Variant report

Variant	esv3468526
Chromosome Location	chr5:119378153-119384651
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	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:

Extended variants
information (count: 315 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568843839	chr5:119378183-119378184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555132325	chr5:119378294-119378295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6863946	chr5:119378304-119378305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146378382	chr5:119378308-119378309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12518525	chr5:119378350-119378351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139753369	chr5:119378354-119378355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540173068	chr5:119378366-119378367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12513455	chr5:119378385-119378386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12518548	chr5:119378434-119378435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35185361	chr5:119378442-119378443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190303774	chr5:119378445-119378446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144545158	chr5:119378451-119378452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144348899	chr5:119378464-119378465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182126435	chr5:119378526-119378527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558178162	chr5:119378548-119378549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1907203	chr5:119378553-119378554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1907202	chr5:119378565-119378566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549078949	chr5:119378572-119378573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185738490	chr5:119378639-119378640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190200538	chr5:119378640-119378641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1907201	chr5:119378643-119378644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs531465727	chr5:119378645-119378646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551089844	chr5:119378668-119378669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181045617	chr5:119378745-119378746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533419845	chr5:119378770-119378771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1899766	chr5:119378772-119378773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200807132	chr5:119378796-119378797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1907200	chr5:119378798-119378799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35300655	chr5:119378799-119378800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs66756216	chr5:119378875-119378876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201326479	chr5:119378885-119378886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373053746	chr5:119378886-119378887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554151924	chr5:119378887-119378888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200278807	chr5:119378890-119378891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569638719	chr5:119378900-119378901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397756364	chr5:119378903-119378904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6883773	chr5:119378918-119378919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111968243	chr5:119378927-119378928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569006570	chr5:119378931-119378932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538374616	chr5:119378965-119378966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148710168	chr5:119378980-119378981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185422597	chr5:119378984-119378985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570434061	chr5:119378995-119378996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565706963	chr5:119379004-119379005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78830801	chr5:119379025-119379026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6887845	chr5:119379035-119379036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147542967	chr5:119379055-119379056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372383313	chr5:119379056-119379057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142281502	chr5:119379071-119379072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386691709	chr5:119379104-119379105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119376000-119378600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:119378600-119379600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:119379200-119380200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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