Variant report

Variant	nsv997859
Chromosome Location	chr3:163751814-163915341
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	BRCA1	chr3:163881866-163881882	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:163766257-163766618	HepG2	liver:	n/a	chr3:163766435-163766446
3	CEBPB	chr3:163805104-163805270	HepG2	liver:	n/a	chr3:163805134-163805145
4	CEBPB	chr3:163859641-163859926	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:163767753-163767980	HepG2	liver:	n/a	chr3:163767891-163767904
6	CEBPB	chr3:163890801-163890962	H1-hESC	embryonic stem cell:	n/a	chr3:163890911-163890922
7	CEBPB	chr3:163811615-163811972	Hela-S3	cervix:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
8	CEBPB	chr3:163890818-163891012	HepG2	liver:	n/a	chr3:163890911-163890922
9	CEBPB	chr3:163912780-163912994	A549	lung:	n/a	n/a
10	CEBPB	chr3:163860167-163860485	HepG2	liver:	n/a	chr3:163860323-163860334
11	CEBPB	chr3:163855035-163855235	HepG2	liver:	n/a	chr3:163855103-163855114
12	CEBPB	chr3:163886053-163886253	HepG2	liver:	n/a	chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886109-163886120 chr3:163886108-163886121 chr3:163886108-163886119 chr3:163886110-163886119
13	CEBPB	chr3:163776930-163777140	H1-hESC	embryonic stem cell:	n/a	chr3:163777001-163777012
14	CEBPB	chr3:163765442-163765609	A549	lung:	n/a	chr3:163765471-163765482
15	CEBPB	chr3:163811617-163811939	HepG2	liver:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
16	CEBPB	chr3:163767676-163768024	Hela-S3	cervix:	n/a	chr3:163767891-163767904
17	CEBPB	chr3:163765379-163765657	HepG2	liver:	n/a	chr3:163765471-163765482
18	CEBPB	chr3:163766296-163766594	H1-hESC	embryonic stem cell:	n/a	chr3:163766435-163766446
19	CEBPB	chr3:163776817-163777197	A549	lung:	n/a	chr3:163777001-163777012
20	CEBPB	chr3:163811718-163811889	H1-hESC	embryonic stem cell:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
21	CEBPB	chr3:163800790-163801049	HepG2	liver:	n/a	chr3:163800890-163800901
22	CEBPB	chr3:163811663-163811965	MCF-7	breast:	n/a	chr3:163811787-163811796 chr3:163811785-163811796
23	CEBPB	chr3:163776828-163777158	HepG2	liver:	n/a	chr3:163777001-163777012
24	CEBPB	chr3:163912738-163913096	MCF-7	breast:	n/a	n/a
25	CEBPB	chr3:163766344-163766626	MCF-7	breast:	n/a	chr3:163766435-163766446
26	CEBPB	chr3:163766249-163766626	A549	lung:	n/a	chr3:163766435-163766446
27	CEBPB	chr3:163776822-163777172	IMR90	lung:	n/a	chr3:163777001-163777012
28	CEBPB	chr3:163766254-163766629	IMR90	lung:	n/a	chr3:163766435-163766446
29	CEBPB	chr3:163766280-163766585	Hela-S3	cervix:	n/a	chr3:163766435-163766446
30	CEBPB	chr3:163766262-163766585	K562	blood:	n/a	chr3:163766435-163766446
31	CEBPB	chr3:163912779-163913052	HepG2	liver:	n/a	n/a
32	CEBPB	chr3:163766342-163766605	ECC-1	luminal epithelium:	n/a	chr3:163766435-163766446
33	CEBPB	chr3:163885974-163886233	A549	lung:	n/a	chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886110-163886119 chr3:163886109-163886120 chr3:163886108-163886121 chr3:163886108-163886119 chr3:163886110-163886119
34	CTCF	chr3:163912760-163912910	HCT-116	colon:	n/a	n/a
35	CTCF	chr3:163912720-163912870	RPTEC	kidney:	n/a	n/a
36	CTCF	chr3:163768223-163768250	GM13977	blood:	n/a	n/a
37	CTCF	chr3:163791234-163791365	GM10248	blood:	n/a	n/a
38	CTCF	chr3:163912820-163912970	HepG2	liver:	n/a	n/a
39	CTCF	chr3:163912765-163912878	GM13977	blood:	n/a	n/a
40	CTCF	chr3:163888360-163888510	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:163903942-163904236	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:163791236-163791374	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr3:163912740-163912890	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr3:163880640-163880685	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:163880629-163880686	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:163912772-163912867	LNCaP	prostate:	n/a	n/a
47	CTCF	chr3:163912720-163912870	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr3:163912740-163912890	NB4	blood:	n/a	n/a
49	CTCF	chr3:163912802-163912803	Medullo	brain:	n/a	n/a
50	CTCF	chr3:163912800-163912950	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
2	chr3:163831824..163833454-chr3:163836559..163838959,2	K562	blood:
3	chr17:57914661..57917089-chr3:163901184..163903192,2	MCF-7	breast:
4	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:
5	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:
6	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:
7	chr3:163831824..163833454-chr3:163836559..163838959,2	K562	blood:
8	chr15:52587462..52588981-chr3:163831086..163833177,2	MCF-7	breast:
9	chr3:163816031..163818067-chr3:163819325..163821288,2	MCF-7	breast:
10	chr14:86195432..86196215-chr3:163793960..163794780,2	MCF-7	breast:
11	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1263	chr3:163889311-163889332	MIMAT0005915

