Variant report

Variant	nsv1041044
Chromosome Location	chr10:54998015-55043199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55015124..55017354-chr10:55018929..55021209,2	K562	blood:
2	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
3	chr10:55010159..55011051-chr10:101190203..101191138,2	Hela-S3	cervix:
4	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
5	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
6	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
7	chr10:55015124..55017354-chr10:55018929..55021209,2	K562	blood:

Variant related genes	Relation type
ENSG00000224934	chromatin interactions
ENSG00000120053	chromatin interactions

Extended variants
information (count: 1167 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547180170	chr10:54998049-54998050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570487132	chr10:54998074-54998075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143073780	chr10:54998089-54998090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75840054	chr10:54998124-54998125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570394413	chr10:54998133-54998134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536141894	chr10:54998164-54998165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555968721	chr10:54998229-54998230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575014463	chr10:54998304-54998305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150918175	chr10:54998319-54998320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10824954	chr10:54998326-54998327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557984177	chr10:54998375-54998376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577685724	chr10:54998410-54998411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572493061	chr10:54998421-54998422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10824955	chr10:54998435-54998436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531539337	chr10:54998449-54998450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372213322	chr10:54998464-54998465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143968924	chr10:54998483-54998484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559420771	chr10:54998492-54998493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71490948	chr10:54998576-54998577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527504365	chr10:54998578-54998579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547535770	chr10:54998602-54998603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190113402	chr10:54998608-54998609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369218625	chr10:54998609-54998610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182788141	chr10:54998613-54998614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548162045	chr10:54998652-54998653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185931635	chr10:54998683-54998684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568079828	chr10:54998709-54998710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191728446	chr10:54998752-54998753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569662025	chr10:54998848-54998849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535391966	chr10:54998896-54998897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555792675	chr10:54998906-54998907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183971502	chr10:54998928-54998929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140994549	chr10:54998954-54998955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534925040	chr10:54998979-54998980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374253370	chr10:54999064-54999065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558308814	chr10:54999067-54999068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143004800	chr10:54999097-54999098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530736986	chr10:54999102-54999103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537137255	chr10:54999125-54999126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150814428	chr10:54999146-54999147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188972538	chr10:54999149-54999150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192700595	chr10:54999170-54999171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561850638	chr10:54999275-54999276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572277432	chr10:54999302-54999303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540899075	chr10:54999306-54999307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564260138	chr10:54999307-54999308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143747989	chr10:54999308-54999309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533102360	chr10:54999312-54999313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201039319	chr10:54999313-54999314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549902183	chr10:54999316-54999317	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54985200-55005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55003200-55004000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:55005200-55006200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:55005600-55007000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr10:55005800-55006000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:55006000-55006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:55006200-55011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:55006800-55007200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:55006800-55007200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr10:55011000-55011200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55011200-55011600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr10:55011200-55012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:55012000-55013800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55012000-55014400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr10:55012200-55013600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55012200-55014400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr10:55012600-55014600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr10:55012600-55016200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:55013200-55014400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr10:55013400-55014400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr10:55013400-55014600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr10:55013600-55013800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:55013800-55014600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:55013800-55016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:55014200-55018400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:55014400-55016000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:55014400-55016000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:55014400-55016200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:55014400-55016200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:55014600-55015800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:55014600-55016200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:55015200-55015600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:55015400-55017400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:55015800-55016800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:55015800-55017000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:55016000-55017000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr10:55016000-55017000	Enhancers	NHEK	skin
38	chr10:55016000-55017200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr10:55016000-55018000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:55016200-55016600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:55016200-55016800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr10:55016200-55016800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:55016200-55016800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr10:55016200-55016800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr10:55016200-55016800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:55016200-55017000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:55016200-55017000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:55016200-55017000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:55016200-55017000	Enhancers	HMEC	breast
50	chr10:55016200-55017800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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