Variant report

Variant	esv3429243
Chromosome Location	chr5:46342195-46372493
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: 3895 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3895 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201099873	chr5:46342197-46342198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182694481	chr5:46342201-46342202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528629518	chr5:46342205-46342206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529458545	chr5:46342210-46342211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376781199	chr5:46342236-46342237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202051607	chr5:46342238-46342239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148995405	chr5:46342281-46342282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116705596	chr5:46342302-46342303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560249963	chr5:46342314-46342315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143839754	chr5:46342347-46342348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187639502	chr5:46342375-46342376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559284216	chr5:46342388-46342389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371963899	chr5:46342392-46342393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199819339	chr5:46342433-46342434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575240991	chr5:46342443-46342444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543839730	chr5:46342460-46342461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554681445	chr5:46342468-46342469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574413014	chr5:46342479-46342480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10059207	chr5:46342500-46342501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559865771	chr5:46342509-46342510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552248387	chr5:46342514-46342515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202080398	chr5:46342515-46342516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562441837	chr5:46342518-46342519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200055189	chr5:46342560-46342561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530966525	chr5:46342561-46342562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550685572	chr5:46342566-46342567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570448422	chr5:46342574-46342575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567765302	chr5:46342575-46342576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192325643	chr5:46342589-46342590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184708381	chr5:46342608-46342609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187363788	chr5:46342609-46342610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539231827	chr5:46342614-46342615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113956753	chr5:46342619-46342620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531538391	chr5:46342626-46342627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537860369	chr5:46342633-46342634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201957599	chr5:46342650-46342651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550021457	chr5:46342657-46342658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183937920	chr5:46342679-46342680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553444266	chr5:46342706-46342707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576675307	chr5:46342710-46342711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189963392	chr5:46342711-46342712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181355169	chr5:46342717-46342718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184309334	chr5:46342721-46342722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202230019	chr5:46342729-46342730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531472874	chr5:46342730-46342731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544617370	chr5:46342746-46342747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146815945	chr5:46342769-46342770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189210642	chr5:46342778-46342779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62386814	chr5:46342784-46342785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181774077	chr5:46342785-46342786	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:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46336600-46345200	Weak transcription	K562	blood
2	chr5:46341200-46345200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:46341200-46345200	Weak transcription	GM12878-XiMat	blood
4	chr5:46341400-46344800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:46341400-46345200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:46341400-46345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:46341400-46345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:46341400-46345200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:46341400-46345200	Weak transcription	Aorta	Aorta
10	chr5:46341400-46345200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:46341400-46345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:46341400-46345200	Weak transcription	Small Intestine	intestine
13	chr5:46341400-46345200	Weak transcription	NH-A	brain
14	chr5:46341400-46345200	Weak transcription	NHDF-Ad	bronchial
15	chr5:46341400-46347000	Weak transcription	Stomach Mucosa	stomach
16	chr5:46341600-46343200	Weak transcription	HUVEC	blood vessel
17	chr5:46341800-46343200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:46341800-46343200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:46342000-46343000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:46343200-46343400	ZNF genes & repeats	HUVEC	blood vessel
21	chr5:46343200-46347800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:46343400-46345200	Weak transcription	HUVEC	blood vessel
24	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:46344200-46348200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:46344600-46345600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:46344800-46345400	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr5:46344800-46345800	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr5:46345000-46345400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr5:46345000-46345400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr5:46345000-46345400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr5:46345000-46345600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr5:46345000-46345600	ZNF genes & repeats	HepG2	liver
35	chr5:46345000-46347600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr5:46345000-46347800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr5:46345200-46345400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:46345200-46345400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:46345200-46345400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:46345200-46345400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:46345200-46345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:46345200-46345400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:46345200-46345400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr5:46345200-46345400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:46345200-46345400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr5:46345200-46345400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:46345200-46345400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr5:46345200-46345400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
49	chr5:46345200-46345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:46345200-46345400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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