Variant report

Variant	nsv514559
Chromosome Location	chr10:55119330-55140490
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	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:

Extended variants
information (count: 934 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371230503	chr10:55119338-55119339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143709033	chr10:55119350-55119351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566742444	chr10:55119366-55119367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185906957	chr10:55119379-55119380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200802881	chr10:55119404-55119405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34927820	chr10:55119405-55119406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201766465	chr10:55119406-55119407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558611334	chr10:55119417-55119418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16937406	chr10:55119446-55119447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374390676	chr10:55119493-55119494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537095410	chr10:55119509-55119510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557415859	chr10:55119515-55119516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371821289	chr10:55119516-55119517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11003592	chr10:55119521-55119522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11003593	chr10:55119570-55119571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147623919	chr10:55119582-55119583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142133378	chr10:55119593-55119594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560215071	chr10:55119594-55119595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116153269	chr10:55119690-55119691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530519339	chr10:55119741-55119742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543876505	chr10:55119772-55119773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369289299	chr10:55119784-55119785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370830307	chr10:55119840-55119841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191205928	chr10:55119854-55119855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529838720	chr10:55119879-55119880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182777799	chr10:55119906-55119907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187239721	chr10:55119907-55119908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11003594	chr10:55119912-55119913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77793108	chr10:55119933-55119934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66636257	chr10:55119940-55119941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202207887	chr10:55119977-55119978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532373984	chr10:55119993-55119994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552442045	chr10:55120039-55120040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569097358	chr10:55120190-55120191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537411311	chr10:55120197-55120198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368106756	chr10:55120209-55120210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118098340	chr10:55120235-55120236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12244697	chr10:55120236-55120237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529298843	chr10:55120242-55120243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192054046	chr10:55120315-55120316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531420467	chr10:55120321-55120322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573099431	chr10:55120324-55120325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386743827	chr10:55120328-55120329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545319763	chr10:55120359-55120360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559166595	chr10:55120364-55120365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369009042	chr10:55120387-55120388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575854802	chr10:55120411-55120412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544169075	chr10:55120412-55120413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560881034	chr10:55120453-55120454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529745672	chr10:55120454-55120455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55117000-55119400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr10:55117200-55119400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr10:55117200-55119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr10:55117200-55119600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:55117400-55119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55117400-55119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:55117600-55130000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:55118600-55119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:55118600-55124600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:55119200-55121800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:55119400-55120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:55119400-55124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:55119400-55124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55119600-55124600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:55120000-55120200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr10:55120600-55123600	Enhancers	Liver	Liver
17	chr10:55121200-55122200	Enhancers	HepG2	liver
18	chr10:55121400-55122000	Enhancers	Adipose Nuclei	Adipose
19	chr10:55121800-55122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:55122200-55124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:55124400-55124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr10:55124600-55124800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:55124600-55125000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:55124600-55125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:55124600-55125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:55124600-55125200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:55124600-55125400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:55125000-55130000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:55129800-55130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:55130000-55130400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:55130000-55130400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:55130000-55130800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:55130400-55136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:55130800-55141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:55139600-55140200	Enhancers	Fetal Intestine Small	intestine

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