Variant report

Variant	nsv882763
Chromosome Location	chr5:117711970-117754341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
2	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
3	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
4	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
5	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:

Extended variants
information (count: 819 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12513815	chr5:117711970-117711971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548945170	chr5:117711989-117711990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556262072	chr5:117712013-117712014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562683876	chr5:117712070-117712071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531536942	chr5:117712152-117712153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150813702	chr5:117712160-117712161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186464992	chr5:117712167-117712168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539452284	chr5:117712170-117712171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367828148	chr5:117712179-117712180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114601703	chr5:117712198-117712199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373153791	chr5:117712240-117712241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139417733	chr5:117712289-117712290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372733693	chr5:117712319-117712320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377281841	chr5:117712320-117712321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72791694	chr5:117712321-117712322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145629261	chr5:117712351-117712352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189958003	chr5:117712355-117712356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147726169	chr5:117712371-117712372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553797481	chr5:117712401-117712402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538406126	chr5:117712421-117712422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73791144	chr5:117712427-117712428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578237443	chr5:117712432-117712433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180784454	chr5:117712444-117712445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553717049	chr5:117712497-117712498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573685203	chr5:117712508-117712509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185242246	chr5:117712509-117712510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562213248	chr5:117712528-117712529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376363445	chr5:117712544-117712545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544758160	chr5:117712572-117712573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190891081	chr5:117712592-117712593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536333698	chr5:117712619-117712620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140913690	chr5:117712642-117712643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546724686	chr5:117712717-117712718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144356728	chr5:117712722-117712723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554680084	chr5:117712723-117712724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145515722	chr5:117712735-117712736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544750667	chr5:117712744-117712745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183262524	chr5:117712790-117712791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148840440	chr5:117712805-117712806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186820272	chr5:117712830-117712831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578195282	chr5:117712839-117712840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539304718	chr5:117712869-117712870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572010093	chr5:117712903-117712904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191635862	chr5:117712911-117712912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377547538	chr5:117712918-117712919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183152197	chr5:117712923-117712924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376229474	chr5:117712950-117712951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542233244	chr5:117713025-117713026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187882699	chr5:117713037-117713038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575691551	chr5:117713049-117713050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117708200-117712600	Weak transcription	Left Ventricle	heart
2	chr5:117708600-117714400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:117711600-117712600	Weak transcription	Ovary	ovary
4	chr5:117712400-117712800	Enhancers	Right Ventricle	heart
5	chr5:117712600-117712800	Enhancers	Right Atrium	heart
6	chr5:117712600-117713200	Enhancers	Left Ventricle	heart
7	chr5:117712600-117714400	Enhancers	Ovary	ovary
8	chr5:117713400-117714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:117713400-117715000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:117714200-117715200	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:117714400-117714800	Weak transcription	Ovary	ovary
12	chr5:117714400-117714800	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:117714800-117715400	Enhancers	Ovary	ovary
14	chr5:117715000-117715400	Enhancers	Fetal Muscle Leg	muscle
15	chr5:117717200-117717600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:117717200-117717600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:117717200-117717600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:117717200-117717600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:117717400-117717800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:117727800-117728400	Enhancers	Fetal Brain Female	brain
21	chr5:117734800-117735400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:117735600-117735800	Enhancers	Right Atrium	heart
23	chr5:117735800-117743800	Weak transcription	Right Atrium	heart
24	chr5:117740800-117742000	Enhancers	Fetal Muscle Trunk	muscle
25	chr5:117741000-117742000	Enhancers	Fetal Muscle Leg	muscle
26	chr5:117741200-117741600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:117741200-117741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:117741200-117741800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:117741400-117741600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:117741400-117741600	Enhancers	Right Ventricle	heart
31	chr5:117741400-117741800	Enhancers	Fetal Stomach	stomach
32	chr5:117741400-117742000	Enhancers	Left Ventricle	heart
33	chr5:117741600-117744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:117743400-117744000	Enhancers	Right Ventricle	heart
35	chr5:117743800-117744200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:117743800-117744600	Enhancers	Right Atrium	heart
37	chr5:117744000-117744600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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