Variant report

Variant	nsv442915
Chromosome Location	chr4:106942927-106946435
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	CTCF	chr4:106943400-106943550	GM12873	blood:	n/a	n/a
2	CTCF	chr4:106945040-106945190	GM12875	blood:	n/a	n/a
3	MAFF	chr4:106945491-106945654	HepG2	liver:	n/a	chr4:106945610-106945628
4	MAFK	chr4:106945487-106945756	HepG2	liver:	n/a	chr4:106945613-106945633
5	MAFK	chr4:106945461-106945745	HepG2	liver:	n/a	chr4:106945613-106945633
6	POLR2A	chr4:106944598-106944723	GM12878	blood:	n/a	n/a
7	RCOR1	chr4:106942989-106943240	K562	blood:	n/a	n/a
8	TEAD4	chr4:106942917-106943280	K562	blood:	n/a	n/a
9	TEAD4	chr4:106942906-106943182	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCK-1	chr4:106940966-106943635	XLOC_004040

Variant related genes	Relation type
ENSG00000249635	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570469510	chr4:106942959-106942960	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs539377893	chr4:106942964-106942965	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371027795	chr4:106943041-106943042	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549369273	chr4:106943145-106943146	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs11725254	chr4:106943155-106943156	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535735308	chr4:106943194-106943195	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11729561	chr4:106943200-106943201	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572575665	chr4:106943243-106943244	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs534930922	chr4:106943245-106943246	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs193251163	chr4:106943257-106943258	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570528756	chr4:106943276-106943277	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185332017	chr4:106943333-106943334	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs534673363	chr4:106943359-106943360	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs140736797	chr4:106943429-106943430	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574123684	chr4:106943463-106943464	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542130294	chr4:106943469-106943470	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561992502	chr4:106943486-106943487	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs188975224	chr4:106943496-106943497	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs570016678	chr4:106943522-106943523	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547282485	chr4:106943533-106943534	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564160968	chr4:106943603-106943604	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs181381329	chr4:106943617-106943618	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs532880202	chr4:106943649-106943650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553396299	chr4:106943651-106943652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144594038	chr4:106943687-106943688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569293172	chr4:106943720-106943721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535107018	chr4:106943804-106943805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184077968	chr4:106943860-106943861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566261070	chr4:106943867-106943868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535896726	chr4:106943885-106943886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535181112	chr4:106943946-106943947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188418862	chr4:106943979-106943980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578157527	chr4:106943980-106943981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76774465	chr4:106943981-106943982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557526386	chr4:106943982-106943983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180974109	chr4:106944000-106944001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148186497	chr4:106944016-106944017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561975425	chr4:106944040-106944041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572254415	chr4:106944062-106944063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186063857	chr4:106944081-106944082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28394440	chr4:106944126-106944127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs534883230	chr4:106944213-106944214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192090002	chr4:106944255-106944256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372115881	chr4:106944288-106944289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141159754	chr4:106944305-106944306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182420813	chr4:106944410-106944411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528825932	chr4:106944475-106944476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535712897	chr4:106944516-106944517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186291270	chr4:106944523-106944524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80116384	chr4:106944581-106944582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106935000-106948400	Weak transcription	Aorta	Aorta
2	chr4:106940400-106943000	Enhancers	HSMMtube	muscle
3	chr4:106941000-106943200	Enhancers	Fetal Heart	heart
4	chr4:106941000-106944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:106941200-106944400	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:106941400-106943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:106942800-106943400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:106943000-106943800	Enhancers	Left Ventricle	heart
9	chr4:106943000-106945400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:106943200-106943600	Flanking Active TSS	Fetal Heart	heart
11	chr4:106943400-106944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:106943600-106944400	Enhancers	Fetal Heart	heart
13	chr4:106945400-106945600	ZNF genes & repeats	Fetal Intestine Small	intestine

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