Variant report

Variant	esv2760115
Chromosome Location	chr10:37663400-37685064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37667428..37669916-chr10:37670845..37673786,2	K562	blood:
2	chr10:37667428..37669916-chr10:37670845..37673786,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-3	chr10:37667410-37668609	NONHSAT012774
2	lnc-ANKRD30A-5	chr10:37684461-37685164	NONHSAT012776
3	lnc-ANKRD30A-3	chr10:37668727-37669260	NONHSAT012774
4	lnc-ANKRD30A-3	chr10:37669590-37669641	NONHSAT012774
5	lnc-ANKRD30A-5	chr10:37684566-37684681	XLOC_008455
6	lnc-ANKRD30A-3	chr10:37668110-37668180	XLOC_008454
7	lnc-ANKRD30A-3	chr10:37668779-37669239	XLOC_008454

No data

Variant related genes	Relation type
PTEN	miRNA target sites

Extended variants
information (count: 345 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:345 , 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	rs12783534	chr10:37663400-37663401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187502955	chr10:37663408-37663409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138316655	chr10:37663437-37663438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111533109	chr10:37663438-37663439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565329882	chr10:37663441-37663442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555670965	chr10:37667417-37667418	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs34313110	chr10:37667438-37667439	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs371218988	chr10:37667477-37667478	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs143200162	chr10:37667522-37667523	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs186251920	chr10:37667580-37667581	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs147070938	chr10:37667586-37667587	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557003082	chr10:37667605-37667606	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555433932	chr10:37667700-37667701	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569386432	chr10:37667701-37667702	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs111869131	chr10:37667765-37667766	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558187586	chr10:37667777-37667778	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1938415	chr10:37667779-37667780	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs578169181	chr10:37667785-37667786	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs540239877	chr10:37667786-37667787	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562454495	chr10:37667816-37667817	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs553756239	chr10:37667839-37667840	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs576935628	chr10:37667860-37667861	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs573676443	chr10:37667924-37667925	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190568140	chr10:37667960-37667961	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs149579920	chr10:37667966-37667967	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs546332447	chr10:37668068-37668069	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs528401999	chr10:37668105-37668106	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs572823919	chr10:37668205-37668206	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs117118554	chr10:37668206-37668207	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs545154396	chr10:37668238-37668239	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs71489137	chr10:37668239-37668240	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs374702460	chr10:37668245-37668246	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs182774052	chr10:37668309-37668310	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs79519848	chr10:37668313-37668314	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs566569199	chr10:37668325-37668326	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529236075	chr10:37668330-37668331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs372215489	chr10:37668419-37668420	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs569304459	chr10:37668423-37668424	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs538068675	chr10:37668516-37668517	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs376564808	chr10:37668550-37668551	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs185765797	chr10:37668569-37668570	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs571850283	chr10:37668574-37668575	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35706720	chr10:37668633-37668634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554495621	chr10:37668634-37668635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370141581	chr10:37668651-37668652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573711642	chr10:37668661-37668662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536227884	chr10:37668670-37668671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556000892	chr10:37668674-37668675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115348871	chr10:37668684-37668685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544879701	chr10:37668704-37668705	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	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
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37663200-37663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:37667400-37669600	Enhancers	A549	lung
3	chr10:37667800-37669800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:37668200-37669600	Enhancers	HMEC	breast
5	chr10:37668200-37669600	Enhancers	NHEK	skin
6	chr10:37668800-37669200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:37668800-37669400	Enhancers	HSMM	muscle
8	chr10:37668800-37669600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:37669000-37669400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:37669200-37669400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr10:37669400-37669600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr10:37669800-37673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:37674400-37675000	Active TSS	Fetal Heart	heart
14	chr10:37679800-37681400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:37680200-37681800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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