Variant report

Variant	nsv972244
Chromosome Location	chr8:110389671-110400955
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110399100..110401680-chr8:110403337..110405156,2	K562	blood:
2	chr8:110399789..110401948-chr8:110406839..110408656,2	K562	blood:
3	chr8:110399789..110401392-chr8:110406709..110408339,2	K562	blood:
4	chr8:110388617..110395072-chr8:110396032..110405839,11	K562	blood:
5	chr8:110388617..110395072-chr8:110396032..110405839,11	K562	blood:
6	chr8:110397376..110399556-chr8:110407254..110410081,2	K562	blood:
7	chr8:110397373..110399828-chr8:110505690..110508375,2	K562	blood:
8	chr8:110373158..110374661-chr8:110392938..110394946,2	MCF-7	breast:
9	chr8:110397526..110401680-chr8:110402055..110405525,5	K562	blood:
10	chr8:110376237..110378577-chr8:110400092..110402254,2	K562	blood:
11	chr8:110391499..110394340-chr8:110396610..110400316,3	K562	blood:
12	chr8:110396038..110397766-chr8:110402101..110404529,2	K562	blood:
13	chr8:110391499..110394340-chr8:110396610..110400316,3	K562	blood:
14	chr8:110374002..110377737-chr8:110399223..110401592,3	K562	blood:
15	chr8:110392136..110393759-chr8:110551713..110554181,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147654	chromatin interactions
ENSG00000205038	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186777934	chr8:110390410-110390411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150886569	chr8:110390435-110390436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139301606	chr8:110390447-110390448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558949293	chr8:110390450-110390451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569564102	chr8:110390734-110390735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191537521	chr8:110390739-110390740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184103719	chr8:110390793-110390794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574987140	chr8:110390826-110390827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113798295	chr8:110390858-110390859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554250103	chr8:110390877-110390878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572918612	chr8:110390970-110390971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79754675	chr8:110390999-110391000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574973227	chr8:110391006-110391007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116480360	chr8:110391007-110391008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575189295	chr8:110391058-110391059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2349436	chr8:110391080-110391081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs560595753	chr8:110391081-110391082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146577803	chr8:110391094-110391095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546245385	chr8:110391095-110391096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188568487	chr8:110391097-110391098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532566945	chr8:110391130-110391131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111460872	chr8:110391142-110391143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577326746	chr8:110391150-110391151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181288607	chr8:110391151-110391152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558261999	chr8:110391175-110391176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185016661	chr8:110391178-110391179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567236111	chr8:110391194-110391195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190403815	chr8:110391205-110391206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568423740	chr8:110391206-110391207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534201263	chr8:110391222-110391223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140003005	chr8:110391244-110391245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577297066	chr8:110391286-110391287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78957349	chr8:110391350-110391351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558755676	chr8:110391362-110391363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575179960	chr8:110391371-110391372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544051606	chr8:110391419-110391420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182103606	chr8:110391438-110391439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115284012	chr8:110391476-110391477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540244257	chr8:110391512-110391513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559978672	chr8:110391514-110391515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532276502	chr8:110391532-110391533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79000318	chr8:110391551-110391552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563027968	chr8:110391587-110391588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143613219	chr8:110391592-110391593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116790458	chr8:110392275-110392276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561969717	chr8:110392297-110392298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1457293	chr8:110392318-110392319	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs576769119	chr8:110392338-110392339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543915207	chr8:110392379-110392380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546827681	chr8:110392380-110392381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110390400-110391600	Enhancers	K562	blood
2	chr8:110393200-110393600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110398200-110398600	Enhancers	K562	blood
4	chr8:110398600-110401400	Weak transcription	K562	blood
5	chr8:110399400-110400000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:110399800-110400400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:110400000-110400200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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