Variant report

Variant	esv3375421
Chromosome Location	chr5:46341495-46372493
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: 3968 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3968 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528205988	chr5:46341512-46341513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183449936	chr5:46341514-46341515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571363021	chr5:46341517-46341518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530755203	chr5:46341528-46341529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550737151	chr5:46341532-46341533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567464952	chr5:46341533-46341534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200389233	chr5:46341540-46341541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536499875	chr5:46341554-46341555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570712190	chr5:46341582-46341583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565776456	chr5:46341588-46341589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534693414	chr5:46341593-46341594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11957495	chr5:46341597-46341598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557855774	chr5:46341607-46341608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577698569	chr5:46341610-46341611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537261016	chr5:46341620-46341621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201091385	chr5:46341635-46341636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369744523	chr5:46341657-46341658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112055722	chr5:46341667-46341668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142221496	chr5:46341684-46341685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556121133	chr5:46341714-46341715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564328150	chr5:46341717-46341718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10057204	chr5:46341723-46341724	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185935272	chr5:46341734-46341735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146242412	chr5:46341735-46341736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568225684	chr5:46341739-46341740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572924023	chr5:46341756-46341757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535598155	chr5:46341771-46341772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190822659	chr5:46341804-46341805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11957550	chr5:46341805-46341806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550504486	chr5:46341808-46341809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561095568	chr5:46341809-46341810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529838194	chr5:46341824-46341825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554205008	chr5:46341831-46341832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202139173	chr5:46341841-46341842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200463780	chr5:46341854-46341855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201299680	chr5:46341869-46341870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144276652	chr5:46341873-46341874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182644046	chr5:46341878-46341879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188396649	chr5:46341882-46341883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551325882	chr5:46341893-46341894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10462113	chr5:46341898-46341899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557728806	chr5:46341900-46341901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537508679	chr5:46341915-46341916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557284295	chr5:46341936-46341937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200476965	chr5:46341946-46341947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574219101	chr5:46341950-46341951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192229622	chr5:46341960-46341961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553731963	chr5:46341965-46341966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573562795	chr5:46341981-46341982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576367889	chr5:46341991-46341992	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:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr5:46334200-46341800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:46336600-46345200	Weak transcription	K562	blood
5	chr5:46339000-46341600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr5:46339200-46341600	ZNF genes & repeats	HUVEC	blood vessel
7	chr5:46339400-46341600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr5:46340200-46341600	ZNF genes & repeats	Fetal Brain Male	brain
9	chr5:46340600-46341600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr5:46341200-46345200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:46341200-46345200	Weak transcription	GM12878-XiMat	blood
12	chr5:46341400-46344800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:46341400-46345200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:46341400-46345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:46341400-46345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:46341400-46345200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:46341400-46345200	Weak transcription	Aorta	Aorta
18	chr5:46341400-46345200	Weak transcription	Brain Angular Gyrus	brain
19	chr5:46341400-46345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:46341400-46345200	Weak transcription	Small Intestine	intestine
21	chr5:46341400-46345200	Weak transcription	NH-A	brain
22	chr5:46341400-46345200	Weak transcription	NHDF-Ad	bronchial
23	chr5:46341400-46347000	Weak transcription	Stomach Mucosa	stomach
24	chr5:46341600-46342000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:46341600-46343200	Weak transcription	HUVEC	blood vessel
26	chr5:46341800-46343200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:46341800-46343200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:46342000-46343000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:46343200-46343400	ZNF genes & repeats	HUVEC	blood vessel
30	chr5:46343200-46347800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:46343200-46371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:46343400-46345200	Weak transcription	HUVEC	blood vessel
33	chr5:46343400-46370200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:46344200-46348200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr5:46344200-46371400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:46344600-46345600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:46344800-46345400	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr5:46344800-46345800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr5:46345000-46345400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr5:46345000-46345400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr5:46345000-46345400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr5:46345000-46345600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr5:46345000-46345600	ZNF genes & repeats	HepG2	liver
44	chr5:46345000-46347600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr5:46345000-46347800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr5:46345200-46345400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:46345200-46345400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:46345200-46345400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:46345200-46345400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:46345200-46345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links