Variant report

Variant	nsv980714
Chromosome Location	chr5:113301277-113321673
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	chr5:113305896..113307463-chr5:113310563..113313169,2	MCF-7	breast:
2	chr5:113305896..113307463-chr5:113310563..113313169,2	MCF-7	breast:

Extended variants
information (count: 758 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551458625	chr5:113304415-113304416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150481963	chr5:113304444-113304445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7708011	chr5:113304476-113304477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183898850	chr5:113304507-113304508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376419721	chr5:113304511-113304512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574668554	chr5:113304516-113304517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543699940	chr5:113304523-113304524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557193431	chr5:113304593-113304594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77369258	chr5:113304630-113304631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545927330	chr5:113304668-113304669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188627617	chr5:113304671-113304672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191842779	chr5:113304685-113304686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540710446	chr5:113304707-113304708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561887874	chr5:113304714-113304715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529064099	chr5:113304743-113304744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76328481	chr5:113304774-113304775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562724485	chr5:113304804-113304805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79705365	chr5:113304811-113304812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138301324	chr5:113304823-113304824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566445035	chr5:113304826-113304827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534995836	chr5:113304934-113304935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527420661	chr5:113304971-113304972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78002033	chr5:113305036-113305037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548638649	chr5:113305074-113305075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78072823	chr5:113305090-113305091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372486028	chr5:113305108-113305109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557132107	chr5:113305175-113305176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540856349	chr5:113305178-113305179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569492834	chr5:113305179-113305180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540110576	chr5:113305186-113305187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73254458	chr5:113305203-113305204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73779586	chr5:113305254-113305255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10519367	chr5:113305311-113305312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149459331	chr5:113305358-113305359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573882242	chr5:113305364-113305365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544464884	chr5:113305379-113305380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562690844	chr5:113305440-113305441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190013331	chr5:113305482-113305483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147130455	chr5:113305492-113305493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559532456	chr5:113305551-113305552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555980169	chr5:113305599-113305600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527759995	chr5:113305611-113305612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538504088	chr5:113305702-113305703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576125207	chr5:113305743-113305744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377404334	chr5:113305773-113305774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73254459	chr5:113305774-113305775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527244040	chr5:113305777-113305778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182137762	chr5:113305810-113305811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17340718	chr5:113305867-113305868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531298637	chr5:113305871-113305872	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113304400-113304800	Enhancers	Fetal Brain Male	brain
2	chr5:113304600-113307000	Enhancers	Brain Germinal Matrix	brain
3	chr5:113305600-113306000	Enhancers	Fetal Brain Female	brain
4	chr5:113305600-113307400	Enhancers	Fetal Heart	heart
5	chr5:113307400-113310600	Weak transcription	Fetal Heart	heart
6	chr5:113310600-113312400	Enhancers	Fetal Heart	heart
7	chr5:113310800-113311200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:113311200-113312000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:113312000-113312200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:113312400-113320600	Weak transcription	Fetal Heart	heart
11	chr5:113320200-113322200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:113320600-113321200	Enhancers	Fetal Heart	heart
13	chr5:113320800-113321000	Enhancers	Ovary	ovary
14	chr5:113321600-113321800	Enhancers	Ovary	ovary

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