Variant report

Variant	nsv977401
Chromosome Location	chr13:69782667-69793555
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	E2F4	chr13:69785870-69785881	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr13:69786236-69786418	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr13:69788203-69788543	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr13:69788210-69788542	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:69788343-69788479	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr13:69788204-69788550	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr13:69792733-69792913	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr13:69784976-69785172	SH-SY5Y	brain:	n/a	n/a
9	MAFK	chr13:69791076-69791109	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAFK	chr13:69791134-69791267	HepG2	liver:	n/a	chr13:69791178-69791192 chr13:69791175-69791195 chr13:69791177-69791193
11	MAFK	chr13:69791201-69791214	HepG2	liver:	n/a	n/a
12	POLR2A	chr13:69787516-69788048	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr13:69784081-69784193	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr13:69787496-69788061	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr13:69782281-69782779	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr13:69785312-69785489	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr13:69788290-69788490	MCF10A-Er-Src	breast:	n/a	chr13:69788427-69788438
18	STAT3	chr13:69788350-69788550	MCF10A-Er-Src	breast:	n/a	chr13:69788427-69788438

No.	Distal block	Cell Line	Cell type
1	chr13:69788123..69789818-chr13:69791504..69794154,2	K562	blood:
2	chr13:69788123..69789818-chr13:69791504..69794154,2	K562	blood:
3	chr13:69792364..69793914-chr13:69801146..69804044,2	K562	blood:

Variant related genes	Relation type
LINC00383	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568228476	chr13:69782677-69782678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111691195	chr13:69782695-69782696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375684609	chr13:69782724-69782725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7992183	chr13:69782725-69782726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576518949	chr13:69782731-69782732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545537119	chr13:69782738-69782739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7992374	chr13:69782816-69782817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12871270	chr13:69782842-69782843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565849703	chr13:69782868-69782869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541828845	chr13:69782910-69782911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539977049	chr13:69782928-69782929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561948275	chr13:69782931-69782932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7358906	chr13:69782995-69782996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547611305	chr13:69782998-69782999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570700324	chr13:69783038-69783039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533153868	chr13:69783086-69783087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552361092	chr13:69783109-69783110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569349052	chr13:69783113-69783114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372444362	chr13:69783114-69783115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35048557	chr13:69783115-69783116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397754345	chr13:69783116-69783117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537834809	chr13:69783181-69783182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554973948	chr13:69783186-69783187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185215747	chr13:69783187-69783188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534260527	chr13:69783228-69783229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554051231	chr13:69783229-69783230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188208936	chr13:69783234-69783235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540047811	chr13:69783238-69783239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537410755	chr13:69783280-69783281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556118832	chr13:69783302-69783303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118155209	chr13:69783304-69783305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573081202	chr13:69783313-69783314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180733751	chr13:69783317-69783318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554514185	chr13:69783334-69783335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561713117	chr13:69783344-69783345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572362795	chr13:69783378-69783379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541288284	chr13:69783391-69783392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566425151	chr13:69787611-69787612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182002367	chr13:69787615-69787616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187107508	chr13:69787663-69787664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1591532	chr13:69787680-69787681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552454778	chr13:69787681-69787682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6562560	chr13:69787688-69787689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538063269	chr13:69787691-69787692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190726069	chr13:69787695-69787696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374917674	chr13:69787743-69787744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145685098	chr13:69787766-69787767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557166626	chr13:69787790-69787791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201396416	chr13:69787793-69787794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553452774	chr13:69787796-69787797	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69778200-69783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:69782200-69783000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:69782400-69782800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:69782400-69782800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:69782400-69783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:69782600-69782800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:69782800-69783000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:69783000-69783200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:69787600-69788000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:69788800-69789200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:69789000-69789200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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