Variant report

Variant	nsv609555
Chromosome Location	chr8:1904157-1913134
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1905928..1907788-chr8:1909949..1911807,2	MCF-7	breast:
2	chr8:1904438..1906943-chr8:1908364..1910920,2	K562	blood:
3	chr8:1887349..1889723-chr8:1904508..1906219,2	K562	blood:
4	chr8:1904438..1906943-chr8:1908364..1910920,2	K562	blood:
5	chr8:1911383..1914358-chr8:1918883..1921800,2	MCF-7	breast:
6	chr8:1910618..1913298-chr8:1921170..1922936,2	MCF-7	breast:
7	chr8:1902551..1904412-chr8:1906073..1908055,2	K562	blood:
8	chr8:1907491..1909196-chr8:1911477..1913920,2	K562	blood:
9	chr8:1907491..1909196-chr8:1911477..1913920,2	K562	blood:
10	chr8:1900404..1902135-chr8:1904270..1906707,2	K562	blood:
11	chr8:1902551..1904412-chr8:1906073..1908055,2	K562	blood:
12	chr8:1906659..1908488-chr8:1948019..1949630,2	MCF-7	breast:
13	chr8:1876158..1879042-chr8:1903928..1907345,3	K562	blood:
14	chr8:1905928..1907788-chr8:1909949..1911807,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-18	chr8:1908721-1909149	l_3533_chr8:1906703-1909044_brain
2	lnc-CSMD1-18	chr8:1906704-1908609	l_3533_chr8:1906703-1909044_brain

No data

Variant related genes	Relation type
ENSG00000253696	chromatin interactions
ENSG00000253764	chromatin interactions
ENSG00000176595	chromatin interactions

Extended variants
information (count: 522 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4876268	chr8:1904157-1904158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565698044	chr8:1904160-1904161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528345984	chr8:1904174-1904175	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146555377	chr8:1904178-1904179	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568251320	chr8:1904181-1904182	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536894011	chr8:1904187-1904188	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs118166117	chr8:1904192-1904193	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570085357	chr8:1904210-1904211	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539139211	chr8:1904245-1904246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543062704	chr8:1904255-1904256	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6999840	chr8:1904264-1904265	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs572112089	chr8:1904278-1904279	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541287802	chr8:1904295-1904296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544227270	chr8:1904319-1904320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4876267	chr8:1904365-1904366	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191930928	chr8:1904386-1904387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139029441	chr8:1904389-1904390	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143041886	chr8:1904412-1904413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546775465	chr8:1904414-1904415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545915335	chr8:1904470-1904471	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559348937	chr8:1904482-1904483	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6989473	chr8:1904505-1904506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548498322	chr8:1904520-1904521	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185100140	chr8:1904544-1904545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530716194	chr8:1904561-1904562	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550469446	chr8:1904577-1904578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368370890	chr8:1904579-1904580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570647174	chr8:1904581-1904582	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143808895	chr8:1904617-1904618	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528282976	chr8:1904667-1904668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559518414	chr8:1904709-1904710	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563606875	chr8:1904719-1904720	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148174991	chr8:1904727-1904728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142021358	chr8:1904731-1904732	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150658922	chr8:1904753-1904754	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575067495	chr8:1904764-1904765	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537768190	chr8:1904793-1904794	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530979328	chr8:1904800-1904801	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs59021972	chr8:1904827-1904828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528338235	chr8:1904840-1904841	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376368684	chr8:1904912-1904913	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141775950	chr8:1904937-1904938	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577376669	chr8:1904965-1904966	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150598687	chr8:1904975-1904976	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200779877	chr8:1904983-1904984	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs199800515	chr8:1904985-1904986	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140499510	chr8:1904992-1904993	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201700871	chr8:1905031-1905032	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147825414	chr8:1905038-1905039	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200561292	chr8:1905042-1905043	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
4	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:1884600-1906200	Weak transcription	A549	lung
6	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:1888000-1904800	Weak transcription	HMEC	breast
8	chr8:1889400-1905000	Weak transcription	HSMM	muscle
9	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
10	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
12	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:1894000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:1894200-1904800	Weak transcription	Ovary	ovary
17	chr8:1894200-1905000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:1895200-1904600	Weak transcription	Fetal Lung	lung
19	chr8:1895600-1904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:1895600-1905600	Weak transcription	NHLF	lung
21	chr8:1895600-1906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:1896600-1904800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:1896800-1905200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:1897400-1906000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:1897600-1906200	Weak transcription	NH-A	brain
27	chr8:1898200-1905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:1898400-1904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:1898400-1906000	Weak transcription	HSMMtube	muscle
30	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:1898600-1904600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:1898600-1904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:1898600-1905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:1898600-1905000	Weak transcription	Left Ventricle	heart
35	chr8:1898600-1905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:1898800-1906000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:1900200-1905600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:1900200-1909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:1900400-1904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:1901000-1904800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:1901000-1904800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:1901000-1905000	Weak transcription	Pancreas	Pancrea
43	chr8:1901000-1906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:1901000-1906200	Weak transcription	Right Ventricle	heart
45	chr8:1901000-1906600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:1901600-1906600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:1901600-1907000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:1902200-1904600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:1902200-1904800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:1902200-1904800	Weak transcription	Brain Hippocampus Middle	brain

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