Variant report

Variant	nsv1050865
Chromosome Location	chr13:67938796-67965130
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	BHLHE40	chr13:67957539-67957853	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:67940874-67940875	GM12878	blood:	n/a	n/a
4	BRCA1	chr13:67941712-67941854	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr13:67957692-67957878	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr13:67952150-67952336	A549	lung:	n/a	chr13:67952260-67952271
7	CEBPB	chr13:67952091-67952396	IMR90	lung:	n/a	chr13:67952260-67952271
8	CEBPB	chr13:67957575-67957884	A549	lung:	n/a	n/a
9	CEBPB	chr13:67952103-67952421	HepG2	liver:	n/a	chr13:67952260-67952271
10	CEBPB	chr13:67957560-67957902	HepG2	liver:	n/a	n/a
11	CEBPB	chr13:67952079-67952395	K562	blood:	n/a	chr13:67952260-67952271
12	CEBPB	chr13:67941312-67941520	IMR90	lung:	n/a	chr13:67941396-67941409 chr13:67941398-67941409
13	CEBPB	chr13:67952124-67952426	Hela-S3	cervix:	n/a	chr13:67952260-67952271
14	CEBPB	chr13:67957646-67957798	IMR90	lung:	n/a	n/a
15	CEBPB	chr13:67957573-67957884	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr13:67944123-67944438	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr13:67957598-67957798	K562	blood:	n/a	n/a
18	CEBPB	chr13:67944093-67944468	IMR90	lung:	n/a	n/a
19	CEBPB	chr13:67952159-67952428	H1-hESC	embryonic stem cell:	n/a	chr13:67952260-67952271
20	CTCF	chr13:67940440-67940590	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr13:67940760-67940910	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr13:67940700-67940850	AG04449	skin:	n/a	n/a
23	CTCF	chr13:67940740-67940890	RPTEC	kidney:	n/a	n/a
24	CTCF	chr13:67940780-67940930	BE2_C	brain:	n/a	n/a
25	CTCF	chr13:67940784-67940946	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr13:67940840-67940990	HMF	breast:	n/a	n/a
27	CTCF	chr13:67940840-67940990	HFF	foreskin:	n/a	n/a
28	CTCF	chr13:67940760-67940910	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr13:67940860-67941010	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:67940810-67940815	LNCaP	prostate:	n/a	n/a
31	CTCF	chr13:67940700-67940850	AG04450	lung:	n/a	n/a
32	CTCF	chr13:67940740-67940890	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr13:67940858-67940913	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:67940820-67940970	HL-60	blood:	n/a	n/a
35	CTCF	chr13:67940829-67940909	K562	blood:	n/a	n/a
36	CTCF	chr13:67940780-67940930	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr13:67940700-67940850	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr13:67940780-67940930	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr13:67940800-67940950	GM12866	blood:	n/a	n/a
40	CTCF	chr13:67940780-67940930	HMEC	breast:	n/a	n/a
41	CTCF	chr13:67940800-67940950	BE2_C	brain:	n/a	n/a
42	CTCF	chr13:67940832-67941032	K562	blood:	n/a	n/a
43	CTCF	chr13:67940816-67940923	LNCaP	prostate:	n/a	n/a
44	CTCF	chr13:67940780-67941050	WI-38	lung:	n/a	n/a
45	CTCF	chr13:67940740-67940890	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr13:67940840-67940990	GM12869	blood:	n/a	n/a
47	CTCF	chr13:67940680-67940830	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr13:67940880-67941030	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr13:67940841-67940915	HepG2	liver:	n/a	n/a
50	CTCF	chr13:67940823-67940930	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
LINC00364	TF binding region

Extended variants
information (count: 702 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191399010	chr13:67940601-67940602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564499128	chr13:67940616-67940617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9599218	chr13:67940690-67940691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182784044	chr13:67940716-67940717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185510318	chr13:67940746-67940747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189574185	chr13:67940764-67940765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532017152	chr13:67940849-67940850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571038062	chr13:67940875-67940876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78589609	chr13:67940914-67940915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151235697	chr13:67940922-67940923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530525503	chr13:67941017-67941018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550511211	chr13:67941019-67941020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568629911	chr13:67941060-67941061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570302098	chr13:67941184-67941185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1334234	chr13:67941185-67941186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566037481	chr13:67941227-67941228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140450974	chr13:67941270-67941271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182268851	chr13:67941295-67941296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533923562	chr13:67941296-67941297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577061937	chr13:67941332-67941333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9541085	chr13:67941343-67941344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150420029	chr13:67941464-67941465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61513675	chr13:67941479-67941480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138231443	chr13:67941530-67941531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541500270	chr13:67941630-67941631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187706131	chr13:67941644-67941645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4884728	chr13:67941655-67941656	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540646412	chr13:67941673-67941674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192669259	chr13:67941697-67941698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533446863	chr13:67941706-67941707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550504621	chr13:67941730-67941731	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574722648	chr13:67941731-67941732	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs11618535	chr13:67941735-67941736	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9571773	chr13:67941793-67941794	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529533419	chr13:67941813-67941814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs35520771	chr13:67941835-67941836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549633444	chr13:67941991-67941992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141312997	chr13:67942049-67942050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535167357	chr13:67942051-67942052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551476424	chr13:67942069-67942070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571626160	chr13:67942094-67942095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370511661	chr13:67942107-67942108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111695341	chr13:67942111-67942112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36055746	chr13:67942112-67942113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60211844	chr13:67942113-67942114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112085607	chr13:67942114-67942115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372162855	chr13:67942128-67942129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575800940	chr13:67942143-67942144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371223026	chr13:67942162-67942163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535253082	chr13:67942197-67942198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67940600-67940800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr13:67940800-67942800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:67941400-67941800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:67941600-67941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:67941800-67943000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:67941800-67943000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:67942200-67944000	Enhancers	HSMM	muscle
8	chr13:67942800-67947600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:67943000-67943400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:67943000-67943400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:67943000-67943400	Enhancers	Brain Cingulate Gyrus	brain
12	chr13:67943000-67944200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:67943000-67944600	Enhancers	HSMMtube	muscle
14	chr13:67943200-67943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:67943200-67944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:67943200-67945200	Enhancers	NH-A	brain
17	chr13:67943200-67945200	Enhancers	Osteobl	bone
18	chr13:67943400-67944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:67943400-67946600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:67943400-67956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:67943600-67945000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:67943600-67945200	Enhancers	Fetal Heart	heart
23	chr13:67943800-67944600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:67943800-67944800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:67944000-67945000	Weak transcription	HSMM	muscle
26	chr13:67944200-67945200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:67945000-67945200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:67945000-67945400	Enhancers	HSMM	muscle
29	chr13:67945200-67945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:67945200-67945400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr13:67945200-67946400	Weak transcription	NH-A	brain
32	chr13:67945400-67945800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:67945600-67946800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:67945800-67946200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:67946400-67946600	Enhancers	NH-A	brain
36	chr13:67946600-67947400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:67946600-67947400	Enhancers	HMEC	breast
38	chr13:67946600-67947600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:67946600-67947600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:67946600-67947600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:67946600-67948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:67946600-67948000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr13:67946800-67947400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:67947000-67947600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:67947000-67947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr13:67947000-67947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr13:67953000-67957000	Weak transcription	Right Atrium	heart
48	chr13:67955000-67955200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr13:67955000-67955200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:67955000-67955400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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