Variant report

Variant	nsv891393
Chromosome Location	chr8:115632043-115674664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:
2	chr8:115659374..115661698-chr8:115661998..115664960,2	K562	blood:
3	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:
4	chr8:115661718..115664007-chr8:115669126..115671791,3	MCF-7	breast:
5	chr8:115659374..115661698-chr8:115661998..115664960,2	K562	blood:
6	chr8:115672072..115674902-chr8:115675428..115678154,2	MCF-7	breast:
7	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-5	chr8:115660594-115660666	NONHSAT128359

No data

Extended variants
information (count: 397 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184043075	chr8:115641642-115641643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16886186	chr8:115641645-115641646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369518137	chr8:115641666-115641667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544214494	chr8:115641677-115641678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189393522	chr8:115641724-115641725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533035704	chr8:115641731-115641732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548639581	chr8:115641773-115641774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551622387	chr8:115641794-115641795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148262026	chr8:115641819-115641820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7846669	chr8:115641841-115641842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549057097	chr8:115641851-115641852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10110885	chr8:115641882-115641883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537883235	chr8:115641924-115641925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72688182	chr8:115641954-115641955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147244535	chr8:115641958-115641959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180976528	chr8:115641973-115641974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79446032	chr8:115641978-115641979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540093691	chr8:115641987-115641988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544432083	chr8:115649053-115649054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562630294	chr8:115649062-115649063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147018326	chr8:115649082-115649083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560348650	chr8:115649094-115649095	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370622668	chr8:115649099-115649100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551433303	chr8:115649104-115649105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566748144	chr8:115649122-115649123	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9297529	chr8:115649127-115649128	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548938366	chr8:115649139-115649140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567439166	chr8:115649171-115649172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9297530	chr8:115649176-115649177	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568879781	chr8:115649181-115649182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186544200	chr8:115649193-115649194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144681335	chr8:115649194-115649195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191354359	chr8:115649195-115649196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs148523958	chr8:115649200-115649201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572680023	chr8:115649207-115649208	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540253441	chr8:115649208-115649209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555365578	chr8:115649215-115649216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117884949	chr8:115649239-115649240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544276047	chr8:115649240-115649241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs116171107	chr8:115649243-115649244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573788800	chr8:115649250-115649251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183279886	chr8:115649255-115649256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141914632	chr8:115649260-115649261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376952033	chr8:115649275-115649276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551045248	chr8:115649294-115649295	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371626631	chr8:115649310-115649311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185835471	chr8:115649319-115649320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570748853	chr8:115649328-115649329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150666818	chr8:115649356-115649357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539599243	chr8:115649357-115649358	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115641600-115642000	Enhancers	Fetal Lung	lung
2	chr8:115649000-115649600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:115649000-115649600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:115649000-115649800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:115649000-115649800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:115649000-115650000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:115649000-115650000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:115649200-115649600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:115649200-115649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:115649200-115649600	Active TSS	Hela-S3	cervix
11	chr8:115649200-115649800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:115649200-115649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:115649200-115649800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:115649800-115650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:115653600-115654000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:115653600-115654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:115656800-115657400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:115657400-115661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:115658800-115659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:115659400-115662200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:115661200-115661800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:115661200-115664200	Enhancers	Dnd41	blood
23	chr8:115661800-115663200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:115663400-115663600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:115664200-115665200	Flanking Active TSS	Dnd41	blood
26	chr8:115670200-115670600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:115670400-115670800	Enhancers	Dnd41	blood

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