Variant report

Variant	esv3410729
Chromosome Location	chr5:61528395-61531893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543877861	chr5:61528454-61528455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186708683	chr5:61528458-61528459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539470483	chr5:61528529-61528530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191171638	chr5:61528539-61528540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368718330	chr5:61528549-61528550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558396105	chr5:61528576-61528577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565672423	chr5:61528583-61528584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562366223	chr5:61528631-61528632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529568487	chr5:61528638-61528639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554390734	chr5:61528643-61528644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4038062	chr5:61528695-61528696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4038061	chr5:61528748-61528749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4038060	chr5:61528749-61528750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574441226	chr5:61528757-61528758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3963916	chr5:61528767-61528768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183949290	chr5:61528788-61528789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188868164	chr5:61528833-61528834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111499203	chr5:61528834-61528835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548122832	chr5:61528835-61528836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192921666	chr5:61528851-61528852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185239387	chr5:61528858-61528859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112694004	chr5:61528866-61528867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528839107	chr5:61528873-61528874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542430198	chr5:61528904-61528905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562222197	chr5:61528905-61528906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187180893	chr5:61528937-61528938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148662058	chr5:61528965-61528966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551025929	chr5:61529049-61529050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570872169	chr5:61529067-61529068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533345156	chr5:61529079-61529080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546617294	chr5:61529086-61529087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565636880	chr5:61529091-61529092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191580785	chr5:61529167-61529168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146199113	chr5:61529173-61529174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34114562	chr5:61529184-61529185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568202316	chr5:61529197-61529198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375325654	chr5:61529234-61529235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536874012	chr5:61529259-61529260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115067726	chr5:61529291-61529292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556986003	chr5:61529313-61529314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576890049	chr5:61529409-61529410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183738027	chr5:61529427-61529428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188205059	chr5:61529428-61529429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143967750	chr5:61529449-61529450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201776123	chr5:61529476-61529477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373531182	chr5:61529494-61529495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111307632	chr5:61529604-61529605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542493481	chr5:61529611-61529612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562387778	chr5:61529698-61529699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575759121	chr5:61529790-61529791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61521000-61529200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:61526200-61529400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:61526200-61529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:61526400-61530000	Enhancers	Fetal Intestine Large	intestine
5	chr5:61526400-61530200	Enhancers	Fetal Intestine Small	intestine
6	chr5:61526800-61530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:61526800-61531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:61528000-61528600	Enhancers	HSMMtube	muscle
9	chr5:61528000-61529000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:61528000-61529800	Enhancers	Hela-S3	cervix
11	chr5:61528200-61528800	Weak transcription	K562	blood
12	chr5:61528200-61529000	Weak transcription	GM12878-XiMat	blood
13	chr5:61528600-61529000	Weak transcription	HSMMtube	muscle
14	chr5:61528800-61529600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:61528800-61529800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:61528800-61529800	Enhancers	K562	blood
17	chr5:61528800-61530000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:61529000-61529200	Enhancers	HSMMtube	muscle
19	chr5:61529000-61529400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:61529000-61529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:61529000-61529800	Enhancers	HMEC	breast
22	chr5:61529000-61529800	Enhancers	HUVEC	blood vessel
23	chr5:61529000-61531600	Enhancers	GM12878-XiMat	blood
24	chr5:61529200-61529400	Enhancers	Colon Smooth Muscle	Colon
25	chr5:61529200-61529800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:61529200-61529800	Enhancers	HSMM	muscle
27	chr5:61529200-61530800	Weak transcription	HSMMtube	muscle
28	chr5:61529400-61534200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:61529600-61533000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:61529800-61530800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:61529800-61530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:61529800-61530800	Weak transcription	HSMM	muscle
33	chr5:61529800-61531200	Weak transcription	K562	blood
34	chr5:61529800-61532200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:61530000-61531400	Weak transcription	Fetal Intestine Large	intestine
36	chr5:61530000-61533000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:61530200-61530600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:61530600-61531600	Enhancers	Fetal Intestine Small	intestine
39	chr5:61530800-61531000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:61530800-61531000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:61530800-61531400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:61530800-61531800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:61530800-61532000	Enhancers	HSMMtube	muscle
44	chr5:61530800-61533400	Enhancers	HSMM	muscle
45	chr5:61530800-61533800	Enhancers	Fetal Muscle Leg	muscle
46	chr5:61531000-61531400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:61531000-61533400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:61531200-61531600	Enhancers	K562	blood
49	chr5:61531200-61532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:61531400-61531600	Enhancers	Fetal Intestine Large	intestine

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