Variant report

Variant	nsv889735
Chromosome Location	chr8:1892069-1907855
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:1)
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	chr8:1907491..1909196-chr8:1911477..1913920,2	K562	blood:
2	chr8:1906659..1908488-chr8:1948019..1949630,2	MCF-7	breast:
3	chr8:1876158..1879042-chr8:1903928..1907345,3	K562	blood:
4	chr8:1904438..1906943-chr8:1908364..1910920,2	K562	blood:
5	chr8:1869392..1872141-chr8:1901807..1903545,2	K562	blood:
6	chr8:1900404..1902135-chr8:1904270..1906707,2	K562	blood:
7	chr8:1900404..1902135-chr8:1904270..1906707,2	K562	blood:
8	chr8:1902551..1904412-chr8:1906073..1908055,2	K562	blood:
9	chr8:1888469..1891151-chr8:1893688..1896485,2	K562	blood:
10	chr8:1902551..1904412-chr8:1906073..1908055,2	K562	blood:
11	chr8:1905928..1907788-chr8:1909949..1911807,2	MCF-7	breast:
12	chr8:1887349..1889723-chr8:1904508..1906219,2	K562	blood:

(count:1 , 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

No data

Variant related genes	Relation type
ENSG00000104728	chromatin interactions

Extended variants
information (count: 989 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13262708	chr8:1892069-1892070	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551597078	chr8:1892086-1892087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74624322	chr8:1892091-1892092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553326826	chr8:1892105-1892106	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59960233	chr8:1892116-1892117	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542017347	chr8:1892120-1892121	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554757324	chr8:1892125-1892126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375638052	chr8:1892126-1892127	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67024052	chr8:1892127-1892128	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183838476	chr8:1892185-1892186	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116352023	chr8:1892237-1892238	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188951473	chr8:1892241-1892242	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115340814	chr8:1892242-1892243	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532391134	chr8:1892245-1892246	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546039301	chr8:1892246-1892247	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112327284	chr8:1892247-1892248	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559626433	chr8:1892254-1892255	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13254694	chr8:1892255-1892256	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115712554	chr8:1892264-1892265	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76498815	chr8:1892272-1892273	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57010837	chr8:1892276-1892277	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181567770	chr8:1892277-1892278	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11136446	chr8:1892282-1892283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12681108	chr8:1892291-1892292	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371453712	chr8:1892295-1892296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374908328	chr8:1892304-1892305	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11136447	chr8:1892310-1892311	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570436246	chr8:1892312-1892313	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539445238	chr8:1892324-1892325	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546876691	chr8:1892352-1892353	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555438358	chr8:1892372-1892373	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111463181	chr8:1892376-1892377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148391685	chr8:1892382-1892383	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4385504	chr8:1892399-1892400	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185759727	chr8:1892415-1892416	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184646264	chr8:1892417-1892418	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190535592	chr8:1892421-1892422	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150065855	chr8:1892430-1892431	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76491266	chr8:1892466-1892467	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560250434	chr8:1892496-1892497	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553211609	chr8:1892562-1892563	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545832127	chr8:1892567-1892568	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17830054	chr8:1892619-1892620	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573505628	chr8:1892643-1892644	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs542044899	chr8:1892644-1892645	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs182303504	chr8:1892645-1892646	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs79049487	chr8:1892647-1892648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147709381	chr8:1892677-1892678	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs564181382	chr8:1892816-1892817	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs542699715	chr8:1892835-1892836	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
6	chr8:1883000-1896200	Weak transcription	NH-A	brain
7	chr8:1884200-1894200	Weak transcription	NHDF-Ad	bronchial
8	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
9	chr8:1884400-1892600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:1884400-1895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:1884600-1898400	Weak transcription	Hela-S3	cervix
13	chr8:1884600-1906200	Weak transcription	A549	lung
14	chr8:1884800-1892800	Weak transcription	Brain Angular Gyrus	brain
15	chr8:1885400-1892200	Weak transcription	Pancreas	Pancrea
16	chr8:1885400-1893000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:1885400-1900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:1885800-1893400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:1885800-1894200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:1886000-1892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:1886000-1896400	Weak transcription	HSMMtube	muscle
22	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:1886400-1893600	Weak transcription	Spleen	Spleen
24	chr8:1887000-1893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:1887800-1892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:1887800-1898000	Weak transcription	Left Ventricle	heart
27	chr8:1887800-1900400	Weak transcription	Gastric	stomach
28	chr8:1888000-1892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:1888000-1892600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:1888000-1893000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:1888000-1893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:1888000-1893200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:1888000-1893200	Weak transcription	NHLF	lung
34	chr8:1888000-1893400	Weak transcription	Ovary	ovary
35	chr8:1888000-1893800	Weak transcription	Lung	lung
36	chr8:1888000-1895400	Weak transcription	Esophagus	oesophagus
37	chr8:1888000-1896000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:1888000-1904800	Weak transcription	HMEC	breast
39	chr8:1888200-1892200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1888200-1893200	Weak transcription	Right Ventricle	heart
41	chr8:1888200-1894400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:1888200-1894600	Weak transcription	Aorta	Aorta
43	chr8:1888400-1893000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:1888400-1896600	Weak transcription	NHEK	skin
45	chr8:1888600-1892400	Weak transcription	Fetal Brain Female	brain
46	chr8:1889000-1893000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:1889000-1893200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:1889000-1894600	Weak transcription	Osteobl	bone
49	chr8:1889000-1896600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:1889400-1893200	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links