Variant report

Variant	nsv971348
Chromosome Location	chr8:121234871-121237165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121233564..121236252-chr8:121236921..121239652,2	MCF-7	breast:
2	chr8:121233564..121236252-chr8:121236921..121239652,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538456094	chr8:121234879-121234880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539317047	chr8:121234881-121234882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140491124	chr8:121234962-121234963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554240420	chr8:121234966-121234967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35806752	chr8:121234998-121234999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535834116	chr8:121235003-121235004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569144168	chr8:121235010-121235011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34862734	chr8:121235011-121235012	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397762677	chr8:121235019-121235020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554238088	chr8:121235024-121235025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188571743	chr8:121235035-121235036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555047126	chr8:121235078-121235079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576416941	chr8:121235119-121235120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75570702	chr8:121235139-121235140	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141843646	chr8:121235142-121235143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200115605	chr8:121235152-121235153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372061248	chr8:121235157-121235158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576757412	chr8:121235163-121235164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540913873	chr8:121235179-121235180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150270868	chr8:121235218-121235219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529690479	chr8:121235231-121235232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541413813	chr8:121235244-121235245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563406692	chr8:121235265-121235266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530494579	chr8:121235278-121235279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113655782	chr8:121235283-121235284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368125220	chr8:121235284-121235285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550425968	chr8:121235303-121235304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117485277	chr8:121235348-121235349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79460847	chr8:121235368-121235369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548104565	chr8:121235438-121235439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566328013	chr8:121235460-121235461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111357481	chr8:121235466-121235467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539880257	chr8:121235530-121235531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548252378	chr8:121235537-121235538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193087573	chr8:121235555-121235556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537131223	chr8:121235567-121235568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114559467	chr8:121235594-121235595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576620561	chr8:121235595-121235596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535654690	chr8:121235610-121235611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534648805	chr8:121235661-121235662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557972171	chr8:121235666-121235667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113810957	chr8:121235723-121235724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185682164	chr8:121235766-121235767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138962158	chr8:121235830-121235831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56771259	chr8:121235841-121235842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147501193	chr8:121235864-121235865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539185939	chr8:121235946-121235947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188957793	chr8:121236005-121236006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545903441	chr8:121236033-121236034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10110806	chr8:121236048-121236049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:142)

Disease	PMID	Source
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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121214200-121253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121215200-121260600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121217200-121261600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:121222200-121255200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121224800-121243800	Weak transcription	Placenta	Placenta
6	chr8:121229600-121249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:121231200-121238800	Weak transcription	Aorta	Aorta
8	chr8:121233000-121235000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:121233000-121235200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121233400-121242200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:121233600-121238600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:121234000-121239400	Weak transcription	Ovary	ovary
13	chr8:121234000-121239600	Weak transcription	Osteobl	bone
14	chr8:121234200-121236800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:121234200-121238800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:121234200-121240200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:121234400-121235600	Strong transcription	Fetal Lung	lung
18	chr8:121234600-121235400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:121234600-121236800	Strong transcription	Fetal Stomach	stomach
20	chr8:121234800-121240200	Weak transcription	NHDF-Ad	bronchial
21	chr8:121234800-121253800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:121235000-121239400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:121235200-121237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:121235400-121236800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:121235600-121239600	Weak transcription	Fetal Lung	lung
26	chr8:121236800-121237400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:121236800-121237400	Enhancers	Colon Smooth Muscle	Colon
28	chr8:121236800-121238800	Weak transcription	Fetal Stomach	stomach

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