Variant report

Variant	esv17493
Chromosome Location	chr10:27613182-27619624
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	chr10:27609103..27610966-chr10:27614340..27616128,2	K562	blood:

Extended variants
information (count: 304 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190087736	chr10:27613186-27613187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551196276	chr10:27613266-27613267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74450713	chr10:27613291-27613292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530550442	chr10:27613297-27613298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182335698	chr10:27613310-27613311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567237037	chr10:27613322-27613323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186492298	chr10:27613353-27613354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192594855	chr10:27613384-27613385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs237606	chr10:27613459-27613460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs552067404	chr10:27613460-27613461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535213983	chr10:27613485-27613486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558014049	chr10:27613496-27613497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78709899	chr10:27613576-27613577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185421311	chr10:27613585-27613586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188996220	chr10:27613622-27613623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573669725	chr10:27613653-27613654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550335843	chr10:27613657-27613658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542560686	chr10:27613741-27613742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76930229	chr10:27613758-27613759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572993712	chr10:27613772-27613773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192960529	chr10:27613804-27613805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77763347	chr10:27613866-27613867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530639114	chr10:27613907-27613908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141533813	chr10:27613921-27613922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369575043	chr10:27613929-27613930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529653675	chr10:27613937-27613938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549455026	chr10:27613945-27613946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74350662	chr10:27613964-27613965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534933096	chr10:27613968-27613969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368146285	chr10:27614010-27614011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368343936	chr10:27614011-27614012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185280230	chr10:27614029-27614030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375972141	chr10:27614049-27614050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571471515	chr10:27614058-27614059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147125936	chr10:27614095-27614096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556988931	chr10:27614116-27614117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188842693	chr10:27614134-27614135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181125350	chr10:27614137-27614138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553037950	chr10:27614143-27614144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56394435	chr10:27614162-27614163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183792781	chr10:27614164-27614165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532794033	chr10:27614183-27614184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544942058	chr10:27614195-27614196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558809925	chr10:27614278-27614279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374301272	chr10:27614308-27614309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59888463	chr10:27614329-27614330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140362102	chr10:27614337-27614338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150782530	chr10:27614338-27614339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55824639	chr10:27614359-27614360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs237607	chr10:27614365-27614366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	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
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27613000-27613400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:27613400-27617400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:27616200-27616400	Enhancers	Fetal Thymus	thymus
4	chr10:27617800-27618400	Enhancers	Fetal Intestine Large	intestine
5	chr10:27618400-27619600	Weak transcription	Fetal Intestine Large	intestine
6	chr10:27619400-27619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:27619400-27620200	Enhancers	Fetal Intestine Small	intestine
8	chr10:27619600-27619800	Enhancers	Fetal Intestine Large	intestine

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