Variant report

Variant	esv3400242
Chromosome Location	chr4:103154579-103157077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116028500	chr4:103154580-103154581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371259651	chr4:103154581-103154582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554985488	chr4:103154598-103154599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559687176	chr4:103155037-103155038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114833788	chr4:103155064-103155065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184330124	chr4:103155068-103155069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560409567	chr4:103155074-103155075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527681998	chr4:103155109-103155110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375982215	chr4:103155162-103155163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147719325	chr4:103155164-103155165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551193900	chr4:103155179-103155180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189225298	chr4:103155195-103155196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530382511	chr4:103155226-103155227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs366374	chr4:103155227-103155228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554041868	chr4:103155258-103155259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534040651	chr4:103155259-103155260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs380768	chr4:103155276-103155277	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs570851948	chr4:103155323-103155324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537678939	chr4:103155339-103155340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570384549	chr4:103155364-103155365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574410369	chr4:103155366-103155367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535340193	chr4:103155370-103155371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192778464	chr4:103155383-103155384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571966507	chr4:103155405-103155406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545960031	chr4:103155454-103155455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546760179	chr4:103155485-103155486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564254893	chr4:103155499-103155500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs430589	chr4:103155500-103155501	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544834267	chr4:103155511-103155512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1968543	chr4:103155520-103155521	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530417143	chr4:103155537-103155538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142466397	chr4:103155538-103155539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560613429	chr4:103155551-103155552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527730979	chr4:103155555-103155556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs72690448	chr4:103155567-103155568	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570960571	chr4:103155602-103155603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569146019	chr4:103155612-103155613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111401942	chr4:103155616-103155617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368266469	chr4:103155636-103155637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2119211	chr4:103155652-103155653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567868069	chr4:103155660-103155661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34764322	chr4:103155663-103155664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535374468	chr4:103155685-103155686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149794872	chr4:103155696-103155697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572250303	chr4:103155716-103155717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558009828	chr4:103155736-103155737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs463721	chr4:103155765-103155766	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs456877	chr4:103155773-103155774	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs576224889	chr4:103155782-103155783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543493118	chr4:103155788-103155789	ZNF genes & repeats	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103153800-103154600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:103154200-103154600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:103155000-103155800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:103155000-103156000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:103155400-103156000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:103156000-103170200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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