Variant report

Variant	nsv980996
Chromosome Location	chr5:117131505-117167955
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	chr5:117125890..117127438-chr5:117130783..117133189,2	MCF-7	breast:
3	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:

Extended variants
information (count: 537 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4256380	chr5:117131512-117131513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535146839	chr5:117131522-117131523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554968911	chr5:117131544-117131545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146854043	chr5:117131573-117131574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377510321	chr5:117131574-117131575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188033767	chr5:117131582-117131583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534167460	chr5:117131587-117131588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76199704	chr5:117131590-117131591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558426005	chr5:117131604-117131605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376589935	chr5:117131605-117131606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140645958	chr5:117131632-117131633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540841028	chr5:117131682-117131683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142568578	chr5:117131698-117131699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574203631	chr5:117131703-117131704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150945498	chr5:117131711-117131712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562778021	chr5:117131731-117131732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551128897	chr5:117131767-117131768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4244395	chr5:117131770-117131771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545025609	chr5:117131789-117131790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7735815	chr5:117131819-117131820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4920992	chr5:117131844-117131845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs60450131	chr5:117131856-117131857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566306772	chr5:117131863-117131864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528986261	chr5:117131864-117131865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79306193	chr5:117131869-117131870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36066011	chr5:117131891-117131892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568804451	chr5:117131909-117131910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140748994	chr5:117131913-117131914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141173225	chr5:117131925-117131926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557429610	chr5:117131927-117131928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571927261	chr5:117131952-117131953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192836247	chr5:117132010-117132011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183758971	chr5:117132057-117132058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12655842	chr5:117132086-117132087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557689510	chr5:117132109-117132110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543185724	chr5:117132110-117132111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4244396	chr5:117132151-117132152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs138967052	chr5:117132194-117132195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545400737	chr5:117132234-117132235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115790511	chr5:117132240-117132241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141418064	chr5:117132247-117132248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59109174	chr5:117132268-117132269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543185675	chr5:117132269-117132270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540117944	chr5:117132301-117132302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76455380	chr5:117132305-117132306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187794849	chr5:117132307-117132308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548859492	chr5:117132395-117132396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562614498	chr5:117132416-117132417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531276807	chr5:117132426-117132427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34467239	chr5:117132442-117132443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117131200-117136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:117132600-117133000	Enhancers	Fetal Intestine Large	intestine
3	chr5:117136000-117136400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:117136000-117136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:117136000-117136400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:117136200-117136600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:117136400-117137800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:117136600-117138800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:117137800-117138200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:117138800-117139200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:117140400-117141200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:117140600-117141200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:117140600-117141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:117140800-117141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:117141000-117141400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:117144800-117145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:117144800-117145600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:117145400-117145600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:117148400-117149200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:117165000-117165400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:117165000-117165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:117165000-117166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:117165200-117165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:117165200-117166000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:117165200-117166000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:117165200-117166000	Enhancers	Spleen	Spleen
27	chr5:117165200-117166400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:117165400-117165800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:117165400-117166000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:117165400-117166000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:117165400-117166000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:117165400-117166400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:117165600-117166000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:117166000-117166200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:117166000-117167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:117167200-117167400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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