Variant report

Variant	nsv891396
Chromosome Location	chr8:115698493-115781895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:
2	chr7:120719872..120722285-chr8:115706379..115707879,2	K562	blood:
3	chr8:115690493..115692779-chr8:115729828..115731998,2	K562	blood:
4	chr8:115777295..115780044-chr8:115780292..115782239,2	MCF-7	breast:

Extended variants
information (count: 858 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7826427	chr8:115724639-115724640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567979255	chr8:115724647-115724648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148052080	chr8:115724702-115724703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73705369	chr8:115724744-115724745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7844837	chr8:115724746-115724747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568486405	chr8:115724768-115724769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192074322	chr8:115724773-115724774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182717017	chr8:115724809-115724810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187398092	chr8:115724923-115724924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377656009	chr8:115724927-115724928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534019878	chr8:115724940-115724941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7830645	chr8:115724941-115724942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573895271	chr8:115724990-115724991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200021471	chr8:115725021-115725022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73705370	chr8:115725041-115725042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116502663	chr8:115725045-115725046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573762931	chr8:115725062-115725063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191528784	chr8:115725083-115725084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7462721	chr8:115725090-115725091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76073518	chr8:115725097-115725098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572429267	chr8:115725114-115725115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543242016	chr8:115725344-115725345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79139770	chr8:115725345-115725346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185007576	chr8:115725347-115725348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189121383	chr8:115725381-115725382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192799863	chr8:115725429-115725430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555908438	chr8:115725435-115725436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111700264	chr8:115725479-115725480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562154124	chr8:115725518-115725519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2357698	chr8:115725545-115725546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138061611	chr8:115725713-115725714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566594760	chr8:115725913-115725914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533615531	chr8:115725970-115725971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549182317	chr8:115726085-115726086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567301488	chr8:115726107-115726108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538145119	chr8:115726127-115726128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185550619	chr8:115726149-115726150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12546367	chr8:115726164-115726165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539065993	chr8:115726167-115726168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189286605	chr8:115726203-115726204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572522063	chr8:115726214-115726215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542730306	chr8:115726257-115726258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6988312	chr8:115726314-115726315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7006212	chr8:115726321-115726322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565284611	chr8:115726329-115726330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532650208	chr8:115726341-115726342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551370663	chr8:115726342-115726343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559866679	chr8:115726371-115726372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142576477	chr8:115726374-115726375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117277348	chr8:115726404-115726405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115724600-115725800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:115724800-115725200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:115724800-115725600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:115725000-115726400	Enhancers	Hela-S3	cervix
5	chr8:115725600-115729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:115729200-115730200	Enhancers	Dnd41	blood
7	chr8:115729600-115730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:115730200-115732400	Weak transcription	Dnd41	blood
9	chr8:115732400-115732600	Enhancers	Dnd41	blood
10	chr8:115736000-115738200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:115740600-115741800	Enhancers	Dnd41	blood
12	chr8:115758200-115758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:115758600-115758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:115761800-115762000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:115767200-115767600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:115767200-115768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:115767400-115767800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:115768600-115769200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:115778600-115779200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:115778800-115779400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:115779000-115779800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:115779200-115779600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:115779600-115779800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:115780000-115780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:115781000-115781200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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