Variant report

Variant	esv3346524
Chromosome Location	chr5:61766584-61767010
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	chr5:61753206..61755091-chr5:61766346..61768093,2	MCF-7	breast:
2	chr5:61766130..61769204-chr5:61785246..61788034,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573867218	chr5:61766585-61766586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542788950	chr5:61766596-61766597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78904981	chr5:61766645-61766646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs70981015	chr5:61766668-61766669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371828174	chr5:61766685-61766686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542696042	chr5:61766704-61766705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113544290	chr5:61766711-61766712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560498654	chr5:61766801-61766802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs27447	chr5:61766811-61766812	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs565234283	chr5:61766812-61766813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529604375	chr5:61766828-61766829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533095042	chr5:61766843-61766844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546848397	chr5:61766844-61766845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148501011	chr5:61766880-61766881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112195550	chr5:61766886-61766887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539829943	chr5:61766888-61766889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549191055	chr5:61766892-61766893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565212353	chr5:61766897-61766898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376825469	chr5:61766962-61766963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67961844	chr5:61766977-61766978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709800-61769000	Weak transcription	NH-A	brain
3	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
6	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:61730000-61834200	Weak transcription	Gastric	stomach
8	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
12	chr5:61746200-61783600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:61748000-61794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
15	chr5:61748600-61784400	Weak transcription	Lung	lung
16	chr5:61748600-61787000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:61748800-61771400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:61749000-61786200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:61749400-61779400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:61750600-61785200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:61750600-61786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:61752600-61774000	Weak transcription	Fetal Stomach	stomach
23	chr5:61753400-61774600	Weak transcription	Brain Germinal Matrix	brain
24	chr5:61757600-61792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
26	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
27	chr5:61759800-61790000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:61760600-61781400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:61761600-61768000	Strong transcription	Dnd41	blood
31	chr5:61762000-61769000	Weak transcription	HMEC	breast
32	chr5:61762200-61768800	Weak transcription	HUVEC	blood vessel
33	chr5:61762200-61776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:61762400-61767000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:61762400-61770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:61762600-61767000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:61763000-61770600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:61763200-61768600	Weak transcription	NHDF-Ad	bronchial
39	chr5:61763200-61768800	Weak transcription	NHLF	lung
40	chr5:61763400-61766600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:61763400-61767000	Strong transcription	Fetal Thymus	thymus
42	chr5:61763400-61769000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:61763400-61799400	Weak transcription	Fetal Heart	heart
44	chr5:61763600-61770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:61763800-61809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:61764000-61769000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:61764000-61770400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:61764000-61770400	Weak transcription	K562	blood
49	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
50	chr5:61764000-61858200	Weak transcription	Placenta	Placenta

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