Variant report

Variant	esv2541114
Chromosome Location	chr5:46361245-46363037
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	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527838699	chr5:46361247-46361248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548094030	chr5:46361254-46361255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78715240	chr5:46361261-46361262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148366071	chr5:46361267-46361268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189456822	chr5:46361275-46361276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181444936	chr5:46361286-46361287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201530008	chr5:46361291-46361292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569664187	chr5:46361298-46361299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201036082	chr5:46361299-46361300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199686787	chr5:46361302-46361303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201763527	chr5:46361305-46361306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535576154	chr5:46361317-46361318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368968963	chr5:46361349-46361350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372388761	chr5:46361350-46361351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534489604	chr5:46361356-46361357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534617385	chr5:46361364-46361365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557514724	chr5:46361368-46361369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184137916	chr5:46361401-46361402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552950034	chr5:46361414-46361415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10066636	chr5:46361416-46361417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374992990	chr5:46361418-46361419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575989930	chr5:46361419-46361420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189459627	chr5:46361422-46361423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542314390	chr5:46361423-46361424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111431989	chr5:46361445-46361446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76020626	chr5:46361468-46361469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572618881	chr5:46361485-46361486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541295047	chr5:46361501-46361502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564644969	chr5:46361521-46361522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533715703	chr5:46361538-46361539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112521392	chr5:46361548-46361549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113512363	chr5:46361575-46361576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544116746	chr5:46361577-46361578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181911302	chr5:46361578-46361579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544921568	chr5:46361582-46361583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187135007	chr5:46361592-46361593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528837187	chr5:46361624-46361625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549082478	chr5:46361625-46361626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565672077	chr5:46361627-46361628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528168809	chr5:46361628-46361629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200605777	chr5:46361629-46361630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551209739	chr5:46361667-46361668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571101377	chr5:46361668-46361669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186554962	chr5:46361674-46361675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563488442	chr5:46361685-46361686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556792687	chr5:46361714-46361715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149865275	chr5:46361727-46361728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201561592	chr5:46361732-46361733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368633934	chr5:46361741-46361742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575836265	chr5:46361755-46361756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:46351600-46368400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:46355200-46367800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr5:46356200-46365000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr5:46359000-46361400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr5:46359200-46364800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr5:46359400-46361400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:46359400-46361800	ZNF genes & repeats	HUVEC	blood vessel
11	chr5:46359400-46362000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr5:46359400-46362400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:46359400-46369800	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr5:46359800-46364200	Weak transcription	HSMMtube	muscle
15	chr5:46360000-46363600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:46360800-46362200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr5:46361000-46361800	ZNF genes & repeats	Liver	Liver
18	chr5:46361000-46362000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr5:46361200-46361600	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr5:46361200-46365200	Weak transcription	NH-A	brain
21	chr5:46363000-46364200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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