Variant report

Variant	nsv526346
Chromosome Location	chr13:93700675-93713120
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	EP300	chr13:93710240-93711209	SK-N-SH	brain:	n/a	n/a
2	EP300	chr13:93710488-93710886	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr13:93710529-93710993	SK-N-SH_RA	brain:	n/a	n/a
4	FOS	chr13:93707268-93707464	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:93707255-93707484	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr13:93710503-93711002	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr13:93700528-93700922	MCF-7	breast:	n/a	chr13:93700755-93700776 chr13:93700762-93700769 chr13:93700759-93700769
8	GATA3	chr13:93710428-93711094	SK-N-SH	brain:	n/a	chr13:93711070-93711077
9	GATA3	chr13:93710513-93710920	SH-SY5Y	brain:	n/a	n/a
10	NR2F2	chr13:93700515-93700845	MCF-7	breast:	n/a	n/a
11	POLR2A	chr13:93707425-93707922	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr13:93710993-93711031	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr13:93707452-93707921	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr13:93710583-93710883	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr13:93709360-93709550	MCF-7	breast:	n/a	n/a
16	POLR2A	chr13:93712447-93712801	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr13:93712414-93712808	H1-neurons	neurons:	n/a	n/a
18	REST	chr13:93712252-93712938	H1-neurons	neurons:	n/a	n/a
19	REST	chr13:93707407-93708021	H1-neurons	neurons:	n/a	n/a
20	REST	chr13:93707352-93708120	H1-neurons	neurons:	n/a	n/a
21	REST	chr13:93712105-93713194	H1-neurons	neurons:	n/a	n/a
22	STAT3	chr13:93711171-93711314	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr13:93707350-93707357	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF12	chr13:93710458-93710976	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-1	chr13:93710012-93710128	XLOC_010471
2	lnc-GPC6-1	chr13:93710012-93710179	XLOC_010471
3	lnc-GPC6-1	chr13:93708910-93708951	XLOC_010471

Variant related genes	Relation type
LINC00363	TF binding region

Extended variants
information (count: 234 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148829567	chr13:93705602-93705603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541051423	chr13:93705612-93705613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563992901	chr13:93705616-93705617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187831068	chr13:93705619-93705620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114866823	chr13:93705620-93705621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75270317	chr13:93705636-93705637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563945197	chr13:93705655-93705656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529524972	chr13:93705663-93705664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369566276	chr13:93705667-93705668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75520377	chr13:93705722-93705723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576719547	chr13:93705733-93705734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142705395	chr13:93705742-93705743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114425297	chr13:93705754-93705755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191654561	chr13:93705788-93705789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567974730	chr13:93706405-93706406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553708616	chr13:93706434-93706435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376990809	chr13:93706545-93706546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571460001	chr13:93706572-93706573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530299190	chr13:93706573-93706574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559572212	chr13:93706602-93706603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3210365	chr13:93706631-93706632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7996591	chr13:93706644-93706645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551476108	chr13:93706679-93706680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111598614	chr13:93706731-93706732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71429505	chr13:93706738-93706739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551087347	chr13:93706762-93706763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532869543	chr13:93706802-93706803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61976291	chr13:93706866-93706867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535614801	chr13:93706868-93706869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117106725	chr13:93706869-93706870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192645373	chr13:93706945-93706946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9516157	chr13:93706961-93706962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534966769	chr13:93707012-93707013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542364664	chr13:93707027-93707028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563336741	chr13:93707055-93707056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577602916	chr13:93707087-93707088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9523901	chr13:93707102-93707103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148795920	chr13:93707114-93707115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562003831	chr13:93707154-93707155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144926689	chr13:93707210-93707211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79985321	chr13:93707242-93707243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545711968	chr13:93707259-93707260	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185423888	chr13:93707261-93707262	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376111351	chr13:93707322-93707323	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs147918476	chr13:93707337-93707338	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533468922	chr13:93707386-93707387	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550016919	chr13:93707417-93707418	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs189544921	chr13:93707512-93707513	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs522506	chr13:93707548-93707549	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549186975	chr13:93707554-93707555	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93705600-93705800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:93706400-93707400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:93707000-93708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:93707400-93707800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:93708600-93710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:93710400-93711800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:93711600-93712000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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