Variant report

Variant	esv3326979
Chromosome Location	chr10:25535995-25555648
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	chr10:25546638..25548585-chr10:25550182..25553102,2	K562	blood:
2	chr10:25546638..25548585-chr10:25550182..25553102,2	K562	blood:

Extended variants
information (count: 438 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370957317	chr10:25542014-25542015	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2491196	chr10:25542017-25542018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541646133	chr10:25542018-25542019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs61855493	chr10:25542037-25542038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532909211	chr10:25542097-25542098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549359346	chr10:25542098-25542099	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373599483	chr10:25542112-25542113	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569322090	chr10:25542121-25542122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529108206	chr10:25542166-25542167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549031184	chr10:25542167-25542168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559312294	chr10:25542168-25542169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139336466	chr10:25542197-25542198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557977106	chr10:25542201-25542202	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185708919	chr10:25542204-25542205	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12762022	chr10:25542205-25542206	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572813660	chr10:25542206-25542207	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113599813	chr10:25542209-25542210	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371582841	chr10:25542210-25542211	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539949096	chr10:25542211-25542212	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556550826	chr10:25542225-25542226	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576526472	chr10:25542226-25542227	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536121049	chr10:25542232-25542233	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147370757	chr10:25542233-25542234	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10828767	chr10:25542238-25542239	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542368341	chr10:25542243-25542244	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564742778	chr10:25542249-25542250	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375235717	chr10:25542261-25542262	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577281223	chr10:25542269-25542270	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373982435	chr10:25542270-25542271	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185397499	chr10:25542271-25542272	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562918983	chr10:25542272-25542273	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139573660	chr10:25542291-25542292	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113904293	chr10:25542295-25542296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147569621	chr10:25542298-25542299	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148689786	chr10:25542378-25542379	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188421125	chr10:25542480-25542481	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571469334	chr10:25542488-25542489	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539913144	chr10:25542526-25542527	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542792395	chr10:25542556-25542557	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575854196	chr10:25542585-25542586	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550311920	chr10:25542594-25542595	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530044985	chr10:25542614-25542615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544831451	chr10:25542619-25542620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138434614	chr10:25542620-25542621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181900645	chr10:25542638-25542639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555779720	chr10:25542639-25542640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572641181	chr10:25542678-25542679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560923988	chr10:25542715-25542716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564821264	chr10:25542735-25542736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187670381	chr10:25542740-25542741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25542000-25542400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:25542200-25542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:25542200-25542400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:25542200-25542600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:25542400-25545200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:25542800-25543800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr10:25543800-25544200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:25545800-25546400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:25547800-25548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:25548000-25548200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:25548000-25548600	Enhancers	HepG2	liver
12	chr10:25548200-25549400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:25549400-25550000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:25549400-25551200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:25550200-25551800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr10:25551200-25553400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:25553400-25554400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:25554400-25563400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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