Variant report

Variant	nsv882761
Chromosome Location	chr5:117152947-117241490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:
2	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
3	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:

Extended variants
information (count: 831 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:831 , 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	rs534533204	chr5:117165022-117165023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6869085	chr5:117165051-117165052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10060311	chr5:117165057-117165058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535905837	chr5:117165081-117165082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533079206	chr5:117165083-117165084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575780673	chr5:117165128-117165129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544796392	chr5:117165134-117165135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558751565	chr5:117165142-117165143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190673471	chr5:117165171-117165172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146167546	chr5:117165177-117165178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560252839	chr5:117165207-117165208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139004401	chr5:117165259-117165260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543090664	chr5:117165267-117165268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115148295	chr5:117165269-117165270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531874535	chr5:117165274-117165275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116397123	chr5:117165277-117165278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6869562	chr5:117165311-117165312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182445533	chr5:117165312-117165313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141540947	chr5:117165314-117165315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566877977	chr5:117165345-117165346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185600474	chr5:117165401-117165402	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs111882032	chr5:117165445-117165446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190892182	chr5:117165490-117165491	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558440560	chr5:117165503-117165504	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182594655	chr5:117165521-117165522	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534566915	chr5:117165522-117165523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554844693	chr5:117165578-117165579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574824531	chr5:117165593-117165594	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543025595	chr5:117165639-117165640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562896186	chr5:117165654-117165655	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576575924	chr5:117165660-117165661	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545497441	chr5:117165673-117165674	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565292321	chr5:117165686-117165687	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139343844	chr5:117165695-117165696	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547723208	chr5:117165738-117165739	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188901943	chr5:117165768-117165769	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149905360	chr5:117165779-117165780	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549345131	chr5:117165782-117165783	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs117660071	chr5:117165789-117165790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538321286	chr5:117165825-117165826	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs193088238	chr5:117165840-117165841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565684168	chr5:117165843-117165844	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534806789	chr5:117165844-117165845	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs13356924	chr5:117165866-117165867	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183595259	chr5:117165875-117165876	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371699577	chr5:117165888-117165889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73785286	chr5:117165936-117165937	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576391993	chr5:117165939-117165940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368606923	chr5:117165942-117165943	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545122899	chr5:117165952-117165953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117165000-117165400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:117165000-117165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:117165000-117166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:117165200-117165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:117165200-117166000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:117165200-117166000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:117165200-117166000	Enhancers	Spleen	Spleen
8	chr5:117165200-117166400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:117165400-117165800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:117165400-117166000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:117165400-117166000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:117165400-117166000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:117165400-117166400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:117165600-117166000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:117166000-117166200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:117166000-117167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:117167200-117167400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:117169400-117170000	Enhancers	Adipose Nuclei	Adipose
19	chr5:117180600-117181000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:117193800-117194600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:117193800-117200800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:117194000-117195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:117194400-117195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:117194400-117195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:117194600-117195000	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:117194600-117195800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:117194800-117195200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:117195200-117199000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:117195600-117197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:117195800-117196200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:117195800-117198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:117195800-117198800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:117196000-117196600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:117196200-117196400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:117196400-117198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:117197600-117197800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:117197800-117198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:117198200-117199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:117198400-117200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:117198800-117199200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:117198800-117199400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr5:117199000-117200200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:117199400-117199600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:117199600-117200600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr5:117200600-117201000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:117202600-117202800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr5:117205400-117206400	Enhancers	Fetal Brain Female	brain
48	chr5:117208000-117208600	Enhancers	Fetal Muscle Leg	muscle
49	chr5:117208400-117208800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:117208600-117209000	Enhancers	HUES6 Cell Line	embryonic stem cell

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