Variant report

Variant	esv3364485
Chromosome Location	chr5:61609616-61610282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61604944..61606842-chr5:61609048..61611891,3	MCF-7	breast:
2	chr5:61555834..61558737-chr5:61608990..61611037,2	MCF-7	breast:
3	chr5:61609391..61611692-chr5:61614218..61617054,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150928315	chr5:61609616-61609617	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184132183	chr5:61609726-61609727	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369001114	chr5:61609759-61609760	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576682636	chr5:61609769-61609770	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547060197	chr5:61609778-61609779	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545328028	chr5:61609833-61609834	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9968583	chr5:61609852-61609853	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572589422	chr5:61609858-61609859	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564679212	chr5:61609935-61609936	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77349966	chr5:61609959-61609960	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561074281	chr5:61609985-61609986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78281867	chr5:61609987-61609988	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376989724	chr5:61610007-61610008	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141122269	chr5:61610028-61610029	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563489432	chr5:61610032-61610033	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571583772	chr5:61610046-61610047	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532535987	chr5:61610072-61610073	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59922893	chr5:61610080-61610081	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551427315	chr5:61610086-61610087	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571502953	chr5:61610160-61610161	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527513775	chr5:61610192-61610193	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9968586	chr5:61610255-61610256	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61625200	Weak transcription	Stomach Mucosa	stomach
4	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
5	chr5:61603600-61622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:61603600-61622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
8	chr5:61603800-61611200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:61603800-61611200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:61603800-61611200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
12	chr5:61604000-61611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:61604000-61617400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:61604000-61622200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:61604000-61622200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:61604000-61622200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
18	chr5:61604200-61616800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:61604400-61616000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:61604400-61617400	Weak transcription	Fetal Stomach	stomach
21	chr5:61604400-61617400	Weak transcription	HUVEC	blood vessel
22	chr5:61604400-61617600	Weak transcription	Placenta	Placenta
23	chr5:61604400-61627000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
25	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
26	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:61604600-61610200	Weak transcription	Hela-S3	cervix
28	chr5:61604600-61612600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:61604600-61615400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:61604600-61615600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr5:61604600-61616400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
34	chr5:61604800-61614600	Weak transcription	Primary B cells from cord blood	blood
35	chr5:61604800-61615600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:61605400-61617400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:61605600-61611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:61605800-61617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:61606000-61616400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:61606200-61609800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:61606200-61614600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:61606400-61610200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:61606400-61610400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:61606400-61612600	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:61606600-61612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:61606600-61617600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:61606600-61619600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:61606800-61611200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
50	chr5:61607000-61617400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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