Variant report

Variant	nsv890959
Chromosome Location	chr8:63449156-63515522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:124913520..124914257-chr8:63504216..63505103,2	HCT-116	colon:
2	chr8:63444142..63446128-chr8:63448554..63450690,2	K562	blood:
3	chr8:63460557..63464454-chr8:63467643..63469936,3	MCF-7	breast:
4	chr8:63460557..63464454-chr8:63467643..63469936,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154473	chromatin interactions

Extended variants
information (count: 1236 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12544945	chr8:63449156-63449157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567653898	chr8:63449173-63449174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538199543	chr8:63449240-63449241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112470148	chr8:63449268-63449269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557293894	chr8:63449297-63449298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575579457	chr8:63449305-63449306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7825567	chr8:63449366-63449367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557651745	chr8:63449379-63449380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191608059	chr8:63449432-63449433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548274377	chr8:63449433-63449434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569472745	chr8:63449449-63449450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372642838	chr8:63449713-63449714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539949876	chr8:63449729-63449730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376202870	chr8:63449741-63449742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183611099	chr8:63449753-63449754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528868502	chr8:63449765-63449766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543759098	chr8:63449815-63449816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561788825	chr8:63449819-63449820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149091328	chr8:63449866-63449867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533414478	chr8:63449877-63449878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143054497	chr8:63449885-63449886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566932328	chr8:63449899-63449900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28647803	chr8:63449904-63449905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574338019	chr8:63449943-63449944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549216735	chr8:63449975-63449976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567713231	chr8:63449980-63449981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538261011	chr8:63449987-63449988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187933339	chr8:63450022-63450023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73269435	chr8:63450027-63450028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569208866	chr8:63450034-63450035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540103993	chr8:63450059-63450060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372778862	chr8:63450066-63450067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142773307	chr8:63450124-63450125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543053888	chr8:63450132-63450133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540383473	chr8:63450139-63450140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547599229	chr8:63450174-63450175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147351039	chr8:63450199-63450200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137934773	chr8:63450201-63450202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558424624	chr8:63450212-63450213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543824015	chr8:63450218-63450219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141998653	chr8:63450248-63450249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533710429	chr8:63450283-63450284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75918270	chr8:63450298-63450299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12680191	chr8:63450334-63450335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190797431	chr8:63450339-63450340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527881024	chr8:63450344-63450345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150696298	chr8:63450352-63450353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561380903	chr8:63450389-63450390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531825141	chr8:63450428-63450429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369383157	chr8:63450430-63450431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63444600-63449400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63444800-63458200	Weak transcription	Fetal Brain Female	brain
3	chr8:63446200-63450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:63447600-63449200	Weak transcription	Brain Germinal Matrix	brain
5	chr8:63448200-63450600	Enhancers	Fetal Intestine Large	intestine
6	chr8:63448400-63449200	Weak transcription	Fetal Stomach	stomach
7	chr8:63448800-63449800	Enhancers	Fetal Lung	lung
8	chr8:63449000-63450200	Enhancers	Fetal Intestine Small	intestine
9	chr8:63449000-63451400	Enhancers	Colon Smooth Muscle	Colon
10	chr8:63449200-63449800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr8:63449200-63450800	Enhancers	Fetal Stomach	stomach
12	chr8:63449200-63451000	Enhancers	Brain Germinal Matrix	brain
13	chr8:63449400-63451000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:63449400-63451800	Enhancers	Rectal Smooth Muscle	rectum
15	chr8:63449800-63451400	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:63450200-63450600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:63450400-63451000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:63450600-63450800	Enhancers	Liver	Liver
19	chr8:63451400-63451600	Enhancers	Liver	Liver
20	chr8:63458200-63459800	Enhancers	Fetal Brain Female	brain
21	chr8:63458600-63460200	Enhancers	Fetal Brain Male	brain
22	chr8:63458800-63459200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:63458800-63459400	Enhancers	Brain Angular Gyrus	brain
24	chr8:63458800-63459600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:63458800-63460400	Enhancers	Brain Germinal Matrix	brain
26	chr8:63459200-63462800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:63459600-63459800	Enhancers	Colon Smooth Muscle	Colon
28	chr8:63459800-63462600	Weak transcription	Fetal Brain Female	brain
29	chr8:63459800-63465400	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:63460200-63461000	Weak transcription	Fetal Brain Male	brain
31	chr8:63461000-63461800	Enhancers	Fetal Brain Male	brain
32	chr8:63461800-63465200	Weak transcription	Fetal Brain Male	brain
33	chr8:63462600-63462800	Enhancers	Fetal Brain Female	brain
34	chr8:63462800-63463800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:63463400-63463800	Enhancers	Rectal Smooth Muscle	rectum
36	chr8:63463800-63465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:63463800-63465200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:63465000-63465400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:63465000-63465800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:63465200-63465600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:63465200-63465600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:63465200-63465600	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:63465200-63465800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:63465200-63465800	Enhancers	Fetal Brain Male	brain
45	chr8:63465400-63465600	Enhancers	Colon Smooth Muscle	Colon
46	chr8:63465400-63465600	Enhancers	Fetal Brain Female	brain
47	chr8:63465600-63466000	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:63466000-63466400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:63474400-63476400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr8:63474600-63476000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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