Variant report

Variant	nsv890956
Chromosome Location	chr8:63251640-63346420
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
2	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:
3	chr8:63319277..63321241-chr8:63321848..63324051,2	K562	blood:
4	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
5	chr8:63280878..63284523-chr8:63286682..63289444,3	MCF-7	breast:
6	chr8:62722647..62723219-chr8:63317559..63318273,2	MCF-7	breast:
7	chr8:63319277..63321241-chr8:63321848..63324051,2	K562	blood:
8	chr8:63265104..63267008-chr8:63268436..63270305,2	K562	blood:
9	chr8:63318987..63320777-chr8:63321010..63323348,2	K562	blood:
10	chr8:63052210..63052840-chr8:63317439..63317973,2	MCF-7	breast:
11	chr8:63318987..63320777-chr8:63321010..63323348,2	K562	blood:
12	chr8:63043534..63044140-chr8:63317610..63318142,2	MCF-7	breast:
13	chr11:113779878..113782406-chr8:63268704..63270468,2	MCF-7	breast:
14	chr8:63295025..63297030-chr8:63298219..63300648,2	K562	blood:
15	chr8:63277582..63279518-chr8:63281007..63282866,2	K562	blood:
16	chr8:63265104..63267008-chr8:63268436..63270305,2	K562	blood:

No data

Extended variants
information (count: 2790 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2790 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7823670	chr8:63251640-63251641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535442997	chr8:63251643-63251644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150688472	chr8:63251646-63251647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188051767	chr8:63251666-63251667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569939786	chr8:63251667-63251668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537262634	chr8:63251698-63251699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562043423	chr8:63251708-63251709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542784537	chr8:63251721-63251722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577106188	chr8:63251759-63251760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542541004	chr8:63251796-63251797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560833401	chr8:63251846-63251847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552751606	chr8:63251853-63251854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140188494	chr8:63251854-63251855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3058298	chr8:63251861-63251862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397946026	chr8:63251869-63251870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541432119	chr8:63251911-63251912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563652555	chr8:63251928-63251929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146847999	chr8:63251940-63251941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559634523	chr8:63251959-63251960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192838745	chr8:63251971-63251972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573234956	chr8:63252023-63252024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564386698	chr8:63252062-63252063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117095025	chr8:63252065-63252066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370983198	chr8:63252102-63252103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547082539	chr8:63252116-63252117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185194890	chr8:63252128-63252129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188925454	chr8:63252132-63252133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561995565	chr8:63252137-63252138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16928706	chr8:63252148-63252149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550962055	chr8:63252162-63252163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373325845	chr8:63252164-63252165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192666143	chr8:63252175-63252176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140569293	chr8:63252220-63252221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565182280	chr8:63252263-63252264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73684904	chr8:63252280-63252281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10107996	chr8:63252281-63252282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10108001	chr8:63252296-63252297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534469771	chr8:63252302-63252303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368038744	chr8:63252308-63252309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73684906	chr8:63252337-63252338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535517868	chr8:63252347-63252348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556566751	chr8:63252377-63252378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561387447	chr8:63252378-63252379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150009574	chr8:63252379-63252380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16928714	chr8:63252380-63252381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528625385	chr8:63252393-63252394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145273360	chr8:63252442-63252443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7461762	chr8:63252443-63252444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573389335	chr8:63252515-63252516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549246024	chr8:63252522-63252523	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63245000-63252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63252800-63253400	Enhancers	Fetal Intestine Small	intestine
3	chr8:63252800-63253400	Enhancers	A549	lung
4	chr8:63252800-63253600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:63252800-63253800	Enhancers	Fetal Intestine Large	intestine
6	chr8:63252800-63255800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:63253000-63253400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:63253200-63253400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:63253200-63255600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:63253400-63253800	Weak transcription	A549	lung
11	chr8:63253400-63254400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:63253600-63254000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:63253800-63254400	Enhancers	A549	lung
14	chr8:63253800-63254600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:63254000-63254600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:63254000-63255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:63254000-63256200	Enhancers	Brain Germinal Matrix	brain
18	chr8:63254400-63254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:63254600-63255200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:63254600-63255200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:63255200-63255400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:63255600-63256600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:63255800-63256200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:63256200-63256800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:63256600-63256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:63267200-63267800	Enhancers	Fetal Intestine Large	intestine
27	chr8:63272200-63275200	Enhancers	HMEC	breast
28	chr8:63272400-63276000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:63272800-63274600	Enhancers	A549	lung
30	chr8:63273800-63275000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:63274600-63275800	Weak transcription	A549	lung
32	chr8:63275600-63276000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:63275800-63276000	Enhancers	A549	lung
34	chr8:63275800-63276200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:63275800-63276200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:63275800-63276200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:63275800-63276200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:63276000-63276200	Weak transcription	A549	lung
39	chr8:63276000-63276800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:63276000-63281800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:63276200-63281600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:63277000-63277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:63281000-63281200	Enhancers	Fetal Intestine Large	intestine
44	chr8:63281000-63281200	Enhancers	Fetal Intestine Small	intestine
45	chr8:63281200-63282000	Weak transcription	Fetal Intestine Large	intestine
46	chr8:63281400-63282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:63281400-63282000	Enhancers	A549	lung
48	chr8:63281400-63282200	Weak transcription	Fetal Intestine Small	intestine
49	chr8:63281400-63283600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:63281600-63283800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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