Variant report

Variant	esv3417398
Chromosome Location	chr4:106835356-106835768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139863911	chr4:106835358-106835359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534020872	chr4:106835373-106835374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372854945	chr4:106835389-106835390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2903387	chr4:106835392-106835393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558646935	chr4:106835448-106835449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189395134	chr4:106835450-106835451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547616966	chr4:106835524-106835525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141207839	chr4:106835526-106835527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28612585	chr4:106835528-106835529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111858907	chr4:106835530-106835531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192421775	chr4:106835532-106835533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535099120	chr4:106835534-106835535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555081668	chr4:106835539-106835540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571821000	chr4:106835540-106835541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373699024	chr4:106835569-106835570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548541291	chr4:106835578-106835579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534318619	chr4:106835579-106835580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540682253	chr4:106835593-106835594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570317987	chr4:106835608-106835609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150316171	chr4:106835637-106835638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116328645	chr4:106835639-106835640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79024546	chr4:106835641-106835642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184422419	chr4:106835649-106835650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114127842	chr4:106835659-106835660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555388864	chr4:106835676-106835677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72968669	chr4:106835679-106835680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373315089	chr4:106835739-106835740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559736730	chr4:106835740-106835741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106818000-106844800	Weak transcription	Psoas Muscle	Psoas
2	chr4:106819200-106836200	Weak transcription	Aorta	Aorta
3	chr4:106819200-106844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:106821800-106844000	Weak transcription	HSMMtube	muscle
5	chr4:106822000-106836200	Weak transcription	Pancreas	Pancrea
6	chr4:106823800-106836400	Weak transcription	Fetal Lung	lung
7	chr4:106824600-106837400	Weak transcription	Small Intestine	intestine
8	chr4:106826200-106845000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:106831400-106835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:106831400-106836000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:106831400-106836000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:106831400-106836200	Weak transcription	Fetal Heart	heart
13	chr4:106831600-106878200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:106833400-106835800	Weak transcription	Fetal Intestine Large	intestine
15	chr4:106833400-106837200	Weak transcription	Fetal Intestine Small	intestine

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