Variant report

Variant	nsv590849
Chromosome Location	chr3:84479070-84574491
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	CEBPB	chr3:84493061-84493358	HepG2	liver:	n/a	chr3:84493298-84493309 chr3:84493187-84493198
2	CEBPB	chr3:84572638-84572966	IMR90	lung:	n/a	chr3:84572795-84572806
3	CEBPB	chr3:84518301-84518506	HepG2	liver:	n/a	chr3:84518398-84518409
4	CEBPB	chr3:84572641-84572920	A549	lung:	n/a	chr3:84572795-84572806
5	CEBPB	chr3:84572625-84572969	HepG2	liver:	n/a	chr3:84572795-84572806
6	CTCF	chr3:84524158-84524269	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr3:84559312-84559459	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:84559260-84559410	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:84493014-84493094	ProgFib	skin:	n/a	n/a
10	CTCF	chr3:84559300-84559450	BE2_C	brain:	n/a	n/a
11	CTCF	chr3:84559260-84559410	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr3:84559300-84559442	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:84559320-84559419	HepG2	liver:	n/a	n/a
14	CTCF	chr3:84520190-84520261	GM20000	blood:	n/a	n/a
15	CTCF	chr3:84559280-84559430	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr3:84559300-84559450	HepG2	liver:	n/a	n/a
17	CTCF	chr3:84505267-84505398	Lung_OC	lung:	n/a	n/a
18	CTCF	chr3:84559349-84559406	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:84526493-84526531	LNCaP	prostate:	n/a	n/a
20	CTCF	chr3:84559260-84559410	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr3:84488243-84488298	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:84542998-84543132	GM13976	blood:	n/a	n/a
23	CTCF	chr3:84488229-84488278	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:84504674-84504694	GM10248	blood:	n/a	n/a
25	CTCF	chr3:84559240-84559390	BE2_C	brain:	n/a	n/a
26	CTCF	chr3:84516160-84516235	GM13976	blood:	n/a	n/a
27	CTCF	chr3:84559220-84559370	A549	lung:	n/a	n/a
28	CTCF	chr3:84478920-84479070	Caco-2	colon:	n/a	n/a
29	CTCF	chr3:84559324-84559396	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:84488183-84488278	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:84559280-84559430	MCF-7	breast:	n/a	n/a
32	E2F4	chr3:84564824-84564904	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr3:84488711-84488988	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr3:84482248-84482329	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr3:84549232-84549432	MCF10A-Er-Src	breast:	n/a	chr3:84549397-84549406
36	E2F4	chr3:84486822-84487020	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr3:84545335-84545513	MCF10A-Er-Src	breast:	n/a	n/a
38	EGR1	chr3:84488093-84488237	GM12878	blood:	n/a	n/a
39	EP300	chr3:84552168-84552190	GM12878	blood:	n/a	n/a
40	FAM48A	chr3:84526591-84526650	GM12878	blood:	n/a	n/a
41	FOS	chr3:84488703-84489047	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:84560871-84561125	MCF10A-Er-Src	breast:	n/a	chr3:84560878-84560885 chr3:84560989-84560997 chr3:84560989-84560996 chr3:84560989-84560997 chr3:84560878-84560886
43	FOS	chr3:84560820-84561162	MCF10A-Er-Src	breast:	n/a	chr3:84560878-84560885 chr3:84560989-84560997 chr3:84560989-84560996 chr3:84560989-84560997 chr3:84560878-84560886
44	FOS	chr3:84488692-84489043	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:84560822-84561132	MCF10A-Er-Src	breast:	n/a	chr3:84560878-84560885 chr3:84560989-84560997 chr3:84560989-84560996 chr3:84560989-84560997 chr3:84560878-84560886
46	FOS	chr3:84488690-84489000	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr3:84509341-84509561	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr3:84488700-84489045	MCF10A-Er-Src	breast:	n/a	n/a
49	FOXA2	chr3:84536305-84536472	HepG2	liver:	n/a	n/a
50	GABPA	chr3:84547701-84547772	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:
2	chr3:84494646..84496609-chr3:84500255..84502714,2	K562	blood:

Variant related genes	Relation type
ENSG00000266652	TF binding region

Extended variants
information (count: 963 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115262343	chr3:84484006-84484007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115204518	chr3:84484017-84484018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537342565	chr3:84484039-84484040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192954448	chr3:84484043-84484044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114248471	chr3:84484051-84484052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574067286	chr3:84484067-84484068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144424263	chr3:84484100-84484101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559821692	chr3:84484115-84484116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578000592	chr3:84484122-84484123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545622357	chr3:84484140-84484141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185158072	chr3:84484169-84484170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531136085	chr3:84484188-84484189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113233786	chr3:84484245-84484246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75620484	chr3:84484273-84484274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547113488	chr3:84484274-84484275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190438598	chr3:84484307-84484308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540046659	chr3:84484317-84484318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182226271	chr3:84484353-84484354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538833022	chr3:84484366-84484367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183628985	chr3:84484371-84484372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539152801	chr3:84484412-84484413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558291320	chr3:84484426-84484427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575184894	chr3:84484427-84484428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113878855	chr3:84484456-84484457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537720371	chr3:84484504-84484505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554423122	chr3:84484548-84484549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116489864	chr3:84484591-84484592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116012039	chr3:84484595-84484596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55954701	chr3:84484603-84484604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535020953	chr3:84484609-84484610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188332385	chr3:84484613-84484614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578082723	chr3:84484657-84484658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545149720	chr3:84484694-84484695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557566318	chr3:84484697-84484698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539842941	chr3:84484723-84484724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575447035	chr3:84484724-84484725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142646645	chr3:84484728-84484729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35888119	chr3:84484767-84484768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73842738	chr3:84484789-84484790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576823247	chr3:84484859-84484860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528717390	chr3:84484890-84484891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541064124	chr3:84484915-84484916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559085450	chr3:84484945-84484946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533080033	chr3:84484980-84484981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180787218	chr3:84484981-84484982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185588193	chr3:84484987-84484988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189999686	chr3:84485012-84485013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559470330	chr3:84485075-84485076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73127206	chr3:84485086-84485087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567577176	chr3:84485119-84485120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	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
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84484000-84485000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:84484400-84485000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:84484400-84485200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:84484600-84485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:84484600-84485000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:84484800-84485200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:84485000-84488800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:84485000-84493000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:84485200-84488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:84488600-84493000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:84488800-84493600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:84489400-84489800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:84489800-84490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:84490800-84491000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:84491600-84492600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:84492800-84494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:84493000-84493200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:84493600-84494600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:84494800-84495000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:84510800-84511200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:84525800-84526400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:84536400-84537200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:84537200-84538400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:84538400-84538600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:84538400-84538800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:84538400-84538800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:84538600-84538800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:84538800-84539000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr3:84541400-84541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:84547600-84547800	Enhancers	HSMM	muscle
31	chr3:84547600-84548000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:84547800-84548200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:84553600-84554400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:84553800-84554200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:84558200-84562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:84571600-84571800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:84571800-84572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:84572200-84572400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:84572600-84573000	Active TSS	Fetal Heart	heart
40	chr3:84574400-84575000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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