Variant report

Variant	esv3332473
Chromosome Location	chr5:46320595-46342693
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	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 3028 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3028 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183414224	chr5:46320596-46320597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs8185090	chr5:46320628-46320629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201816673	chr5:46320643-46320644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386687850	chr5:46320644-46320645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529911955	chr5:46320645-46320646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372955001	chr5:46320646-46320647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560386798	chr5:46320696-46320697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552574463	chr5:46320729-46320730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532490544	chr5:46320732-46320733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375026096	chr5:46320739-46320740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552477762	chr5:46320743-46320744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571636135	chr5:46320758-46320759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116440134	chr5:46320759-46320760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148664566	chr5:46320769-46320770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185923755	chr5:46320791-46320792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536340496	chr5:46320805-46320806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553188833	chr5:46320815-46320816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566706381	chr5:46320823-46320824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538976764	chr5:46320841-46320842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142338697	chr5:46320849-46320850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190640100	chr5:46320853-46320854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543822611	chr5:46320857-46320858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554652679	chr5:46320858-46320859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540947624	chr5:46320867-46320868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574494481	chr5:46320874-46320875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540323457	chr5:46320881-46320882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560423613	chr5:46320887-46320888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151284426	chr5:46320914-46320915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568565672	chr5:46320928-46320929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562599953	chr5:46320929-46320930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8185316	chr5:46320935-46320936	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554591282	chr5:46320950-46320951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567638725	chr5:46320956-46320957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182664777	chr5:46320957-46320958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188136336	chr5:46320973-46320974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566747492	chr5:46320985-46320986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192663487	chr5:46320986-46320987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111309766	chr5:46321012-46321013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538816101	chr5:46321016-46321017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559215369	chr5:46321018-46321019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182678675	chr5:46321020-46321021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187953288	chr5:46321021-46321022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192337649	chr5:46321026-46321027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140436835	chr5:46321042-46321043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201859883	chr5:46321065-46321066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540547171	chr5:46321096-46321097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540349474	chr5:46321106-46321107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184724869	chr5:46321123-46321124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114460674	chr5:46321183-46321184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545632823	chr5:46321192-46321193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:46320600-46323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr5:46321800-46322200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:46321800-46322400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:46321800-46322400	ZNF genes & repeats	Left Ventricle	heart
9	chr5:46321800-46322600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr5:46322000-46322200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr5:46322000-46322200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:46322000-46322400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:46322000-46322400	ZNF genes & repeats	Fetal Heart	heart
14	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr5:46323800-46324000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
16	chr5:46324000-46325800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:46324600-46325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:46325400-46327800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:46325600-46326000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:46325600-46326000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:46325600-46326000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
22	chr5:46325600-46326400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:46325600-46327400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr5:46325800-46326000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr5:46325800-46326000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr5:46325800-46326000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:46325800-46326000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr5:46325800-46326000	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr5:46325800-46326000	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr5:46325800-46326000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
35	chr5:46325800-46326000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:46325800-46326000	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr5:46325800-46326000	ZNF genes & repeats	Fetal Brain Male	brain
38	chr5:46325800-46326000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr5:46325800-46326000	ZNF genes & repeats	Left Ventricle	heart
40	chr5:46325800-46326000	ZNF genes & repeats	Right Atrium	heart
41	chr5:46325800-46326000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr5:46325800-46326000	ZNF genes & repeats	Stomach Mucosa	stomach
43	chr5:46325800-46326000	ZNF genes & repeats	Dnd41	blood
44	chr5:46325800-46326000	ZNF genes & repeats	GM12878-XiMat	blood
45	chr5:46325800-46326000	ZNF genes & repeats	Hela-S3	cervix
46	chr5:46325800-46326000	ZNF genes & repeats	HSMMtube	muscle
47	chr5:46325800-46326000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr5:46325800-46326000	ZNF genes & repeats	NH-A	brain
49	chr5:46325800-46326000	ZNF genes & repeats	NHDF-Ad	bronchial
50	chr5:46325800-46326200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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