Variant report

Variant	nsv1029641
Chromosome Location	chr5:29861138-29940871
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	ARID3A	chr5:29896794-29896994	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:29906116-29906603	HepG2	liver:	n/a	n/a
3	ATF1	chr5:29866502-29866522	K562	blood:	n/a	n/a
4	CCNT2	chr5:29862067-29862267	K562	blood:	n/a	n/a
5	CEBPB	chr5:29871231-29871474	H1-hESC	embryonic stem cell:	n/a	chr5:29871365-29871376
6	CEBPB	chr5:29871194-29871525	K562	blood:	n/a	chr5:29871365-29871376
7	CEBPB	chr5:29867384-29867549	K562	blood:	n/a	chr5:29867438-29867449 chr5:29867457-29867468
8	CEBPB	chr5:29919635-29919895	K562	blood:	n/a	chr5:29919747-29919758
9	CEBPB	chr5:29896727-29897079	MCF-7	breast:	n/a	chr5:29896946-29896957
10	CEBPB	chr5:29896808-29897108	HepG2	liver:	n/a	chr5:29896946-29896957
11	CEBPB	chr5:29896835-29897015	K562	blood:	n/a	chr5:29896946-29896957
12	CEBPB	chr5:29871187-29871525	HepG2	liver:	n/a	chr5:29871365-29871376
13	CEBPB	chr5:29867292-29867591	HepG2	liver:	n/a	chr5:29867438-29867449 chr5:29867457-29867468
14	CEBPB	chr5:29919582-29919826	HepG2	liver:	n/a	chr5:29919747-29919758
15	CEBPB	chr5:29885622-29885773	K562	blood:	n/a	n/a
16	CEBPB	chr5:29912988-29913093	K562	blood:	n/a	n/a
17	CEBPB	chr5:29919627-29919920	IMR90	lung:	n/a	chr5:29919747-29919758
18	CEBPB	chr5:29867305-29867513	A549	lung:	n/a	chr5:29867438-29867449 chr5:29867457-29867468
19	CEBPB	chr5:29896731-29897134	K562	blood:	n/a	chr5:29896946-29896957
20	CEBPB	chr5:29896675-29897113	MCF-7	breast:	n/a	chr5:29896946-29896957
21	CEBPB	chr5:29896757-29897147	Hela-S3	cervix:	n/a	chr5:29896946-29896957
22	CEBPB	chr5:29896838-29897111	K562	blood:	n/a	chr5:29896946-29896957
23	CEBPB	chr5:29896813-29897077	A549	lung:	n/a	chr5:29896946-29896957
24	CEBPB	chr5:29890275-29890475	HepG2	liver:	n/a	n/a
25	CTCF	chr5:29930500-29930650	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr5:29930588-29930698	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:29930480-29930630	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr5:29913821-29913867	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr5:29869440-29869590	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr5:29919258-29919292	GM13976	blood:	n/a	n/a
31	CTCF	chr5:29930604-29930673	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:29930606-29930724	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:29904147-29904182	GM20000	blood:	n/a	n/a
34	CTCF	chr5:29930540-29930690	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:29901776-29901831	GM13976	blood:	n/a	n/a
36	CTCF	chr5:29930540-29930690	HepG2	liver:	n/a	n/a
37	CTCF	chr5:29930620-29930770	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:29930577-29930722	K562	blood:	n/a	n/a
39	CTCF	chr5:29903340-29903490	AG10803	skin:	n/a	n/a
40	CTCF	chr5:29930520-29930670	BE2_C	brain:	n/a	n/a
41	CTCF	chr5:29930604-29930665	HepG2	liver:	n/a	n/a
42	CTCF	chr5:29930467-29930795	K562	blood:	n/a	n/a
43	CTCF	chr5:29930580-29930730	BE2_C	brain:	n/a	n/a
44	E2F4	chr5:29911217-29911419	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr5:29905950-29906613	HepG2	liver:	n/a	n/a
46	EP300	chr5:29896862-29897090	Hela-S3	cervix:	n/a	chr5:29896965-29896974 chr5:29896966-29896975
47	FOS	chr5:29924337-29924691	MCF10A-Er-Src	breast:	n/a	chr5:29924526-29924533 chr5:29924525-29924535 chr5:29924524-29924536 chr5:29924526-29924534
48	FOS	chr5:29896706-29897139	MCF10A-Er-Src	breast:	n/a	chr5:29896967-29896974 chr5:29896965-29896974 chr5:29896966-29896975 chr5:29896966-29896974
49	FOS	chr5:29902951-29903324	MCF10A-Er-Src	breast:	n/a	chr5:29903130-29903142 chr5:29903132-29903140
50	FOS	chr5:29935518-29935816	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:29895488..29897102-chr5:29897423..29899198,2	K562	blood:
2	chr5:29895488..29897102-chr5:29897423..29899198,2	K562	blood:
3	chr5:29923579..29925485-chr5:29926841..29929775,2	K562	blood:
4	chr5:29935580..29937249-chr5:29937410..29938956,2	K562	blood:
5	chr5:29935580..29937249-chr5:29937410..29938956,2	K562	blood:
6	chr5:29880363..29882592-chr5:29883253..29886010,2	K562	blood:
7	chr5:29862751..29864357-chr5:29864690..29866503,2	MCF-7	breast:
8	chr5:29923579..29925485-chr5:29926841..29929775,2	K562	blood:
9	chr5:29880363..29882592-chr5:29883253..29886010,2	K562	blood:
10	chr5:29852340..29854743-chr5:29859491..29862426,2	MCF-7	breast:
11	chr5:29862751..29864357-chr5:29864690..29866503,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-10	chr5:29881816-29883052	NONHSAT100866

