Variant report

Variant	esv1002056
Chromosome Location	chr3:191267312-191275247
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	BHLHE40	chr3:191267361-191267367	GM12878	blood:	n/a	n/a
2	JUN	chr3:191273053-191273341	HepG2	liver:	n/a	chr3:191273169-191273178 chr3:191273119-191273132 chr3:191273135-191273144 chr3:191273168-191273181
3	JUND	chr3:191273040-191273307	HepG2	liver:	n/a	chr3:191273169-191273178 chr3:191273135-191273144
4	REST	chr3:191275045-191275557	HL-60	blood:	n/a	n/a
5	REST	chr3:191275122-191275523	PFSK-1	brain:	n/a	n/a
6	REST	chr3:191275146-191275416	SK-N-SH	brain:	n/a	n/a
7	REST	chr3:191275135-191275400	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr3:191275231-191275433	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr3:191275187-191275469	PFSK-1	brain:	n/a	n/a
10	REST	chr3:191275075-191275464	PFSK-1	brain:	n/a	n/a
11	REST	chr3:191275207-191275401	PFSK-1	brain:	n/a	n/a
12	REST	chr3:191275113-191275408	HL-60	blood:	n/a	n/a
13	REST	chr3:191275204-191275371	Hela-S3	cervix:	n/a	n/a
14	SPI1	chr3:191267275-191267448	GM12878	blood:	n/a	chr3:191267318-191267331
15	SPI1	chr3:191267167-191267545	GM12891	blood:	n/a	chr3:191267318-191267331
16	SPI1	chr3:191267165-191267496	GM12878	blood:	n/a	chr3:191267318-191267331
17	SPI1	chr3:191267225-191267475	GM12891	blood:	n/a	chr3:191267318-191267331

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PYDC2-1	chr3:191274951-191275173	NONHSAT093969
2	lnc-PYDC2-1	chr3:191274952-191275173	XLOC_002968
3	lnc-PYDC2-1	chr3:191275113-191275173	XLOC_002968
4	lnc-PYDC2-1	chr3:191274952-191275173	XLOC_002968

Variant related genes	Relation type
ENSG00000223812	TF binding region
ATP11C	miRNA target sites

Extended variants
information (count: 259 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115921219	chr3:191268205-191268206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200414493	chr3:191268209-191268210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542262718	chr3:191268237-191268238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558770445	chr3:191268258-191268259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562128893	chr3:191268268-191268269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192532074	chr3:191268273-191268274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544724872	chr3:191268294-191268295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4687220	chr3:191268300-191268301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113955685	chr3:191268355-191268356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527502147	chr3:191268382-191268383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9823833	chr3:191268398-191268399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567493970	chr3:191268423-191268424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376435849	chr3:191268476-191268477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200050390	chr3:191268479-191268480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561187160	chr3:191268577-191268578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569292675	chr3:191268579-191268580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538215973	chr3:191268583-191268584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201013687	chr3:191268620-191268621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571675127	chr3:191268648-191268649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534169738	chr3:191268713-191268714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554340142	chr3:191268775-191268776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185637656	chr3:191268825-191268826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536562942	chr3:191268955-191268956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556412324	chr3:191268981-191268982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575633899	chr3:191268983-191268984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544563317	chr3:191268998-191268999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201861050	chr3:191269092-191269093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564869391	chr3:191269209-191269210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71635003	chr3:191269235-191269236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540893110	chr3:191269268-191269269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529977994	chr3:191269319-191269320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6444554	chr3:191269422-191269423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529818149	chr3:191269451-191269452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550124122	chr3:191269468-191269469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563530085	chr3:191269474-191269475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112715915	chr3:191269492-191269493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202058424	chr3:191269494-191269495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531749878	chr3:191269549-191269550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551791853	chr3:191269584-191269585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571697298	chr3:191269585-191269586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6777316	chr3:191269634-191269635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547540326	chr3:191269653-191269654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567870975	chr3:191269670-191269671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28564996	chr3:191269793-191269794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556448216	chr3:191269806-191269807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28485293	chr3:191269827-191269828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552285010	chr3:191269845-191269846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6777585	chr3:191269870-191269871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112083633	chr3:191269878-191269879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188912313	chr3:191269884-191269885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191268200-191270400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:191270400-191271200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:191271200-191274600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:191272400-191301400	Weak transcription	K562	blood
5	chr3:191272800-191273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:191273000-191273600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:191274600-191275400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr3:191274600-191276200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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