Variant report

Variant	nsv900416
Chromosome Location	chr13:67918492-68004708
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	ARID3A	chr13:67957650-67957867	HepG2	liver:	n/a	n/a
2	ATF2	chr13:67990402-67990747	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr13:67940874-67940875	GM12878	blood:	n/a	n/a
4	BHLHE40	chr13:67981208-67981213	GM12878	blood:	n/a	n/a
5	BHLHE40	chr13:67957539-67957853	HepG2	liver:	n/a	n/a
6	BRCA1	chr13:67941712-67941854	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr13:67987937-67987951	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr13:67983041-67983303	ECC-1	luminal epithelium:	n/a	chr13:67983192-67983203
9	CEBPB	chr13:67926095-67926421	HepG2	liver:	n/a	chr13:67926245-67926256
10	CEBPB	chr13:67952124-67952426	Hela-S3	cervix:	n/a	chr13:67952260-67952271
11	CEBPB	chr13:67925346-67925624	HepG2	liver:	n/a	chr13:67925441-67925450 chr13:67925439-67925450 chr13:67925441-67925450 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925377-67925388
12	CEBPB	chr13:67983018-67983330	HepG2	liver:	n/a	chr13:67983192-67983203
13	CEBPB	chr13:67952159-67952428	H1-hESC	embryonic stem cell:	n/a	chr13:67952260-67952271
14	CEBPB	chr13:67933103-67933363	IMR90	lung:	n/a	chr13:67933196-67933205 chr13:67933194-67933205
15	CEBPB	chr13:67926070-67926419	IMR90	lung:	n/a	chr13:67926245-67926256
16	CEBPB	chr13:67925381-67925480	Hela-S3	cervix:	n/a	chr13:67925441-67925450 chr13:67925439-67925450 chr13:67925441-67925450 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925441-67925450 chr13:67925439-67925452
17	CEBPB	chr13:67957560-67957902	HepG2	liver:	n/a	n/a
18	CEBPB	chr13:67933072-67933331	A549	lung:	n/a	chr13:67933196-67933205 chr13:67933194-67933205
19	CEBPB	chr13:67933047-67933298	HepG2	liver:	n/a	chr13:67933196-67933205 chr13:67933194-67933205
20	CEBPB	chr13:67926113-67926355	Hela-S3	cervix:	n/a	chr13:67926245-67926256
21	CEBPB	chr13:67925274-67925615	K562	blood:	n/a	chr13:67925441-67925450 chr13:67925439-67925450 chr13:67925441-67925450 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925377-67925388
22	CEBPB	chr13:67944123-67944438	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr13:67926161-67926331	K562	blood:	n/a	chr13:67926245-67926256
24	CEBPB	chr13:67983070-67983316	A549	lung:	n/a	chr13:67983192-67983203
25	CEBPB	chr13:67982954-67983392	ECC-1	luminal epithelium:	n/a	chr13:67983192-67983203
26	CEBPB	chr13:67983010-67983379	HepG2	liver:	n/a	chr13:67983192-67983203
27	CEBPB	chr13:67957573-67957884	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr13:67925283-67925549	A549	lung:	n/a	chr13:67925441-67925450 chr13:67925439-67925450 chr13:67925441-67925450 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925377-67925388
29	CEBPB	chr13:67944093-67944468	IMR90	lung:	n/a	n/a
30	CEBPB	chr13:67952103-67952421	HepG2	liver:	n/a	chr13:67952260-67952271
31	CEBPB	chr13:67941312-67941520	IMR90	lung:	n/a	chr13:67941396-67941409 chr13:67941398-67941409
32	CEBPB	chr13:67957598-67957798	K562	blood:	n/a	n/a
33	CEBPB	chr13:67983079-67983282	HepG2	liver:	n/a	chr13:67983192-67983203
34	CEBPB	chr13:67969852-67970145	HepG2	liver:	n/a	n/a
35	CEBPB	chr13:67925266-67925623	IMR90	lung:	n/a	chr13:67925441-67925450 chr13:67925439-67925450 chr13:67925441-67925450 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925441-67925450 chr13:67925439-67925452 chr13:67925377-67925388
36	CEBPB	chr13:67957646-67957798	IMR90	lung:	n/a	n/a
37	CEBPB	chr13:67952079-67952395	K562	blood:	n/a	chr13:67952260-67952271
38	CEBPB	chr13:67957692-67957878	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr13:67952150-67952336	A549	lung:	n/a	chr13:67952260-67952271
40	CEBPB	chr13:67957575-67957884	A549	lung:	n/a	n/a
41	CEBPB	chr13:67952091-67952396	IMR90	lung:	n/a	chr13:67952260-67952271
42	CEBPB	chr13:67983067-67983281	H1-hESC	embryonic stem cell:	n/a	chr13:67983192-67983203
43	CTCF	chr13:67940740-67940890	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr13:67940760-67940910	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr13:67990508-67990757	Fibrobl	skin:	n/a	n/a
46	CTCF	chr13:67990520-67990670	GM06990	blood:	n/a	n/a
47	CTCF	chr13:67940800-67940950	BJ	skin:	n/a	n/a
48	CTCF	chr13:67990580-67990730	WI-38	lung:	n/a	n/a
49	CTCF	chr13:67979944-67979999	ProgFib	skin:	n/a	n/a
50	CTCF	chr13:67977002-67977266	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:67919389..67921263-chr13:67925624..67927193,2	MCF-7	breast:
2	chr13:67649311..67650094-chr13:67990535..67991084,2	MCF-7	breast:
3	chr13:67919389..67921263-chr13:67925624..67927193,2	MCF-7	breast:

