Variant report

Variant	esv3395372
Chromosome Location	chr3:43056498-43059296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541591318	chr3:43056509-43056510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561453668	chr3:43056537-43056538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530358254	chr3:43056738-43056739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540924880	chr3:43056745-43056746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560772152	chr3:43056746-43056747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532509600	chr3:43056748-43056749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552555544	chr3:43056749-43056750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569223472	chr3:43056752-43056753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139267187	chr3:43056761-43056762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548427325	chr3:43056773-43056774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567901072	chr3:43056782-43056783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533781386	chr3:43056854-43056855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564475601	chr3:43056892-43056893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553601450	chr3:43056898-43056899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531925751	chr3:43056902-43056903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539036999	chr3:43056925-43056926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144161734	chr3:43056961-43056962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62247061	chr3:43057085-43057086	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186581316	chr3:43057107-43057108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146038784	chr3:43057109-43057110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191832202	chr3:43057112-43057113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560735378	chr3:43057171-43057172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532861354	chr3:43057184-43057185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546207637	chr3:43057227-43057228	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562884768	chr3:43057262-43057263	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200661848	chr3:43057277-43057278	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184853155	chr3:43057288-43057289	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548271609	chr3:43057333-43057334	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568215283	chr3:43057336-43057337	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573001361	chr3:43057421-43057422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568673073	chr3:43057429-43057430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374051212	chr3:43057432-43057433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527441842	chr3:43057466-43057467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142832352	chr3:43057531-43057532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570342035	chr3:43057612-43057613	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62247062	chr3:43057614-43057615	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549850365	chr3:43057616-43057617	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151035271	chr3:43057621-43057622	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535111321	chr3:43057636-43057637	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555463688	chr3:43057648-43057649	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572189908	chr3:43057649-43057650	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534360441	chr3:43057655-43057656	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189997041	chr3:43057656-43057657	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577396838	chr3:43057658-43057659	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546465172	chr3:43057660-43057661	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563084817	chr3:43057667-43057668	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576338854	chr3:43057671-43057672	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370441337	chr3:43057672-43057673	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541830492	chr3:43057793-43057794	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561811214	chr3:43057842-43057843	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43048200-43056800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:43053000-43057800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
3	chr3:43053200-43060600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:43053400-43059400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
5	chr3:43053600-43073200	Weak transcription	Right Atrium	heart
6	chr3:43053800-43058600	ZNF genes & repeats	Fetal Thymus	thymus
7	chr3:43054000-43058200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr3:43054200-43058800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
9	chr3:43054200-43058800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr3:43054200-43059000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
11	chr3:43054400-43057200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr3:43054400-43058400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:43054400-43058600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr3:43054400-43058800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:43054400-43058800	ZNF genes & repeats	Dnd41	blood
16	chr3:43054600-43057200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr3:43054600-43061600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:43054800-43058200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:43056800-43057200	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr3:43057000-43058000	ZNF genes & repeats	Spleen	Spleen
21	chr3:43057200-43057400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:43057200-43057600	Weak transcription	Primary T cells from cord blood	blood
23	chr3:43057400-43058000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:43057600-43058400	Enhancers	Primary T cells from cord blood	blood
25	chr3:43058000-43058400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:43058000-43059600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr3:43058400-43059800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:43058400-43061400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:43058600-43061000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:43058800-43059800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:43058800-43060200	Weak transcription	Thymus	Thymus
32	chr3:43058800-43060600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:43058800-43061000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:43058800-43061400	Weak transcription	Dnd41	blood
35	chr3:43059000-43059400	Enhancers	Esophagus	oesophagus
36	chr3:43059200-43059600	ZNF genes & repeats	Lung	lung

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