Variant report

Variant	nsv1031446
Chromosome Location	chr5:46313335-46389261
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:
2	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 9293 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:9293 , 50 per page) page: 1 2 3 4 5 6 7 ... 186

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181954613	chr5:46313336-46313337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575774400	chr5:46313337-46313338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545645438	chr5:46313338-46313339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115652177	chr5:46313354-46313355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561260614	chr5:46313362-46313363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568362064	chr5:46313368-46313369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146293653	chr5:46313370-46313371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368259982	chr5:46313382-46313383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529318282	chr5:46313384-46313385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62372646	chr5:46318009-46318010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560981634	chr5:46318014-46318015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199837728	chr5:46318015-46318016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574336988	chr5:46318028-46318029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540352638	chr5:46318029-46318030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36191992	chr5:46318032-46318033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375467738	chr5:46318033-46318034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552354066	chr5:46318038-46318039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562669069	chr5:46318043-46318044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370134730	chr5:46318055-46318056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531675692	chr5:46318059-46318060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577618796	chr5:46318077-46318078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567677417	chr5:46318086-46318087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373512226	chr5:46318088-46318089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370989902	chr5:46318108-46318109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544696447	chr5:46318113-46318114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547089025	chr5:46318129-46318130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377459294	chr5:46318132-46318133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566587797	chr5:46318133-46318134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577522939	chr5:46318137-46318138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113679957	chr5:46318166-46318167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558774843	chr5:46318172-46318173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575424887	chr5:46318186-46318187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538566113	chr5:46318197-46318198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36130636	chr5:46318209-46318210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200128919	chr5:46318214-46318215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372492878	chr5:46318232-46318233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562980461	chr5:46318234-46318235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201220783	chr5:46318236-46318237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539805906	chr5:46318249-46318250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201988284	chr5:46318293-46318294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181666587	chr5:46318306-46318307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113074694	chr5:46318316-46318317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574874583	chr5:46318322-46318323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542536983	chr5:46318329-46318330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545903449	chr5:46318333-46318334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562705828	chr5:46318339-46318340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185402186	chr5:46318340-46318341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71287095	chr5:46318344-46318345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188654711	chr5:46318345-46318346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561797353	chr5:46318362-46318363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46309400-46313400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46318000-46318400	Weak transcription	Liver	Liver
3	chr5:46318400-46318800	Active TSS	Fetal Heart	heart
4	chr5:46318400-46319800	ZNF genes & repeats	Liver	Liver
5	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:46320200-46328000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:46320600-46323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:46321600-46328800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr5:46321600-46330400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr5:46321800-46322200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:46321800-46322400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:46321800-46322400	ZNF genes & repeats	Left Ventricle	heart
13	chr5:46321800-46322600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr5:46322000-46322200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
15	chr5:46322000-46322200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr5:46322000-46322400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:46322000-46322400	ZNF genes & repeats	Fetal Heart	heart
18	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr5:46323800-46324000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
20	chr5:46324000-46325800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:46324600-46325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:46325400-46327800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:46325600-46326000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:46325600-46326000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:46325600-46326000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr5:46325600-46326400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:46325600-46327400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr5:46325800-46326000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr5:46325800-46326000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
31	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:46325800-46326000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr5:46325800-46326000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:46325800-46326000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
36	chr5:46325800-46326000	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr5:46325800-46326000	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr5:46325800-46326000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr5:46325800-46326000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:46325800-46326000	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr5:46325800-46326000	ZNF genes & repeats	Fetal Brain Male	brain
42	chr5:46325800-46326000	ZNF genes & repeats	Fetal Kidney	kidney
43	chr5:46325800-46326000	ZNF genes & repeats	Left Ventricle	heart
44	chr5:46325800-46326000	ZNF genes & repeats	Right Atrium	heart
45	chr5:46325800-46326000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr5:46325800-46326000	ZNF genes & repeats	Stomach Mucosa	stomach
47	chr5:46325800-46326000	ZNF genes & repeats	Dnd41	blood
48	chr5:46325800-46326000	ZNF genes & repeats	GM12878-XiMat	blood
49	chr5:46325800-46326000	ZNF genes & repeats	Hela-S3	cervix
50	chr5:46325800-46326000	ZNF genes & repeats	HSMMtube	muscle

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