Variant report

Variant	nsv517213
Chromosome Location	chr8:1906630-1913134
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

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

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

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

No data

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

Extended variants
information (count: 374 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:374 , 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	rs14375	chr8:1906630-1906631	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186669581	chr8:1906631-1906632	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529451244	chr8:1906638-1906639	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549521924	chr8:1906646-1906647	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569376365	chr8:1906651-1906652	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537902995	chr8:1906652-1906653	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11986753	chr8:1906709-1906710	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571131566	chr8:1906712-1906713	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570904546	chr8:1906722-1906723	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533567930	chr8:1906724-1906725	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192510268	chr8:1906768-1906769	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs75760349	chr8:1906808-1906809	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs151183253	chr8:1906818-1906819	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs183834682	chr8:1906820-1906821	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs75646596	chr8:1906862-1906863	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs141379218	chr8:1906874-1906875	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs146526009	chr8:1906880-1906881	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs578055909	chr8:1906888-1906889	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs187914836	chr8:1906890-1906891	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs147911976	chr8:1906930-1906931	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs529565557	chr8:1906934-1906935	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs549418753	chr8:1906955-1906956	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs141520523	chr8:1906961-1906962	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs191109197	chr8:1906970-1906971	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182573431	chr8:1906987-1906988	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs571042087	chr8:1907000-1907001	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs78812785	chr8:1907017-1907018	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546959995	chr8:1907063-1907064	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs113144950	chr8:1907085-1907086	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536506049	chr8:1907139-1907140	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs61698149	chr8:1907153-1907154	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564486952	chr8:1907216-1907217	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs367837468	chr8:1907217-1907218	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs187139695	chr8:1907238-1907239	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538865751	chr8:1907255-1907256	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558268733	chr8:1907302-1907303	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs578120177	chr8:1907316-1907317	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs76324470	chr8:1907344-1907345	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs533228414	chr8:1907359-1907360	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs554092372	chr8:1907375-1907376	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573964169	chr8:1907390-1907391	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs543299844	chr8:1907404-1907405	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs191582867	chr8:1907414-1907415	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547072596	chr8:1907476-1907477	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs531916635	chr8:1907514-1907515	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs115454681	chr8:1907562-1907563	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs185466151	chr8:1907573-1907574	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs527338933	chr8:1907582-1907583	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189944663	chr8:1907595-1907596	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs567243844	chr8:1907632-1907633	Weak transcription Enhancers Strong transcription	lncRNA	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:240 , 50 per page) page: 1 2 3 4 5

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	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
4	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:1900200-1909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:1901600-1907000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:1902200-1907600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:1902200-1907600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:1902400-1907200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:1903600-1906800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:1903600-1906800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:1903600-1908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:1903600-1908400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:1903600-1909400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:1904000-1908000	Weak transcription	NHEK	skin
19	chr8:1904400-1907600	Weak transcription	Fetal Thymus	thymus
20	chr8:1904400-1908000	Strong transcription	Dnd41	blood
21	chr8:1904800-1906800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:1904800-1907000	Enhancers	Fetal Brain Male	brain
23	chr8:1905000-1909600	Enhancers	Liver	Liver
24	chr8:1905200-1908800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:1905400-1906800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:1905400-1909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:1905600-1907000	Enhancers	NHLF	lung
28	chr8:1905600-1908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:1905600-1908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:1905600-1910800	Weak transcription	Gastric	stomach
31	chr8:1905600-1921000	Weak transcription	Aorta	Aorta
32	chr8:1905800-1907400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:1905800-1908200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:1905800-1916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:1906000-1906800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:1906000-1906800	Enhancers	Fetal Heart	heart
37	chr8:1906000-1907000	Enhancers	Brain Substantia Nigra	brain
38	chr8:1906000-1907000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:1906000-1907000	Enhancers	HSMMtube	muscle
40	chr8:1906000-1907200	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:1906000-1907200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr8:1906000-1911200	Weak transcription	HMEC	breast
43	chr8:1906000-1914200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:1906200-1906800	Enhancers	Brain Hippocampus Middle	brain
45	chr8:1906200-1906800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:1906200-1907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:1906200-1907000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:1906200-1907000	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:1906200-1907000	Enhancers	Spleen	Spleen
50	chr8:1906200-1907000	Enhancers	HSMM	muscle

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