Variant report

Variant	esv3321643
Chromosome Location	chr8:129837395-129839943
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	chr8:129828405..129831324-chr8:129837092..129838660,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369257702	chr8:129837455-129837456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12544443	chr8:129837463-129837464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185813565	chr8:129837653-129837654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375958050	chr8:129837696-129837697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62528565	chr8:129837802-129837803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190289533	chr8:129837884-129837885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200104327	chr8:129837962-129837963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201215361	chr8:129837987-129837988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181069120	chr8:129837988-129837989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369527446	chr8:129838374-129838375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373092004	chr8:129838430-129838431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377547465	chr8:129838455-129838456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202000185	chr8:129838488-129838489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371020853	chr8:129838541-129838542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566645503	chr8:129838597-129838598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200709559	chr8:129838598-129838599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542478010	chr8:129838638-129838639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532399666	chr8:129838653-129838654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552209776	chr8:129838671-129838672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373145001	chr8:129838672-129838673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564357684	chr8:129838683-129838684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10109344	chr8:129838724-129838725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377337099	chr8:129838741-129838742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370664698	chr8:129838758-129838759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527835693	chr8:129838852-129838853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555620968	chr8:129838872-129838873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12334773	chr8:129838928-129838929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183647827	chr8:129838933-129838934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541224050	chr8:129838973-129838974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372510855	chr8:129839005-129839006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374197515	chr8:129839008-129839009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553831521	chr8:129839016-129839017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570752756	chr8:129839017-129839018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193204772	chr8:129839025-129839026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372172874	chr8:129839033-129839034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185728854	chr8:129839035-129839036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545798259	chr8:129839131-129839132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10112504	chr8:129839132-129839133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10112509	chr8:129839149-129839150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371285085	chr8:129839171-129839172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531310720	chr8:129839190-129839191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543785361	chr8:129839201-129839202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561954419	chr8:129839202-129839203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113404250	chr8:129839247-129839248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111671747	chr8:129839278-129839279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111835491	chr8:129839288-129839289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547229867	chr8:129839306-129839307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566188949	chr8:129839322-129839323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533236698	chr8:129839342-129839343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12334790	chr8:129839362-129839363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

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
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
Acute myeloid leukemia	20729466	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
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
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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastric cancer	18160780	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129837200-129839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:129837200-129839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:129839400-129841000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:129839400-129843800	Enhancers	Dnd41	blood
5	chr8:129839600-129841000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:129839800-129840800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:129839800-129841200	Enhancers	Primary hematopoietic stem cells	blood

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