Variant report

Variant	esv18139
Chromosome Location	chr3:43053229-43059805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43044130..43046332-chr3:43052045..43054420,2	K562	blood:
2	chr3:43034015..43036894-chr3:43051666..43054452,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13072197	chr3:43053236-43053237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13072198	chr3:43053237-43053238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13072651	chr3:43053258-43053259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13095179	chr3:43053271-43053272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556263014	chr3:43053272-43053273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529036715	chr3:43053274-43053275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143967429	chr3:43053294-43053295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182611839	chr3:43053298-43053299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188530361	chr3:43053304-43053305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551724735	chr3:43053307-43053308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73076335	chr3:43053335-43053336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536686775	chr3:43053353-43053354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148633964	chr3:43053390-43053391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567262447	chr3:43053435-43053436	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76182004	chr3:43053463-43053464	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555563647	chr3:43053476-43053477	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572333323	chr3:43053477-43053478	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9863179	chr3:43053576-43053577	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371882876	chr3:43053583-43053584	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558072527	chr3:43053645-43053646	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73832419	chr3:43053653-43053654	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543454123	chr3:43053660-43053661	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191847737	chr3:43053674-43053675	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574065922	chr3:43053700-43053701	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542776903	chr3:43053708-43053709	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375267153	chr3:43053719-43053720	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12494600	chr3:43053735-43053736	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183906786	chr3:43053741-43053742	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559563889	chr3:43053747-43053748	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528327467	chr3:43053751-43053752	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545311939	chr3:43053752-43053753	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565183399	chr3:43053762-43053763	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530486970	chr3:43053764-43053765	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550324399	chr3:43053855-43053856	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567329844	chr3:43053977-43053978	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529733102	chr3:43053987-43053988	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368479401	chr3:43054000-43054001	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546323085	chr3:43054007-43054008	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1696593	chr3:43054013-43054014	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530241944	chr3:43054016-43054017	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188904282	chr3:43054021-43054022	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534935452	chr3:43054022-43054023	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1696594	chr3:43054031-43054032	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1696595	chr3:43054032-43054033	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557982621	chr3:43054034-43054035	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1716082	chr3:43054040-43054041	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530562957	chr3:43054061-43054062	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55668909	chr3:43054089-43054090	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6773937	chr3:43054097-43054098	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71323180	chr3:43054138-43054139	ZNF genes & repeats Weak transcription Enhancers	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43043600-43054400	Weak transcription	Placenta	Placenta
2	chr3:43043800-43054600	Weak transcription	Fetal Kidney	kidney
3	chr3:43048200-43056800	Weak transcription	Primary T cells from cord blood	blood
4	chr3:43048800-43053400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:43053000-43053400	Weak transcription	Fetal Stomach	stomach
6	chr3:43053000-43056200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:43053000-43057800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
8	chr3:43053200-43053600	ZNF genes & repeats	Right Atrium	heart
9	chr3:43053200-43060600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:43053400-43053600	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:43053400-43059400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
12	chr3:43053600-43053800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:43053600-43073200	Weak transcription	Right Atrium	heart
14	chr3:43053800-43054600	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:43053800-43058600	ZNF genes & repeats	Fetal Thymus	thymus
16	chr3:43054000-43058200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr3:43054200-43058800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr3:43054200-43058800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr3:43054200-43059000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
20	chr3:43054400-43055000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr3:43054400-43057200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr3:43054400-43058400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:43054400-43058600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr3:43054400-43058800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:43054400-43058800	ZNF genes & repeats	Dnd41	blood
26	chr3:43054600-43057200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr3:43054600-43061600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:43054800-43058200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:43056800-43057200	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr3:43057000-43058000	ZNF genes & repeats	Spleen	Spleen
31	chr3:43057200-43057400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:43057200-43057600	Weak transcription	Primary T cells from cord blood	blood
33	chr3:43057400-43058000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:43057600-43058400	Enhancers	Primary T cells from cord blood	blood
35	chr3:43058000-43058400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:43058000-43059600	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr3:43058400-43059800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:43058400-43061400	Weak transcription	Primary T cells from cord blood	blood
39	chr3:43058600-43061000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:43058800-43059800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:43058800-43060200	Weak transcription	Thymus	Thymus
42	chr3:43058800-43060600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:43058800-43061000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:43058800-43061400	Weak transcription	Dnd41	blood
45	chr3:43059000-43059400	Enhancers	Esophagus	oesophagus
46	chr3:43059200-43059600	ZNF genes & repeats	Lung	lung
47	chr3:43059400-43059600	Enhancers	Pancreas	Pancrea
48	chr3:43059400-43060800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:43059400-43061200	Enhancers	Ovary	ovary
50	chr3:43059400-43062000	Weak transcription	Esophagus	oesophagus

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