Variant report

Variant	esv2421775
Chromosome Location	chr8:122320560-122341946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59652019..59652612-chr8:122328178..122329036,2	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:

Extended variants
information (count: 645 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10089700	chr8:122322223-122322224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562356014	chr8:122322227-122322228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147948191	chr8:122322247-122322248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551014461	chr8:122322318-122322319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141758215	chr8:122322360-122322361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182029891	chr8:122322365-122322366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185466792	chr8:122322386-122322387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189840102	chr8:122322389-122322390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534500326	chr8:122322407-122322408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554377986	chr8:122322445-122322446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13257834	chr8:122322450-122322451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143218118	chr8:122322455-122322456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537322634	chr8:122322473-122322474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572010924	chr8:122322488-122322489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13258169	chr8:122322513-122322514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76557753	chr8:122322565-122322566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368744048	chr8:122322566-122322567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199802894	chr8:122322586-122322587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553495535	chr8:122322589-122322590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57396130	chr8:122322590-122322591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573411585	chr8:122322607-122322608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531715046	chr8:122322622-122322623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550032224	chr8:122322624-122322625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200673336	chr8:122322642-122322643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372255272	chr8:122322665-122322666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375059051	chr8:122322669-122322670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10156248	chr8:122322709-122322710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530944633	chr8:122322712-122322713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13261121	chr8:122322768-122322769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531030390	chr8:122322806-122322807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58098285	chr8:122322810-122322811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201805993	chr8:122322813-122322814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532477527	chr8:122322816-122322817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58867086	chr8:122322817-122322818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532128167	chr8:122322818-122322819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397968010	chr8:122322826-122322827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566276643	chr8:122322831-122322832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147075606	chr8:122322885-122322886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191649525	chr8:122322922-122322923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79599291	chr8:122322935-122322936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540178517	chr8:122322951-122322952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149493869	chr8:122322958-122322959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183566678	chr8:122322977-122322978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188299504	chr8:122322979-122322980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193289406	chr8:122323014-122323015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528742645	chr8:122323041-122323042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548759977	chr8:122323117-122323118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184676702	chr8:122323125-122323126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369365832	chr8:122323129-122323130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553434504	chr8:122323143-122323144	Weak transcription	n/a	n/a	Overlapped CNVs	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122322200-122330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:122326200-122326800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:122326400-122326800	Active TSS	Gastric	stomach
4	chr8:122326800-122327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122326800-122327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:122326800-122327200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:122327000-122328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:122327000-122328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:122327200-122330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:122328000-122328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:122328000-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:122328200-122328600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:122328600-122329200	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:122328800-122329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:122329200-122329600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:122329600-122330800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:122329800-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:122329800-122331000	Enhancers	Fetal Kidney	kidney
19	chr8:122329800-122332000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:122329800-122332200	Enhancers	HUVEC	blood vessel
21	chr8:122330200-122330800	Enhancers	HepG2	liver
22	chr8:122330200-122331000	Enhancers	NHEK	skin
23	chr8:122330200-122331000	Enhancers	Osteobl	bone
24	chr8:122330200-122331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:122330400-122330800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:122330400-122330800	Enhancers	Hela-S3	cervix
29	chr8:122330400-122330800	Enhancers	NHLF	lung
30	chr8:122330400-122331000	Enhancers	Duodenum Mucosa	Duodenum
31	chr8:122330400-122331000	Enhancers	NH-A	brain
32	chr8:122330400-122331400	Enhancers	HMEC	breast
33	chr8:122330400-122331400	Enhancers	HSMM	muscle
34	chr8:122330800-122333600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:122330800-122333800	Weak transcription	NHLF	lung
36	chr8:122330800-122334400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:122330800-122335000	Weak transcription	Hela-S3	cervix
38	chr8:122330800-122335400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:122331000-122334200	Weak transcription	Osteobl	bone
40	chr8:122331000-122334600	Weak transcription	NH-A	brain
41	chr8:122331000-122334600	Weak transcription	NHEK	skin
42	chr8:122331400-122334600	Weak transcription	HMEC	breast
43	chr8:122331400-122334800	Weak transcription	HSMM	muscle
44	chr8:122331400-122335400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:122332000-122332200	Enhancers	A549	lung
46	chr8:122332000-122332400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr8:122332000-122334000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:122332200-122333600	Weak transcription	A549	lung
49	chr8:122332200-122334000	Weak transcription	HUVEC	blood vessel
50	chr8:122333600-122334000	Enhancers	A549	lung

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