Variant report

Variant	nsv890958
Chromosome Location	chr8:63278209-63327490
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63319277..63321241-chr8:63321848..63324051,2	K562	blood:
2	chr8:63318987..63320777-chr8:63321010..63323348,2	K562	blood:
3	chr8:63043534..63044140-chr8:63317610..63318142,2	MCF-7	breast:
4	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:
5	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
6	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
7	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
8	chr8:62722647..62723219-chr8:63317559..63318273,2	MCF-7	breast:
9	chr8:63052210..63052840-chr8:63317439..63317973,2	MCF-7	breast:
10	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
11	chr8:63318987..63320777-chr8:63321010..63323348,2	K562	blood:
12	chr8:63319277..63321241-chr8:63321848..63324051,2	K562	blood:
13	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:

No data

Extended variants
information (count: 1924 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1924 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2351667	chr8:63278209-63278210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191496691	chr8:63278219-63278220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566196483	chr8:63278252-63278253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546257693	chr8:63278286-63278287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183557713	chr8:63278294-63278295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577111306	chr8:63278307-63278308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2351666	chr8:63278309-63278310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559506341	chr8:63278326-63278327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199588920	chr8:63278334-63278335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541209255	chr8:63278335-63278336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377561520	chr8:63278415-63278416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528445037	chr8:63278438-63278439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541545903	chr8:63278446-63278447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140576523	chr8:63278456-63278457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73259213	chr8:63278460-63278461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551802874	chr8:63278468-63278469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7819648	chr8:63278491-63278492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7819419	chr8:63278501-63278502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7837633	chr8:63278505-63278506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7819669	chr8:63278533-63278534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374687184	chr8:63278538-63278539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535700492	chr8:63278557-63278558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557576917	chr8:63278568-63278569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569417071	chr8:63278630-63278631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150423710	chr8:63278664-63278665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533230930	chr8:63278698-63278699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6472015	chr8:63278754-63278755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377115610	chr8:63278783-63278784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75929919	chr8:63278786-63278787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74797064	chr8:63278787-63278788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537798103	chr8:63278797-63278798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573112559	chr8:63278811-63278812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550829371	chr8:63278814-63278815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6472016	chr8:63278846-63278847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552962441	chr8:63278847-63278848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6472017	chr8:63278854-63278855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541657667	chr8:63278907-63278908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200499073	chr8:63278908-63278909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563133542	chr8:63278911-63278912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386726126	chr8:63278931-63278932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4738959	chr8:63278933-63278934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193216094	chr8:63278934-63278935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528047621	chr8:63278935-63278936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546555517	chr8:63278942-63278943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562280540	chr8:63278952-63278953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182316480	chr8:63278986-63278987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369340443	chr8:63279006-63279007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538584169	chr8:63279036-63279037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6989333	chr8:63279077-63279078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569425151	chr8:63279149-63279150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63276000-63281800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:63276200-63281600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:63281000-63281200	Enhancers	Fetal Intestine Large	intestine
4	chr8:63281000-63281200	Enhancers	Fetal Intestine Small	intestine
5	chr8:63281200-63282000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:63281400-63282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:63281400-63282000	Enhancers	A549	lung
8	chr8:63281400-63282200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:63281400-63283600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:63281600-63283800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:63281800-63283000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:63281800-63283800	Enhancers	Fetal Kidney	kidney
13	chr8:63281800-63284200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:63282000-63282600	Flanking Active TSS	A549	lung
15	chr8:63282000-63282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:63282000-63283000	Enhancers	Fetal Intestine Large	intestine
17	chr8:63282000-63283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:63282000-63283600	Enhancers	Fetal Lung	lung
19	chr8:63282000-63283600	Enhancers	NH-A	brain
20	chr8:63282200-63282600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:63282200-63283000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:63282200-63283000	Enhancers	Fetal Intestine Small	intestine
23	chr8:63282600-63283600	Active TSS	A549	lung
24	chr8:63282800-63284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:63283000-63284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:63283600-63284000	Flanking Active TSS	A549	lung
27	chr8:63283600-63286800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:63284000-63284800	Enhancers	A549	lung
29	chr8:63284400-63284600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:63284600-63284800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:63286800-63287000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:63289400-63290000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:63289800-63290000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:63290400-63291800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:63290400-63292600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr8:63290800-63291600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:63291200-63291400	ZNF genes & repeats	Fetal Brain Female	brain
38	chr8:63291400-63291600	ZNF genes & repeats	Gastric	stomach
39	chr8:63292600-63307000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:63295400-63296400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:63299600-63300000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:63307000-63308000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr8:63307200-63308400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:63307400-63308000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr8:63307400-63308000	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr8:63308000-63308600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:63308000-63312200	Weak transcription	Brain Germinal Matrix	brain
48	chr8:63308000-63314000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:63311800-63313200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:63312200-63312600	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links