Variant report

Variant	esv3348628
Chromosome Location	chr4:130931552-130933650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79395571	chr4:130931554-130931555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554794787	chr4:130931579-130931580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573033212	chr4:130931587-130931588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540535614	chr4:130931667-130931668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374336652	chr4:130931669-130931670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558783867	chr4:130931676-130931677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576798981	chr4:130931681-130931682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376689373	chr4:130931699-130931700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78818201	chr4:130931700-130931701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149509985	chr4:130931703-130931704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190098371	chr4:130931705-130931706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201874857	chr4:130931738-130931739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181762028	chr4:130931744-130931745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561151527	chr4:130931778-130931779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371168470	chr4:130932608-130932609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201252806	chr4:130932611-130932612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373589365	chr4:130932620-130932621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202162257	chr4:130932621-130932622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185139422	chr4:130932627-130932628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190296429	chr4:130932629-130932630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367722090	chr4:130932639-130932640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372187242	chr4:130932648-130932649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201079453	chr4:130932661-130932662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376790254	chr4:130932666-130932667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368314938	chr4:130932669-130932670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111968069	chr4:130932670-130932671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372562117	chr4:130932676-130932677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375231588	chr4:130932679-130932680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202222258	chr4:130932684-130932685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs70938495	chr4:130932685-130932686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375428835	chr4:130932687-130932688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368595555	chr4:130932695-130932696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200286527	chr4:130932697-130932698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573132883	chr4:130932717-130932718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540798192	chr4:130932719-130932720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565483467	chr4:130932742-130932743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201227724	chr4:130932743-130932744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532828872	chr4:130932756-130932757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147855563	chr4:130932777-130932778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562873943	chr4:130932780-130932781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530086991	chr4:130932784-130932785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140688945	chr4:130932788-130932789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534027427	chr4:130932796-130932797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376549622	chr4:130932823-130932824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570517406	chr4:130932824-130932825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369441452	chr4:130932848-130932849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555881776	chr4:130932895-130932896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538041010	chr4:130932898-130932899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556158109	chr4:130932933-130932934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575836167	chr4:130932937-130932938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130931000-130931800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr4:130932600-130945000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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