Variant report

Variant	nsv1017726
Chromosome Location	chr8:122307499-122339722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122314614..122316625-chr8:122317794..122319472,2	MCF-7	breast:
2	chr8:122336290..122338351-chr8:122338998..122341730,2	MCF-7	breast:
3	chr8:122336290..122338351-chr8:122338998..122341730,2	MCF-7	breast:
4	chr17:59652019..59652612-chr8:122328178..122329036,2	MCF-7	breast:
5	chr8:122314614..122316625-chr8:122317794..122319472,2	MCF-7	breast:

Extended variants
information (count: 895 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:895 , 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	rs78867661	chr8:122310419-122310420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35054629	chr8:122310506-122310507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144934114	chr8:122310525-122310526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181458643	chr8:122310550-122310551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375389302	chr8:122310645-122310646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184972526	chr8:122310669-122310670	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189353638	chr8:122310671-122310672	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567161708	chr8:122310672-122310673	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369203309	chr8:122310682-122310683	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369541520	chr8:122310737-122310738	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181847569	chr8:122310766-122310767	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73707599	chr8:122310769-122310770	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536780525	chr8:122310801-122310802	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556661965	chr8:122310806-122310807	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7834486	chr8:122310837-122310838	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35219175	chr8:122310844-122310845	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555542246	chr8:122310856-122310857	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552945989	chr8:122310875-122310876	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142287718	chr8:122310891-122310892	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186085669	chr8:122310901-122310902	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7835074	chr8:122310964-122310965	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562610648	chr8:122310965-122310966	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553289667	chr8:122310991-122310992	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6469997	chr8:122311013-122311014	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544687876	chr8:122311033-122311034	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545439955	chr8:122311088-122311089	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190998484	chr8:122311122-122311123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557357223	chr8:122311141-122311142	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551443015	chr8:122311143-122311144	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571544585	chr8:122311242-122311243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146389058	chr8:122311247-122311248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374119382	chr8:122311312-122311313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77057788	chr8:122311314-122311315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576281048	chr8:122311318-122311319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71571696	chr8:122311319-122311320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11429872	chr8:122311329-122311330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370077173	chr8:122311330-122311331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547857550	chr8:122311335-122311336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375534414	chr8:122311336-122311337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575701407	chr8:122311360-122311361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7835432	chr8:122311362-122311363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536666730	chr8:122311366-122311367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547692255	chr8:122311387-122311388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545254351	chr8:122311472-122311473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7835848	chr8:122311490-122311491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570216841	chr8:122311504-122311505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540211462	chr8:122311523-122311524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114520395	chr8:122311548-122311549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370955860	chr8:122311578-122311579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7835619	chr8:122311579-122311580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:137)

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
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122310400-122310600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:122310600-122311000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:122310600-122311000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:122310600-122311200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:122311200-122311600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:122311800-122312400	Enhancers	HUVEC	blood vessel
7	chr8:122313200-122313600	Enhancers	Fetal Intestine Large	intestine
8	chr8:122313600-122318000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:122315400-122315800	Enhancers	HepG2	liver
10	chr8:122315600-122316000	Enhancers	Adipose Nuclei	Adipose
11	chr8:122316600-122317000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:122318000-122318600	Enhancers	Fetal Intestine Large	intestine
13	chr8:122318000-122318800	Enhancers	Fetal Lung	lung
14	chr8:122318200-122318400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:122318800-122319600	Weak transcription	Fetal Lung	lung
16	chr8:122319600-122319800	Enhancers	Fetal Lung	lung
17	chr8:122322200-122330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:122326200-122326800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:122326400-122326800	Active TSS	Gastric	stomach
20	chr8:122326800-122327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:122326800-122327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:122326800-122327200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:122327000-122328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:122327000-122328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:122327200-122330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:122328000-122328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:122328000-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:122328200-122328600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:122328600-122329200	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:122328800-122329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:122329200-122329600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:122329600-122330800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:122329800-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:122329800-122331000	Enhancers	Fetal Kidney	kidney
35	chr8:122329800-122332000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:122329800-122332200	Enhancers	HUVEC	blood vessel
37	chr8:122330200-122330800	Enhancers	HepG2	liver
38	chr8:122330200-122331000	Enhancers	NHEK	skin
39	chr8:122330200-122331000	Enhancers	Osteobl	bone
40	chr8:122330200-122331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:122330400-122330800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:122330400-122330800	Enhancers	Hela-S3	cervix
45	chr8:122330400-122330800	Enhancers	NHLF	lung
46	chr8:122330400-122331000	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:122330400-122331000	Enhancers	NH-A	brain
48	chr8:122330400-122331400	Enhancers	HMEC	breast
49	chr8:122330400-122331400	Enhancers	HSMM	muscle
50	chr8:122330800-122333600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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