Variant report

Variant	esv3314774
Chromosome Location	chr10:45728624-45731754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45495502..45498143-chr10:45727640..45729872,2	K562	blood:
2	chr10:45501582..45503309-chr10:45728475..45730183,2	K562	blood:
3	chr10:45731478..45733105-chr10:45735880..45737982,2	K562	blood:
4	chr10:45730445..45732961-chr10:45732972..45734613,2	K562	blood:

Variant related genes	Relation type
ENSG00000165511	chromatin interactions
ENSG00000165512	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188329254	chr10:45728644-45728645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542261984	chr10:45728692-45728693	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560901444	chr10:45728730-45728731	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572866924	chr10:45728757-45728758	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200659091	chr10:45728814-45728815	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369124951	chr10:45728835-45728836	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540977648	chr10:45728842-45728843	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs151062859	chr10:45728868-45728869	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12266631	chr10:45728875-45728876	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551122020	chr10:45728958-45728959	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562843006	chr10:45728993-45728994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35297695	chr10:45729037-45729038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559323030	chr10:45729038-45729039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530165696	chr10:45729040-45729041	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528041455	chr10:45729069-45729070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548381942	chr10:45729131-45729132	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34721332	chr10:45729175-45729176	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12266830	chr10:45729177-45729178	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533910296	chr10:45729279-45729280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538276176	chr10:45729301-45729302	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571173592	chr10:45729333-45729334	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34942185	chr10:45729350-45729351	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56098569	chr10:45729351-45729352	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370629750	chr10:45729384-45729385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77206899	chr10:45729386-45729387	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs75873808	chr10:45729394-45729395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564415184	chr10:45729395-45729396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs55999048	chr10:45729396-45729397	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs5784677	chr10:45729397-45729398	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146857404	chr10:45729398-45729399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs5784678	chr10:45729399-45729400	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56098506	chr10:45729414-45729415	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550354140	chr10:45729420-45729421	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569852736	chr10:45729432-45729433	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557072447	chr10:45729457-45729458	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575280077	chr10:45729465-45729466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77743546	chr10:45729547-45729548	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs180856730	chr10:45729582-45729583	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs117873873	chr10:45729606-45729607	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572907449	chr10:45729614-45729615	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs185081774	chr10:45729678-45729679	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs189473292	chr10:45729707-45729708	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112396089	chr10:45729719-45729720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182106910	chr10:45729732-45729733	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552359198	chr10:45729743-45729744	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113925774	chr10:45729768-45729769	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544486486	chr10:45729793-45729794	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144379539	chr10:45729822-45729823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs576895676	chr10:45730416-45730417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541600217	chr10:45730418-45730419	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45730400-45732200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:45730600-45731200	Enhancers	HUVEC	blood vessel
3	chr10:45730800-45731800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:45730800-45731800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr10:45730800-45731800	Enhancers	Stomach Mucosa	stomach
6	chr10:45730800-45731800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr10:45731000-45731200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:45731000-45731600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:45731000-45731800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:45731200-45731600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:45731200-45731600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr10:45731200-45731600	Enhancers	Brain Substantia Nigra	brain
13	chr10:45731200-45731800	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:45731200-45732000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:45731200-45732000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:45731200-45732000	Enhancers	HMEC	breast
17	chr10:45731200-45732000	Flanking Active TSS	HUVEC	blood vessel
18	chr10:45731200-45732000	Enhancers	Osteobl	bone
19	chr10:45731400-45731800	Enhancers	Adipose Nuclei	Adipose
20	chr10:45731400-45731800	Enhancers	Brain Hippocampus Middle	brain
21	chr10:45731400-45731800	Enhancers	HSMM	muscle
22	chr10:45731600-45732000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:45731600-45732200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:45731600-45734200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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