Variant report

Variant	esv3346493
Chromosome Location	chr10:53862415-53869874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:53864580..53866365-chr10:53866545..53868550,2	K562	blood:
2	chr10:53864883..53865551-chr10:53975440..53976171,2	MCF-7	breast:
3	chr10:53864580..53866365-chr10:53866545..53868550,2	K562	blood:

Extended variants
information (count: 291 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191588096	chr10:53862424-53862425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548253304	chr10:53862433-53862434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146739501	chr10:53862512-53862513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182562094	chr10:53862527-53862528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185282462	chr10:53862531-53862532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537367507	chr10:53862535-53862536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140309531	chr10:53862577-53862578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562071551	chr10:53862633-53862634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377104335	chr10:53862650-53862651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189811138	chr10:53862785-53862786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117390747	chr10:53862791-53862792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150364626	chr10:53862813-53862814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539569151	chr10:53862839-53862840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530922300	chr10:53862892-53862893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182102334	chr10:53862920-53862921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544757629	chr10:53862929-53862930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12414927	chr10:53862934-53862935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34528822	chr10:53862952-53862953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530980163	chr10:53862960-53862961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12412155	chr10:53862970-53862971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138100196	chr10:53863027-53863028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543526657	chr10:53863048-53863049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533723908	chr10:53863059-53863060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370366772	chr10:53863129-53863130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149448941	chr10:53863131-53863132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78213193	chr10:53863199-53863200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75599058	chr10:53863227-53863228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532660505	chr10:53863272-53863273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10824038	chr10:53863292-53863293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571429238	chr10:53863307-53863308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553727755	chr10:53863366-53863367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145804528	chr10:53863496-53863497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72803136	chr10:53863534-53863535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11000791	chr10:53863539-53863540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536127718	chr10:53863552-53863553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573546278	chr10:53863553-53863554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575293883	chr10:53863656-53863657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572480671	chr10:53863713-53863714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142403838	chr10:53863746-53863747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189202999	chr10:53863760-53863761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71485790	chr10:53863762-53863763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374500505	chr10:53863768-53863769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545999470	chr10:53863769-53863770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74673449	chr10:53863770-53863771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531427052	chr10:53863771-53863772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529573601	chr10:53863772-53863773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34772697	chr10:53863778-53863779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59186791	chr10:53863784-53863785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533592121	chr10:53863785-53863786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557921026	chr10:53863802-53863803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53854800-53866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:53856400-53866200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:53860000-53865600	Weak transcription	Aorta	Aorta
4	chr10:53861600-53862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:53862200-53866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:53865800-53867000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:53865800-53869600	Weak transcription	Aorta	Aorta
8	chr10:53866000-53870200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:53866200-53867000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:53866600-53867000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr10:53866600-53867000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:53866600-53867000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:53866600-53867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:53866600-53867400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:53867000-53869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:53867000-53872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:53867200-53869600	Weak transcription	Psoas Muscle	Psoas
18	chr10:53869600-53869800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr10:53869600-53870000	Enhancers	Psoas Muscle	Psoas
20	chr10:53869800-53870200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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