Variant related genes	Relation type
MIR1263	TF binding region
ENSG00000062716	chromatin interactions
ENSG00000128833	chromatin interactions

Extended variants
information (count: 6635 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:6635 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56918981	chr3:163751832-163751833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145473411	chr3:163751866-163751867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78331831	chr3:163751896-163751897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377514049	chr3:163751922-163751923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545739449	chr3:163751924-163751925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538463217	chr3:163751963-163751964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200922563	chr3:163751966-163751967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190656576	chr3:163751967-163751968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541433590	chr3:163751973-163751974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560984780	chr3:163751989-163751990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550060639	chr3:163751990-163751991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150662374	chr3:163751997-163751998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549911090	chr3:163752077-163752078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569903837	chr3:163752091-163752092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532746834	chr3:163752113-163752114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567338464	chr3:163752231-163752232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566261084	chr3:163752244-163752245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577653476	chr3:163752245-163752246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552545576	chr3:163752247-163752248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397877785	chr3:163752254-163752255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534288545	chr3:163752282-163752283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556658746	chr3:163752337-163752338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36100948	chr3:163752351-163752352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568089044	chr3:163752363-163752364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181957444	chr3:163752412-163752413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368483212	chr3:163752420-163752421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557103656	chr3:163752424-163752425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576918176	chr3:163752443-163752444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539642311	chr3:163752459-163752460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79318265	chr3:163752470-163752471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542233027	chr3:163752488-163752489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535770163	chr3:163752500-163752501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184546399	chr3:163752501-163752502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139908398	chr3:163752604-163752605	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386667808	chr3:163752616-163752617	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188042474	chr3:163752617-163752618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149850454	chr3:163752672-163752673	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75198630	chr3:163752717-163752718	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543468889	chr3:163752800-163752801	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563442969	chr3:163752854-163752855	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532566692	chr3:163752908-163752909	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552751196	chr3:163752977-163752978	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145886279	chr3:163753019-163753020	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374600578	chr3:163753087-163753088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1376959	chr3:163753113-163753114	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs371360357	chr3:163753119-163753120	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140721562	chr3:163753138-163753139	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548945917	chr3:163753139-163753140	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568052294	chr3:163753174-163753175	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537047278	chr3:163753205-163753206	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163749000-163752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163752600-163754000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163754000-163754400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163754400-163757600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163757600-163758400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163758600-163759400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:163758600-163759400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:163758600-163759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:163759800-163761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:163761400-163761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:163763800-163764000	Enhancers	Placenta	Placenta
13	chr3:163764000-163768000	Weak transcription	Placenta	Placenta
14	chr3:163765800-163766000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:163766000-163766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:163768000-163768200	Enhancers	Placenta	Placenta
17	chr3:163771800-163795600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:163795600-163796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:163796000-163797400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163797400-163798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:163798800-163803400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:163803400-163804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:163804400-163805400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:163805400-163806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:163806800-163811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163811400-163814400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163811800-163814400	Enhancers	Dnd41	blood
28	chr3:163814400-163832200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:163831200-163831600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:163831200-163831600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:163831200-163832000	Enhancers	Dnd41	blood
32	chr3:163832200-163833000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:163833000-163837800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:163837800-163839200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:163839200-163852000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:163841400-163841800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:163841400-163841800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:163841400-163841800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:163841800-163842200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:163848600-163849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:163852000-163854600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:163854600-163862000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:163860000-163861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:163862000-163870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:163863200-163866400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr3:163865800-163867600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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