Variant report

Variant	esv2762459
Chromosome Location	chr4:118850266-118869209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 71 )

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	rs199909550	chr4:118861206-118861207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566713212	chr4:118861216-118861217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9884363	chr4:118861217-118861218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201879401	chr4:118861222-118861223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373394101	chr4:118861255-118861256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569273320	chr4:118861287-118861288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537926034	chr4:118861290-118861291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557964222	chr4:118861305-118861306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112540409	chr4:118861312-118861313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190409626	chr4:118861319-118861320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533010917	chr4:118861362-118861363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182114460	chr4:118861366-118861367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554044927	chr4:118861376-118861377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573362195	chr4:118861383-118861384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574231324	chr4:118861419-118861420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141900197	chr4:118861426-118861427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150764579	chr4:118861461-118861462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138036831	chr4:118861532-118861533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575280309	chr4:118861540-118861541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544317247	chr4:118861566-118861567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564323169	chr4:118861594-118861595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533164583	chr4:118861647-118861648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540389994	chr4:118861664-118861665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560204127	chr4:118861710-118861711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529160334	chr4:118861713-118861714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186810461	chr4:118861759-118861760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373934238	chr4:118861801-118861802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192102785	chr4:118861802-118861803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375110795	chr4:118861816-118861817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76103569	chr4:118861869-118861870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76613971	chr4:118861961-118861962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571357790	chr4:118861975-118861976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540319994	chr4:118862025-118862026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559927595	chr4:118862034-118862035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183927746	chr4:118862037-118862038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186760729	chr4:118862055-118862056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190044306	chr4:118862063-118862064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139801175	chr4:118862098-118862099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550934171	chr4:118862134-118862135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555111249	chr4:118862161-118862162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575311289	chr4:118862197-118862198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537797366	chr4:118862200-118862201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557896030	chr4:118862203-118862204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577779802	chr4:118862209-118862210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182607317	chr4:118862238-118862239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111297690	chr4:118862398-118862399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528860784	chr4:118862445-118862446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369271002	chr4:118862474-118862475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187308154	chr4:118862477-118862478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143201497	chr4:118862481-118862482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118861200-118862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:118862400-118863000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:118862400-118863200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:118862400-118863200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:118862400-118863400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:118862600-118863200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:118862600-118863200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:118862600-118863400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:118862600-118863400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:118862600-118863400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:118862600-118863400	Enhancers	Dnd41	blood
12	chr4:118862800-118863400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:118862800-118863400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:118863000-118863200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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