Variant report

Variant	esv3448662
Chromosome Location	chr5:61547295-61552493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
2	chr5:61551611..61555704-chr5:61555776..61558862,4	K562	blood:
3	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77369808	chr5:61547307-61547308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75623469	chr5:61547308-61547309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149501195	chr5:61547314-61547315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33937243	chr5:61547341-61547342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386403931	chr5:61547342-61547343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs70977892	chr5:61547361-61547362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200835737	chr5:61547365-61547366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112341314	chr5:61547426-61547427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561833176	chr5:61547428-61547429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530749208	chr5:61547433-61547434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550677038	chr5:61547515-61547516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139895915	chr5:61547545-61547546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560184311	chr5:61547547-61547548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185582601	chr5:61547592-61547593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566349749	chr5:61547675-61547676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536107255	chr5:61547776-61547777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189846588	chr5:61547777-61547778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34287763	chr5:61547790-61547791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147669049	chr5:61547793-61547794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182379060	chr5:61547801-61547802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573365104	chr5:61547810-61547811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143611642	chr5:61547817-61547818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578076719	chr5:61547851-61547852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558613028	chr5:61547858-61547859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28674976	chr5:61547878-61547879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554086631	chr5:61547885-61547886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189210258	chr5:61547905-61547906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35936204	chr5:61547916-61547917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200762591	chr5:61547917-61547918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542119615	chr5:61547922-61547923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60205320	chr5:61547932-61547933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148053161	chr5:61547957-61547958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13188046	chr5:61547960-61547961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544462654	chr5:61547998-61547999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201863344	chr5:61548009-61548010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544295974	chr5:61548029-61548030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73117323	chr5:61548046-61548047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564023690	chr5:61548087-61548088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532998318	chr5:61548123-61548124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539961936	chr5:61548138-61548139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560061443	chr5:61548196-61548197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528902642	chr5:61548213-61548214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35048561	chr5:61548221-61548222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139080920	chr5:61548222-61548223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551088488	chr5:61548271-61548272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374341583	chr5:61548300-61548301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549242901	chr5:61548315-61548316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141689040	chr5:61548328-61548329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531776295	chr5:61548339-61548340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551603107	chr5:61548383-61548384	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61534400-61552000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:61548200-61548400	Enhancers	K562	blood
3	chr5:61548400-61548800	Flanking Active TSS	K562	blood
4	chr5:61548800-61549000	Enhancers	K562	blood
5	chr5:61549000-61552000	Weak transcription	K562	blood
6	chr5:61549400-61551800	Enhancers	Primary T cells from cord blood	blood
7	chr5:61549800-61550000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:61549800-61550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:61549800-61552000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:61549800-61552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:61549800-61553800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:61550000-61551000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:61550000-61552000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:61550200-61550400	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:61550200-61551000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:61550200-61552000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:61550200-61552200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:61550400-61552000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:61550800-61552000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:61551000-61551200	Enhancers	GM12878-XiMat	blood
21	chr5:61551000-61552000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:61551000-61552200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:61551000-61552200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:61551000-61552200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:61551200-61552000	Weak transcription	GM12878-XiMat	blood
26	chr5:61551400-61552000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:61551800-61552000	Enhancers	Dnd41	blood
28	chr5:61551800-61553000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr5:61552000-61552200	Flanking Active TSS	Dnd41	blood
30	chr5:61552000-61552400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:61552000-61552400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:61552000-61552400	Enhancers	Pancreas	Pancrea
33	chr5:61552000-61552400	Enhancers	GM12878-XiMat	blood
34	chr5:61552000-61552600	Enhancers	Fetal Intestine Small	intestine
35	chr5:61552000-61552800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:61552000-61552800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr5:61552000-61552800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr5:61552000-61552800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:61552000-61552800	Enhancers	Adipose Nuclei	Adipose
40	chr5:61552000-61552800	Enhancers	Brain Hippocampus Middle	brain
41	chr5:61552000-61552800	Enhancers	Fetal Lung	lung
42	chr5:61552000-61552800	Enhancers	Fetal Thymus	thymus
43	chr5:61552000-61552800	Enhancers	Thymus	Thymus
44	chr5:61552000-61553000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:61552000-61553000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:61552000-61553000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:61552000-61553000	Enhancers	Fetal Kidney	kidney
48	chr5:61552000-61553000	Enhancers	Fetal Muscle Leg	muscle
49	chr5:61552000-61553200	Enhancers	Brain Germinal Matrix	brain
50	chr5:61552000-61553200	Enhancers	HUVEC	blood vessel

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