Variant report

Variant	esv3365558
Chromosome Location	chr10:28332546-28334494
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	chr10:28332388..28334708-chr10:28335974..28338490,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB18-2	chr10:28332853-28332885	ENSG00000233472.1

Extended variants
information (count: 74 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541748041	chr10:28332579-28332580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115610316	chr10:28332615-28332616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544679100	chr10:28332652-28332653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201425958	chr10:28332674-28332675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140369857	chr10:28332751-28332752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61845091	chr10:28332809-28332810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533153371	chr10:28332831-28332832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76457853	chr10:28332839-28332840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12413884	chr10:28332869-28332870	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200859368	chr10:28332900-28332901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201994846	chr10:28332915-28332916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199932652	chr10:28332916-28332917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200683737	chr10:28332917-28332918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372445678	chr10:28332920-28332921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531481330	chr10:28332926-28332927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549604519	chr10:28332939-28332940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201662749	chr10:28332940-28332941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565100092	chr10:28332985-28332986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532162226	chr10:28333022-28333023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78044650	chr10:28333125-28333126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72801850	chr10:28333149-28333150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35567479	chr10:28333159-28333160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75024812	chr10:28333162-28333163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185527117	chr10:28333183-28333184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190040279	chr10:28333220-28333221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182276240	chr10:28333237-28333238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149999213	chr10:28333274-28333275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200117833	chr10:28333280-28333281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145443262	chr10:28333297-28333298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201280860	chr10:28333302-28333303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201689198	chr10:28333304-28333305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143932447	chr10:28333309-28333310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577389181	chr10:28333321-28333322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373542245	chr10:28333324-28333325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61845092	chr10:28333333-28333334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553589876	chr10:28333345-28333346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151078464	chr10:28333364-28333365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575239700	chr10:28333386-28333387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558588616	chr10:28333408-28333409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200167476	chr10:28333434-28333435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147611548	chr10:28333445-28333446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551272449	chr10:28333605-28333606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116711304	chr10:28333639-28333640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570929761	chr10:28333671-28333672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543508463	chr10:28333687-28333688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73606035	chr10:28333695-28333696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376696403	chr10:28333716-28333717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532216995	chr10:28333756-28333757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569448955	chr10:28333757-28333758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142478699	chr10:28333778-28333779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28330000-28345000	Weak transcription	Pancreas	Pancrea
2	chr10:28331200-28345000	Weak transcription	Aorta	Aorta
3	chr10:28331400-28335400	Weak transcription	HSMMtube	muscle
4	chr10:28331800-28332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:28333800-28334000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:28333800-28334200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr10:28334000-28334800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:28334000-28335400	Weak transcription	Fetal Stomach	stomach
9	chr10:28334200-28341200	Weak transcription	Monocytes-CD14+_RO01746	blood

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