Variant report

Variant	nsv972209
Chromosome Location	chr8:39189305-39220648
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:39204717..39207276-chr8:39207847..39209394,2	K562	blood:
2	chr8:39202201..39204201-chr8:39430573..39432669,2	K562	blood:
3	chr8:39204717..39207276-chr8:39207847..39209394,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM32-1	chr8:39203380-39203563	NONHSAT147629
2	lnc-ADAM32-1	chr8:39192919-39193012	NONHSAT126157
3	lnc-ADAM32-1	chr8:39192919-39193008	NONHSAT126156
4	lnc-ADAM32-1	chr8:39203380-39203563	NONHSAT147628
5	lnc-ADAM32-1	chr8:39203380-39203563	NONHSAT126155
6	lnc-ADAM32-1	chr8:39203380-39203563	NONHSAT126148

No data

Extended variants
information (count: 115 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368935796	chr8:39189316-39189317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201683103	chr8:39189323-39189324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111536025	chr8:39189350-39189351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370588232	chr8:39189374-39189375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552910138	chr8:39189378-39189379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77209597	chr8:39189435-39189436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114205325	chr8:39189440-39189441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4076224	chr8:39189481-39189482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139990963	chr8:39189623-39189624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192873133	chr8:39189627-39189628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563977982	chr8:39189658-39189659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184305619	chr8:39189660-39189661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540188217	chr8:39189736-39189737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371347898	chr8:39189780-39189781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560526060	chr8:39189795-39189796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529238521	chr8:39189800-39189801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375228655	chr8:39189813-39189814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367869032	chr8:39189814-39189815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531853684	chr8:39189828-39189829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187497164	chr8:39189840-39189841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192328025	chr8:39189863-39189864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538380842	chr8:39189870-39189871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534491056	chr8:39189903-39189904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554134699	chr8:39189909-39189910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4330659	chr8:39189956-39189957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568472838	chr8:39190205-39190206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374545863	chr8:39190221-39190222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4236760	chr8:39190232-39190233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557510417	chr8:39190261-39190262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577798721	chr8:39190292-39190293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540440249	chr8:39190303-39190304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560161036	chr8:39190337-39190338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529191939	chr8:39190431-39190432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386724629	chr8:39190461-39190462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192185996	chr8:39190514-39190515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13266652	chr8:39190515-39190516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531816813	chr8:39190533-39190534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527781577	chr8:39190609-39190610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551937799	chr8:39190637-39190638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10107719	chr8:39190667-39190668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184564440	chr8:39190672-39190673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547970290	chr8:39190740-39190741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111544932	chr8:39190791-39190792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189280000	chr8:39190821-39190822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369432680	chr8:39190890-39190891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371814356	chr8:39190898-39190899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570494767	chr8:39191054-39191055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554938217	chr8:39191263-39191264	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568543133	chr8:39191292-39191293	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537533665	chr8:39191310-39191311	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39188000-39189400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:39188000-39189400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:39189200-39189800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:39189400-39189800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:39189400-39189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:39189600-39190000	Enhancers	Fetal Stomach	stomach
7	chr8:39190200-39191000	Enhancers	Fetal Kidney	kidney
8	chr8:39190400-39191600	Enhancers	Fetal Lung	lung
9	chr8:39191200-39191400	Enhancers	Osteobl	bone
10	chr8:39191200-39191600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:39210800-39211400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:39215000-39215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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