Variant report

Variant	nsv1018159
Chromosome Location	chr8:108007543-108070058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:38477248..38478946-chr8:108022853..108025135,2	MCF-7	breast:
2	chr8:107858278..107858789-chr8:108024820..108025365,2	MCF-7	breast:
3	chr8:108046046..108048588-chr8:108049288..108050905,2	K562	blood:
4	chr8:108046046..108048588-chr8:108049288..108050905,2	K562	blood:
5	chr8:107996657..107998949-chr8:108007798..108009962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183520	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535093328	chr8:108007558-108007559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149910156	chr8:108007570-108007571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115844842	chr8:108007574-108007575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572033545	chr8:108007581-108007582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144874518	chr8:108007619-108007620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148614027	chr8:108007655-108007656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187205665	chr8:108007717-108007718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114065263	chr8:108007738-108007739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528191705	chr8:108007755-108007756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545749281	chr8:108007769-108007770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546326740	chr8:108007779-108007780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190675360	chr8:108007815-108007816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61039493	chr8:108007831-108007832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549488685	chr8:108007864-108007865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78727186	chr8:108007891-108007892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115361027	chr8:108007941-108007942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537717067	chr8:108007980-108007981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576263827	chr8:108008014-108008015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549333198	chr8:108008019-108008020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567887911	chr8:108008113-108008114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146876605	chr8:108008146-108008147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574838236	chr8:108008165-108008166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140739541	chr8:108008174-108008175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145778497	chr8:108008235-108008236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183016514	chr8:108008271-108008272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146615533	chr8:108008362-108008363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557280562	chr8:108008369-108008370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187346405	chr8:108008382-108008383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542876998	chr8:108008414-108008415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554543278	chr8:108008487-108008488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572744650	chr8:108008510-108008511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190166107	chr8:108008523-108008524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564643156	chr8:108008596-108008597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532040748	chr8:108008680-108008681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182996433	chr8:108008733-108008734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562477310	chr8:108008736-108008737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529636214	chr8:108008769-108008770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549685119	chr8:108008778-108008779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187662436	chr8:108008825-108008826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528741010	chr8:108008832-108008833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3019956	chr8:108008848-108008849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192520747	chr8:108008853-108008854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559990851	chr8:108008871-108008872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571492539	chr8:108008886-108008887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1462014	chr8:108008913-108008914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548127709	chr8:108008980-108008981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557096231	chr8:108009005-108009006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116723966	chr8:108009012-108009013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185580855	chr8:108009017-108009018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554898028	chr8:108009057-108009058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108005400-108011600	Weak transcription	Aorta	Aorta
2	chr8:108007000-108007800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:108007200-108007600	Enhancers	Stomach Smooth Muscle	stomach
4	chr8:108007200-108008000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:108007800-108011000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:108011000-108013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:108011600-108012200	ZNF genes & repeats	Aorta	Aorta
8	chr8:108011600-108013000	Enhancers	Adipose Nuclei	Adipose
9	chr8:108012400-108013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:108012400-108014200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:108012600-108012800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:108012600-108013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:108012800-108019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:108013000-108013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:108013400-108013800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:108024800-108025200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:108032800-108033600	Enhancers	Ovary	ovary
18	chr8:108033000-108033400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:108036400-108036800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:108037400-108038400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:108040800-108042000	ZNF genes & repeats	Aorta	Aorta
22	chr8:108058200-108058600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr8:108058600-108062000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:108060800-108061400	Enhancers	Fetal Intestine Large	intestine
25	chr8:108060800-108061800	Enhancers	Fetal Intestine Small	intestine
26	chr8:108062000-108062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:108069200-108069600	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links