Variant report

Variant	nsv947616
Chromosome Location	chr10:55217154-55229143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:55217223-55217233	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:55219020-55219170	BE2_C	brain:	n/a	n/a
3	MAFF	chr10:55217687-55217900	K562	blood:	n/a	chr10:55217763-55217781
4	MAFF	chr10:55217632-55217940	HepG2	liver:	n/a	chr10:55217763-55217781
5	MAFF	chr10:55217135-55217399	HepG2	liver:	n/a	chr10:55217265-55217283
6	MAFF	chr10:55217155-55217329	K562	blood:	n/a	chr10:55217265-55217283
7	MAFK	chr10:55217158-55217945	IMR90	lung:	n/a	chr10:55217267-55217278 chr10:55217267-55217278 chr10:55217268-55217279 chr10:55217267-55217283 chr10:55217267-55217282 chr10:55217268-55217279 chr10:55217266-55217280
8	MAFK	chr10:55217140-55217908	HepG2	liver:	n/a	chr10:55217267-55217278 chr10:55217267-55217278 chr10:55217268-55217279 chr10:55217267-55217283 chr10:55217267-55217282 chr10:55217268-55217279 chr10:55217266-55217280
9	MAFK	chr10:55217773-55218078	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAFK	chr10:55217105-55217956	HepG2	liver:	n/a	chr10:55217267-55217278 chr10:55217267-55217278 chr10:55217268-55217279 chr10:55217267-55217283 chr10:55217267-55217282 chr10:55217268-55217279 chr10:55217266-55217280
11	MAFK	chr10:55217591-55217824	K562	blood:	n/a	n/a
12	MXI1	chr10:55223669-55223671	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr10:55226768-55226918	MCF10A-Er-Src	breast:	n/a	n/a
14	RPC155	chr10:55217815-55218263	Hela-S3	cervix:	n/a	n/a
15	TBP	chr10:55217807-55218078	GM12878	blood:	n/a	n/a
16	TBP	chr10:55217815-55218050	HepG2	liver:	n/a	n/a
17	TBP	chr10:55217900-55218023	Hela-S3	cervix:	n/a	n/a
18	TBP	chr10:55217749-55218157	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:

Variant related genes	Relation type
RNA5SP318	TF binding region

Extended variants
information (count: 479 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570754105	chr10:55217156-55217157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539861524	chr10:55217160-55217161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551500538	chr10:55217165-55217166	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79378067	chr10:55217202-55217203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs138277801	chr10:55217204-55217205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553864106	chr10:55217332-55217333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573630583	chr10:55217387-55217388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188554743	chr10:55217391-55217392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs34160070	chr10:55217402-55217403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563103410	chr10:55217416-55217417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571507745	chr10:55217427-55217428	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114933728	chr10:55217431-55217432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12248992	chr10:55217462-55217463	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192348002	chr10:55217494-55217495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373211631	chr10:55217509-55217510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543435334	chr10:55217522-55217523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35183742	chr10:55217527-55217528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562964050	chr10:55217538-55217539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs141899315	chr10:55217544-55217545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373255712	chr10:55217547-55217548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs151075513	chr10:55217553-55217554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368406228	chr10:55217583-55217584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548675607	chr10:55217585-55217586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565488115	chr10:55217594-55217595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs184941579	chr10:55217645-55217646	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186667219	chr10:55217669-55217670	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557284167	chr10:55217699-55217700	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539427649	chr10:55217700-55217701	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs191524093	chr10:55217713-55217714	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs570075933	chr10:55217741-55217742	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573699855	chr10:55217757-55217758	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538919686	chr10:55217762-55217763	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535905247	chr10:55217776-55217777	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184469967	chr10:55217859-55217860	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150633501	chr10:55217883-55217884	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138588982	chr10:55217907-55217908	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs149286893	chr10:55217916-55217917	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs578178150	chr10:55217964-55217965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146240470	chr10:55217972-55217973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139459456	chr10:55217985-55217986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528860258	chr10:55217994-55217995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532092341	chr10:55218020-55218021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371375764	chr10:55218023-55218024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144138740	chr10:55218044-55218045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145950272	chr10:55218048-55218049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148603241	chr10:55218073-55218074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189791678	chr10:55218079-55218080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181436581	chr10:55218092-55218093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1015710	chr10:55218097-55218098	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185278007	chr10:55218105-55218106	ZNF genes & repeats 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
Melanoma	17363583	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55213200-55221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:55213600-55222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:55214200-55217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55217600-55222600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55221200-55221400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:55221200-55221800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:55221600-55223400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:55221800-55223200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:55222600-55223400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:55222600-55223600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:55222800-55223600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:55223200-55224200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:55223400-55223600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:55223400-55223600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:55223400-55223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:55223400-55223800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:55223400-55223800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:55223600-55224400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:55223600-55234000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr10:55223800-55228200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:55224400-55224800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:55224800-55226400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:55225800-55228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:55227200-55227400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:55228000-55228400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:55228200-55228400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr10:55228400-55230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:55228400-55236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:55229000-55230200	Enhancers	Liver	Liver

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