Variant report

Variant	nsv512160
Chromosome Location	chr10:44203320-44205904
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	chr10:44202572..44204075-chr10:44209232..44212140,2	MCF-7	breast:
2	chr10:44204490..44205996-chr10:44207800..44210534,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546411911	chr10:44203326-44203327	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550186220	chr10:44203332-44203333	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570982000	chr10:44203376-44203377	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531983612	chr10:44203377-44203378	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550119094	chr10:44203392-44203393	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545557523	chr10:44203420-44203421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180892118	chr10:44203428-44203429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78899093	chr10:44203434-44203435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554824442	chr10:44203444-44203445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186514119	chr10:44203471-44203472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533950687	chr10:44203604-44203605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191362330	chr10:44203668-44203669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112054462	chr10:44203708-44203709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562135719	chr10:44203716-44203717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544628532	chr10:44203736-44203737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145637700	chr10:44203779-44203780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574773874	chr10:44203787-44203788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559432703	chr10:44203792-44203793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547921498	chr10:44203795-44203796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560824411	chr10:44203823-44203824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572574694	chr10:44203856-44203857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11814874	chr10:44203859-44203860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564647568	chr10:44203873-44203874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532115294	chr10:44203874-44203875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550256150	chr10:44203901-44203902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562170469	chr10:44203910-44203911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541892912	chr10:44203915-44203916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548199927	chr10:44203929-44203930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566733783	chr10:44203978-44203979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533752890	chr10:44203996-44203997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181690446	chr10:44204014-44204015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570652294	chr10:44204064-44204065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538389736	chr10:44204116-44204117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556673354	chr10:44204123-44204124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11238641	chr10:44204139-44204140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142860382	chr10:44204140-44204141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530833850	chr10:44204150-44204151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368111210	chr10:44204163-44204164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550713047	chr10:44204215-44204216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12356759	chr10:44204232-44204233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564145144	chr10:44204264-44204265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73266582	chr10:44204301-44204302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77111151	chr10:44204310-44204311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552383825	chr10:44204315-44204316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185981958	chr10:44204395-44204396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386743207	chr10:44204440-44204441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78584704	chr10:44204441-44204442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562566206	chr10:44204452-44204453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386743208	chr10:44204464-44204465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528424618	chr10:44204473-44204474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44196000-44203800	Weak transcription	Right Atrium	heart
2	chr10:44202600-44204200	Enhancers	Adipose Nuclei	Adipose
3	chr10:44202600-44204200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:44202800-44204400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:44203000-44203400	Enhancers	Right Ventricle	heart
6	chr10:44203000-44203800	Enhancers	Fetal Heart	heart
7	chr10:44203000-44204000	Enhancers	HUVEC	blood vessel
8	chr10:44203000-44204200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:44203000-44204200	Enhancers	Left Ventricle	heart
10	chr10:44203000-44204200	Enhancers	Lung	lung
11	chr10:44203000-44204200	Enhancers	Pancreas	Pancrea
12	chr10:44203000-44204200	Enhancers	Spleen	Spleen
13	chr10:44203000-44204600	Enhancers	Osteobl	bone
14	chr10:44203200-44203400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:44203200-44203400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr10:44203200-44204000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:44203200-44204000	Enhancers	Aorta	Aorta
18	chr10:44203200-44204000	Enhancers	NH-A	brain
19	chr10:44203200-44204200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:44203200-44204200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:44203200-44204200	Enhancers	Ovary	ovary
22	chr10:44203200-44204600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:44203200-44204600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:44203400-44204000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:44203400-44204200	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:44203400-44207200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:44203600-44204000	Enhancers	HSMMtube	muscle
28	chr10:44203800-44204000	Enhancers	Right Atrium	heart
29	chr10:44203800-44204200	Enhancers	Fetal Intestine Small	intestine
30	chr10:44203800-44204200	Enhancers	Fetal Kidney	kidney
31	chr10:44203800-44204200	Enhancers	Fetal Lung	lung
32	chr10:44203800-44204200	Enhancers	NHDF-Ad	bronchial
33	chr10:44204200-44205800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:44204200-44207000	Weak transcription	Spleen	Spleen

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