Variant related genes	Relation type
LINC00364	TF binding region

Extended variants
information (count: 1158 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545679915	chr13:67921201-67921202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534067492	chr13:67921231-67921232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527467266	chr13:67921241-67921242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77925634	chr13:67921242-67921243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113220103	chr13:67921244-67921245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34868532	chr13:67921250-67921251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532840397	chr13:67921262-67921263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146021345	chr13:67921263-67921264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1889351	chr13:67921269-67921270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535438645	chr13:67921285-67921286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555759920	chr13:67921297-67921298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139959456	chr13:67921321-67921322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535043242	chr13:67921354-67921355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558362205	chr13:67921380-67921381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187149491	chr13:67921404-67921405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578236999	chr13:67921413-67921414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537534029	chr13:67921416-67921417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557500179	chr13:67921423-67921424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573904158	chr13:67921429-67921430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73515436	chr13:67921444-67921445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377099669	chr13:67921450-67921451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561799333	chr13:67921453-67921454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191180438	chr13:67921502-67921503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112020425	chr13:67921555-67921556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563934429	chr13:67921577-67921578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532997971	chr13:67921607-67921608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185515354	chr13:67921676-67921677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189573811	chr13:67921677-67921678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575619052	chr13:67921726-67921727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374587007	chr13:67921727-67921728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548950666	chr13:67921739-67921740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552868441	chr13:67924454-67924455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573122053	chr13:67924512-67924513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190088329	chr13:67924603-67924604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558691820	chr13:67924641-67924642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377255741	chr13:67924748-67924749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs437614	chr13:67924763-67924764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201109069	chr13:67924824-67924825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373518008	chr13:67924841-67924842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543884795	chr13:67924863-67924864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75617333	chr13:67924891-67924892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575012385	chr13:67924892-67924893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540970146	chr13:67924896-67924897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185347011	chr13:67924927-67924928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140933795	chr13:67924963-67924964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs207473954	chr13:67924998-67924999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552206557	chr13:67924999-67925000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190204682	chr13:67925018-67925019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554590592	chr13:67925023-67925024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531697620	chr13:67925098-67925099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67921200-67921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:67924400-67927200	Weak transcription	HSMM	muscle
3	chr13:67925800-67927800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:67926000-67926200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:67926200-67928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:67927200-67928000	Enhancers	HSMM	muscle
7	chr13:67927400-67927800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:67927800-67928000	Enhancers	Hela-S3	cervix
9	chr13:67927800-67928000	Enhancers	Osteobl	bone
10	chr13:67927800-67928200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:67927800-67928800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr13:67928000-67928200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:67928000-67928200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:67928000-67928200	Flanking Active TSS	Hela-S3	cervix
15	chr13:67928000-67928400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:67928000-67928400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:67928000-67928400	Active TSS	Adipose Nuclei	Adipose
18	chr13:67928000-67928400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr13:67928000-67928400	Active TSS	Stomach Smooth Muscle	stomach
20	chr13:67928000-67928400	Flanking Active TSS	HSMM	muscle
21	chr13:67928000-67928400	Active TSS	HSMMtube	muscle
22	chr13:67928000-67928400	Active TSS	NHDF-Ad	bronchial
23	chr13:67928000-67928400	Active TSS	Osteobl	bone
24	chr13:67928000-67928600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:67928000-67928600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:67928200-67928400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:67928200-67928400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:67928200-67928400	Enhancers	Rectal Smooth Muscle	rectum
29	chr13:67928200-67928400	Active TSS	Hela-S3	cervix
30	chr13:67928200-67928600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:67928200-67928600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:67928400-67928600	Flanking Active TSS	Osteobl	bone
33	chr13:67928400-67928800	Enhancers	HSMM	muscle
34	chr13:67928600-67928800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:67928600-67928800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:67928800-67929000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:67929000-67930000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:67930000-67930200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:67930000-67930400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:67930000-67930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:67930000-67930600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr13:67930000-67931000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:67931600-67932400	Active TSS	K562	blood
44	chr13:67940600-67940800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:67940800-67942800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr13:67941400-67941800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:67941600-67941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:67941800-67943000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:67941800-67943000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:67942200-67944000	Enhancers	HSMM	muscle

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