Variant report

Variant	nsv891387
Chromosome Location	chr8:115591466-115650409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
2	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
3	chr8:115648075..115653566-chr8:115653938..115656968,8	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	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:

Extended variants
information (count: 504 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:504 , 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	rs193169777	chr8:115591850-115591851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4341194	chr8:115591872-115591873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552300134	chr8:115591908-115591909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79216241	chr8:115592039-115592040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547249801	chr8:115592051-115592052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534483840	chr8:115592056-115592057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568811434	chr8:115592083-115592084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112658621	chr8:115592099-115592100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548162892	chr8:115592126-115592127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569680620	chr8:115592135-115592136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567772821	chr8:115592153-115592154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554501007	chr8:115592191-115592192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558393759	chr8:115592229-115592230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542142679	chr8:115592232-115592233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73705341	chr8:115592251-115592252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534547859	chr8:115592317-115592318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184675250	chr8:115592318-115592319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1874516	chr8:115592332-115592333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541722379	chr8:115592352-115592353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7006927	chr8:115592356-115592357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6986969	chr8:115592357-115592358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538854937	chr8:115597605-115597606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183112819	chr8:115597606-115597607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4375035	chr8:115597614-115597615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536520905	chr8:115597631-115597632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554872794	chr8:115597653-115597654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573288574	chr8:115597658-115597659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544238805	chr8:115597682-115597683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555984510	chr8:115597700-115597701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529144509	chr8:115597720-115597721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4375036	chr8:115597731-115597732	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111782530	chr8:115597736-115597737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185467975	chr8:115597739-115597740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572290642	chr8:115597815-115597816	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371767322	chr8:115597832-115597833	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561199728	chr8:115597841-115597842	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531727574	chr8:115597844-115597845	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550195199	chr8:115597845-115597846	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565137594	chr8:115597852-115597853	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201086846	chr8:115597862-115597863	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56145799	chr8:115597868-115597869	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187934840	chr8:115597875-115597876	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565913734	chr8:115597886-115597887	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376012011	chr8:115597887-115597888	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192837630	chr8:115597902-115597903	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7018146	chr8:115597906-115597907	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200225678	chr8:115597914-115597915	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7018272	chr8:115597929-115597930	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556081352	chr8:115597930-115597931	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577578646	chr8:115597944-115597945	Active TSS Enhancers	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115591800-115592200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:115591800-115592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:115597600-115599200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:115597600-115599600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:115597800-115598000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:115597800-115598200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:115597800-115599600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:115598000-115598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:115598000-115598200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:115598000-115598600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr8:115598000-115599200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:115598200-115598400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:115598200-115598400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:115598200-115598600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:115598200-115598600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:115598200-115599000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:115598200-115599000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:115598200-115599200	Active TSS	Hela-S3	cervix
19	chr8:115598400-115598600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:115598400-115598800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:115598600-115599000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:115598600-115599200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:115598600-115599200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:115599200-115600200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:115601000-115601800	Enhancers	Dnd41	blood
26	chr8:115601800-115604200	Weak transcription	Dnd41	blood
27	chr8:115604200-115606400	Enhancers	Dnd41	blood
28	chr8:115618000-115618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:115619600-115620400	Enhancers	Dnd41	blood
30	chr8:115619800-115620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:115619800-115620200	Enhancers	Colon Smooth Muscle	Colon
32	chr8:115621600-115622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:115641600-115642000	Enhancers	Fetal Lung	lung
34	chr8:115649000-115649600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:115649000-115649600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:115649000-115649800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:115649000-115649800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:115649000-115650000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:115649000-115650000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:115649200-115649600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:115649200-115649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:115649200-115649600	Active TSS	Hela-S3	cervix
43	chr8:115649200-115649800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:115649200-115649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:115649200-115649800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:115649800-115650200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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