3:86277500-86277550	ovcar-3	ovarian:	n/a

Variant related genes	Relation type
RNU6-1129P	TF binding region
RNU6-1129P	CpG island

Extended variants
information (count: 351 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545273042	chr3:86275994-86275995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368640862	chr3:86275995-86275996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530211768	chr3:86276031-86276032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142069830	chr3:86276036-86276037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375838769	chr3:86276044-86276045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117627075	chr3:86276058-86276059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558793511	chr3:86276073-86276074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4585200	chr3:86276106-86276107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4585199	chr3:86276108-86276109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9834969	chr3:86276146-86276147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144277457	chr3:86276163-86276164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552108278	chr3:86276168-86276169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147775822	chr3:86276180-86276181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188691977	chr3:86276181-86276182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537881123	chr3:86276194-86276195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7643023	chr3:86276202-86276203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528678283	chr3:86276204-86276205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569152186	chr3:86276214-86276215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115302575	chr3:86276220-86276221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554758681	chr3:86276290-86276291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181226783	chr3:86276302-86276303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9856647	chr3:86276313-86276314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558728147	chr3:86276337-86276338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576893328	chr3:86276472-86276473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377252539	chr3:86276491-86276492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576993708	chr3:86276528-86276529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561333894	chr3:86276533-86276534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563148388	chr3:86276585-86276586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1877512	chr3:86276634-86276635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140127587	chr3:86276679-86276680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148132036	chr3:86276693-86276694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200988771	chr3:86276696-86276697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201957156	chr3:86276697-86276698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544387134	chr3:86276715-86276716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527927970	chr3:86276747-86276748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552235273	chr3:86276764-86276765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186968405	chr3:86276781-86276782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190205989	chr3:86276811-86276812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549776201	chr3:86276834-86276835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370501002	chr3:86276861-86276862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569015956	chr3:86276886-86276887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35591680	chr3:86276890-86276891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536550824	chr3:86276905-86276906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560517717	chr3:86277005-86277006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181504820	chr3:86277022-86277023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150291369	chr3:86277036-86277037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534014436	chr3:86277069-86277070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558665029	chr3:86277083-86277084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577034627	chr3:86277090-86277091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545977191	chr3:86277109-86277110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86274800-86278000	Weak transcription	A549	lung
2	chr3:86276800-86277000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:86277000-86277400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:86277400-86277800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:86277800-86284200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:86278000-86278200	Flanking Active TSS	A549	lung
7	chr3:86278200-86279000	Active TSS	A549	lung
8	chr3:86283800-86284200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr3:86283800-86285000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:86283800-86287000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:86283800-86287000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:86284000-86284200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:86284200-86284600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:86284200-86286600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:86284400-86285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:86284400-86285600	Enhancers	HUES6 Cell Line	embryonic stem cell

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