Variant report

Variant	nsv520422
Chromosome Location	chr10:55152910-55184722
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	chr10:55171490..55173538-chr10:55175367..55178317,2	K562	blood:
2	chr10:55171490..55173538-chr10:55175367..55178317,2	K562	blood:

Extended variants
information (count: 898 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:898 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7908268	chr10:55152910-55152911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371346035	chr10:55152964-55152965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386743829	chr10:55152966-55152967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539697535	chr10:55152967-55152968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556446435	chr10:55152986-55152987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180987305	chr10:55153068-55153069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369021815	chr10:55153112-55153113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541443464	chr10:55153134-55153135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186066522	chr10:55153136-55153137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537126909	chr10:55153146-55153147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370569663	chr10:55153164-55153165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572099950	chr10:55153209-55153210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138586747	chr10:55153231-55153232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564261192	chr10:55153264-55153265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74134572	chr10:55153267-55153268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543707948	chr10:55153274-55153275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563597502	chr10:55153299-55153300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529233534	chr10:55153305-55153306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548547085	chr10:55153306-55153307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552798701	chr10:55153315-55153316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561979024	chr10:55153341-55153342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566202416	chr10:55153342-55153343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142923132	chr10:55153366-55153367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570668536	chr10:55153397-55153398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115482900	chr10:55153427-55153428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573885901	chr10:55153442-55153443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370873239	chr10:55153444-55153445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7475079	chr10:55153456-55153457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550031301	chr10:55153509-55153510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190178559	chr10:55153603-55153604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147006799	chr10:55153605-55153606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137927559	chr10:55153637-55153638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555340599	chr10:55153639-55153640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375036516	chr10:55153692-55153693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571952531	chr10:55153717-55153718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143392373	chr10:55153736-55153737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557584231	chr10:55153780-55153781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535096724	chr10:55153782-55153783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147167842	chr10:55153811-55153812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563509922	chr10:55153863-55153864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370870770	chr10:55153977-55153978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74134573	chr10:55154001-55154002	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562068557	chr10:55154034-55154035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148648320	chr10:55154132-55154133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547833647	chr10:55154134-55154135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564258653	chr10:55154147-55154148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533276601	chr10:55154149-55154150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574823173	chr10:55154238-55154239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549944022	chr10:55154285-55154286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569964648	chr10:55154295-55154296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55149800-55154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:55151200-55155400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55152600-55153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:55153400-55154800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:55153400-55157000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr10:55153800-55156800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:55154200-55156400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr10:55154400-55157600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr10:55154600-55155800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:55154800-55156400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr10:55155400-55155800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:55155600-55156200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr10:55155800-55157400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55156800-55157600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr10:55161200-55162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:55161400-55161600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
17	chr10:55161600-55162600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr10:55162200-55165600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr10:55162200-55166400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:55162600-55163000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:55162600-55164600	Enhancers	Fetal Muscle Leg	muscle
22	chr10:55162800-55163600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:55162800-55164400	Enhancers	Liver	Liver
24	chr10:55162800-55164800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:55163000-55164200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:55163000-55164600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr10:55163000-55164800	Enhancers	Fetal Heart	heart
28	chr10:55163000-55164800	Enhancers	Fetal Muscle Trunk	muscle
29	chr10:55163000-55164800	Enhancers	HUVEC	blood vessel
30	chr10:55163200-55163400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:55163200-55164200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:55163200-55164200	Enhancers	Left Ventricle	heart
33	chr10:55163200-55165200	Enhancers	Fetal Brain Male	brain
34	chr10:55163200-55165200	Enhancers	Fetal Brain Female	brain
35	chr10:55163400-55164200	Enhancers	Adipose Nuclei	Adipose
36	chr10:55163400-55164200	Enhancers	Ovary	ovary
37	chr10:55163400-55164200	Enhancers	Pancreas	Pancrea
38	chr10:55163400-55164200	Enhancers	Right Atrium	heart
39	chr10:55163400-55164200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr10:55163400-55164400	Enhancers	Brain Germinal Matrix	brain
41	chr10:55163400-55164400	Enhancers	Stomach Mucosa	stomach
42	chr10:55163400-55164600	Enhancers	Gastric	stomach
43	chr10:55163400-55164600	Enhancers	Lung	lung
44	chr10:55163400-55164600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:55163400-55164600	Enhancers	Spleen	Spleen
46	chr10:55163600-55164000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:55163600-55164200	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:55163600-55164400	Enhancers	Fetal Stomach	stomach
49	chr10:55164000-55165000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:55164200-55164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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