Variant report

Variant	nsv891397
Chromosome Location	chr8:115810385-116129344
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52437356..52438234-chr8:116087383..116088293,2	MCF-7	breast:
2	chr8:116118717..116120924-chr8:116130705..116133037,2	MCF-7	breast:
3	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
4	chr8:115915009..115917455-chr8:115920536..115922270,2	MCF-7	breast:
5	chr8:115857407..115858047-chr8:116088791..116089518,2	MCF-7	breast:
6	chr8:115858454..115859582-chr8:116088622..116089592,9	MCF-7	breast:
7	chr8:115858302..115859090-chr8:116110965..116111686,2	MCF-7	breast:
8	chr8:116037155..116040113-chr8:116065059..116067107,2	MCF-7	breast:
9	chr8:116105700..116107670-chr8:116108228..116110232,2	MCF-7	breast:
10	chr8:115929754..115932534-chr8:115934000..115935669,2	MCF-7	breast:
11	chr8:115858972..115859777-chr8:116088522..116089323,3	MCF-7	breast:
12	chr8:115857407..115858047-chr8:116088791..116089518,2	MCF-7	breast:
13	chr8:115858454..115859582-chr8:116088622..116089592,9	MCF-7	breast:
14	chr8:115929754..115932534-chr8:115934000..115935669,2	MCF-7	breast:
15	chr8:115858302..115859090-chr8:116110965..116111686,2	MCF-7	breast:
16	chr8:115915009..115917455-chr8:115920536..115922270,2	MCF-7	breast:
17	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
18	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:
19	chr8:115989423..115991181-chr8:116008876..116011077,2	MCF-7	breast:
20	chr8:115932881..115936964-chr8:115939898..115942520,3	MCF-7	breast:
21	chr8:115801565..115802207-chr8:116111087..116111614,2	MCF-7	breast:
22	chr8:115858790..115859787-chr8:116127493..116128052,2	MCF-7	breast:
23	chr8:115858587..115859263-chr8:116111343..116112027,3	MCF-7	breast:
24	chr8:116122466..116125390-chr8:116126954..116128703,2	MCF-7	breast:
25	chr8:115858350..115859560-chr8:116127592..116129068,6	MCF-7	breast:
26	chr8:115858350..115859560-chr8:116127592..116129068,6	MCF-7	breast:
27	chr8:116037155..116040113-chr8:116065059..116067107,2	MCF-7	breast:
28	chr8:115858587..115859263-chr8:116111343..116112027,3	MCF-7	breast:
29	chr8:116105700..116107670-chr8:116108228..116110232,2	MCF-7	breast:
30	chr8:115989423..115991181-chr8:116008876..116011077,2	MCF-7	breast:
31	chr8:115932881..115936964-chr8:115939898..115942520,3	MCF-7	breast:
32	chr8:116127927..116129475-chr8:116129633..116132436,2	MCF-7	breast:
33	chr8:115858972..115859777-chr8:116088522..116089323,3	MCF-7	breast:
34	chr8:115858790..115859787-chr8:116127493..116128052,2	MCF-7	breast:
35	chr8:116128224..116130315-chr8:116157752..116160584,2	K562	blood:
36	chr15:50843592..50846048-chr8:116105548..116107246,2	MCF-7	breast:

No data

Extended variants
information (count: 5518 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5518 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1470969	chr8:115810385-115810386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557005408	chr8:115810397-115810398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117198361	chr8:115810418-115810419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571271449	chr8:115810525-115810526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147360714	chr8:115810566-115810567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367786010	chr8:115810629-115810630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1470970	chr8:115810630-115810631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534048423	chr8:115810643-115810644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5894220	chr8:115810644-115810645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1470971	chr8:115810685-115810686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138011252	chr8:115810782-115810783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182148756	chr8:115810783-115810784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540882397	chr8:115810865-115810866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80154879	chr8:115810964-115810965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74946982	chr8:115810986-115810987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186877842	chr8:115810996-115810997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541825726	chr8:115810997-115810998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573779611	chr8:115811034-115811035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190948297	chr8:115811063-115811064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147169410	chr8:115811073-115811074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183529257	chr8:115811143-115811144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148652586	chr8:115811152-115811153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142178585	chr8:115811215-115811216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148163722	chr8:115811228-115811229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188633439	chr8:115811234-115811235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529275869	chr8:115811257-115811258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139218518	chr8:115811267-115811268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115681179	chr8:115811349-115811350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143565031	chr8:115811357-115811358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558081325	chr8:115811368-115811369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539814807	chr8:115811369-115811370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75147389	chr8:115811391-115811392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556054621	chr8:115811394-115811395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574372854	chr8:115811445-115811446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553368562	chr8:115811468-115811469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192999301	chr8:115811479-115811480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185306541	chr8:115811487-115811488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187811574	chr8:115811498-115811499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367656576	chr8:115811530-115811531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564141018	chr8:115811645-115811646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115547262	chr8:115811704-115811705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139610923	chr8:115811724-115811725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545931565	chr8:115811778-115811779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200241194	chr8:115811790-115811791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35085270	chr8:115811804-115811805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529139485	chr8:115811808-115811809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528467543	chr8:115811833-115811834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550567039	chr8:115811865-115811866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568872860	chr8:115811918-115811919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191740473	chr8:115811981-115811982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115809200-115810400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:115809400-115815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:115815400-115817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:115815800-115816400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:115816200-115816600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:115833400-115833800	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr8:115833600-115834000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:115840800-115842000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:115841000-115841800	Enhancers	HUVEC	blood vessel
10	chr8:115847200-115847600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:115848600-115849000	Enhancers	Aorta	Aorta
12	chr8:115848600-115849600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:115848800-115849000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:115848800-115849000	Enhancers	Pancreas	Pancrea
15	chr8:115849200-115849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:115849600-115852400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:115852200-115852800	Enhancers	Hela-S3	cervix
18	chr8:115852400-115853000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:115855000-115856000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:115855200-115856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:115856000-115862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:115862000-115862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:115862600-115863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:115863600-115866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:115863800-115864400	Enhancers	HSMMtube	muscle
26	chr8:115863800-115864600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:115864400-115867800	Weak transcription	HSMMtube	muscle
28	chr8:115864600-115868000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:115866000-115867800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:115867800-115868600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:115867800-115868600	Enhancers	HSMM	muscle
32	chr8:115867800-115868600	Enhancers	HSMMtube	muscle
33	chr8:115867800-115868600	Enhancers	NH-A	brain
34	chr8:115867800-115868800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:115868000-115868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:115868000-115868600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:115868000-115868600	Enhancers	NHDF-Ad	bronchial
38	chr8:115868200-115868600	Enhancers	Osteobl	bone
39	chr8:115868600-115874000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:115874000-115874800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:115880800-115882400	Enhancers	Dnd41	blood
42	chr8:115891600-115892200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:115891800-115892200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:115892000-115892800	Enhancers	Fetal Brain Female	brain
45	chr8:115895400-115896200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:115895400-115896200	Enhancers	Liver	Liver
47	chr8:115909000-115910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:115909400-115910200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:115915600-115917400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:115916000-115917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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