Variant report

Variant	nsv1028687
Chromosome Location	chr8:115561602-115618764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
2	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
3	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
4	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
5	chr1:117900151..117901737-chr8:115598411..115599914,2	MCF-7	breast:
6	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
7	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:

Extended variants
information (count: 738 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566385849	chr8:115561620-115561621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12545501	chr8:115561670-115561671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555377069	chr8:115561689-115561690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567003787	chr8:115561713-115561714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537598713	chr8:115561720-115561721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5894207	chr8:115561764-115561765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117762924	chr8:115561791-115561792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532739551	chr8:115561846-115561847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138840378	chr8:115561910-115561911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370169378	chr8:115561920-115561921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577379667	chr8:115561941-115561942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376151477	chr8:115561957-115561958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545207561	chr8:115561961-115561962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58635470	chr8:115562017-115562018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566135308	chr8:115562020-115562021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369032654	chr8:115562021-115562022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374810125	chr8:115562023-115562024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141362275	chr8:115562034-115562035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572336728	chr8:115562131-115562132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12156101	chr8:115562183-115562184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561311734	chr8:115562215-115562216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534750232	chr8:115562219-115562220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368406061	chr8:115562246-115562247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543895469	chr8:115562281-115562282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180853016	chr8:115562283-115562284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113593909	chr8:115562310-115562311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10108622	chr8:115562322-115562323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs371803621	chr8:115562343-115562344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143559441	chr8:115562350-115562351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530453512	chr8:115562383-115562384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548701121	chr8:115562389-115562390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201260576	chr8:115562422-115562423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566966383	chr8:115562472-115562473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565585905	chr8:115562499-115562500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186250430	chr8:115562527-115562528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577424126	chr8:115562609-115562610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541658551	chr8:115562632-115562633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576654817	chr8:115562667-115562668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549420239	chr8:115562689-115562690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571023027	chr8:115562692-115562693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540535957	chr8:115562695-115562696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545590512	chr8:115562700-115562701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559979468	chr8:115562708-115562709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148901756	chr8:115562743-115562744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148053269	chr8:115562858-115562859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572244505	chr8:115562888-115562889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190822569	chr8:115562973-115562974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374246688	chr8:115563036-115563037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573050520	chr8:115563073-115563074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141789342	chr8:115563076-115563077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115559800-115564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:115563800-115568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:115564000-115564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:115564200-115564400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:115564200-115564800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:115564400-115565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:115564600-115565000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:115564600-115566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:115564800-115565200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:115564800-115565800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:115565000-115566000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:115565000-115567000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:115565000-115567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:115565200-115565800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:115565200-115565800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:115565200-115566000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:115565200-115567000	Enhancers	Dnd41	blood
18	chr8:115565200-115567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:115565400-115565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:115565400-115566000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:115565400-115566000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:115565800-115566800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:115565800-115566800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:115566200-115566600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:115566600-115567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:115566800-115567000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:115566800-115567000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:115568000-115568200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:115577400-115578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:115579800-115581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:115581600-115581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:115582400-115582800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:115582400-115582800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:115582600-115583000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:115584600-115584800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:115591800-115592200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:115591800-115592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:115597600-115599200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:115597600-115599600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:115597800-115598000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:115597800-115598200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:115597800-115599600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:115598000-115598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:115598000-115598200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:115598000-115598600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:115598000-115599200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:115598200-115598400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:115598200-115598400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:115598200-115598600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:115598200-115598600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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