Variant report

Variant	esv9744
Chromosome Location	chr4:81508721-81509954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74766206	chr4:81508744-81508745	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs13104446	chr4:81508745-81508746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs543347242	chr4:81508774-81508775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs144478769	chr4:81508785-81508786	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs146608744	chr4:81508795-81508796	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs28494703	chr4:81508800-81508801	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530408046	chr4:81508806-81508807	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545610030	chr4:81508832-81508833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs141329709	chr4:81508850-81508851	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs114892338	chr4:81509021-81509022	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs143740747	chr4:81509054-81509055	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs560551540	chr4:81509072-81509073	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs529907522	chr4:81509096-81509097	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs145759898	chr4:81509104-81509105	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs183233780	chr4:81509107-81509108	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs538435881	chr4:81509118-81509119	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs552397544	chr4:81509146-81509147	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs148936721	chr4:81509166-81509167	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs1385889	chr4:81509175-81509176	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs1385888	chr4:81509178-81509179	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs567056559	chr4:81509210-81509211	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546598842	chr4:81509219-81509220	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs537561869	chr4:81509229-81509230	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs371365522	chr4:81509304-81509305	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs538755348	chr4:81509316-81509317	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs551958670	chr4:81509334-81509335	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs111602735	chr4:81509352-81509353	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189240101	chr4:81509359-81509360	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs376281866	chr4:81509373-81509374	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs568838541	chr4:81509401-81509402	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs116001964	chr4:81509449-81509450	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs1872576	chr4:81509452-81509453	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565482181	chr4:81509486-81509487	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs574692079	chr4:81509548-81509549	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373830184	chr4:81509551-81509552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs113669937	chr4:81509552-81509553	Bivalent Enhancer	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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81502200-81509000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:81508000-81509000	Enhancers	Fetal Kidney	kidney
3	chr4:81508400-81509600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:81508600-81509400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:81508800-81509000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:81508800-81509000	Enhancers	HMEC	breast
7	chr4:81508800-81509200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:81508800-81509200	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:81509000-81509200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:81509000-81509200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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