Variant related genes	Relation type
ENSG00000233787	TF binding region

Extended variants
information (count: 918 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:918 , 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	rs150646215	chr5:29881845-29881846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs192817457	chr5:29881882-29881883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140064228	chr5:29881909-29881910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530512774	chr5:29881910-29881911	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551788564	chr5:29881924-29881925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs570091903	chr5:29881928-29881929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2115184	chr5:29881955-29881956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534290101	chr5:29881992-29881993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548083659	chr5:29882001-29882002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566198709	chr5:29882018-29882019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs2115185	chr5:29882044-29882045	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554863734	chr5:29882047-29882048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs570206945	chr5:29882089-29882090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537528154	chr5:29882154-29882155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs575151943	chr5:29882205-29882206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs544130959	chr5:29882212-29882213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs577332880	chr5:29882214-29882215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs73086622	chr5:29882238-29882239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111312866	chr5:29882246-29882247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2288448	chr5:29882284-29882285	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182664039	chr5:29882306-29882307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574598633	chr5:29882339-29882340	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542047784	chr5:29882343-29882344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs534602387	chr5:29882380-29882381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576897386	chr5:29882452-29882453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs545526677	chr5:29882456-29882457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563127409	chr5:29882487-29882488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs143625314	chr5:29882549-29882550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs146298960	chr5:29882552-29882553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs558041676	chr5:29882562-29882563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528096292	chr5:29882578-29882579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs373161722	chr5:29882589-29882590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs75181171	chr5:29882641-29882642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs187745676	chr5:29882682-29882683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs572183885	chr5:29882692-29882693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs191375375	chr5:29882731-29882732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs570243258	chr5:29882763-29882764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185033951	chr5:29882770-29882771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs10076281	chr5:29882772-29882773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570918159	chr5:29882784-29882785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs73753005	chr5:29882792-29882793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113523497	chr5:29882811-29882812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs16899665	chr5:29882819-29882820	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs16899668	chr5:29882842-29882843	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541735881	chr5:29882859-29882860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530672557	chr5:29882869-29882870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs150062486	chr5:29882875-29882876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs545551717	chr5:29882918-29882919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557146062	chr5:29882966-29882967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189454615	chr5:29882968-29882969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29887800-29889800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:29889000-29889800	Enhancers	Brain Germinal Matrix	brain
3	chr5:29894200-29894600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:29894600-29899600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:29898000-29898400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:29898000-29898400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:29898000-29898400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:29898000-29898600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:29898000-29898600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:29898000-29898600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:29898400-29899600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:29899400-29899800	Enhancers	Liver	Liver
13	chr5:29899400-29899800	Enhancers	HepG2	liver
14	chr5:29899400-29900000	Enhancers	Stomach Mucosa	stomach
15	chr5:29899600-29899800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:29899600-29900000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:29899600-29900000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:29900000-29905600	Weak transcription	Stomach Mucosa	stomach
19	chr5:29905600-29905800	Enhancers	Stomach Mucosa	stomach
20	chr5:29905600-29906800	Enhancers	HepG2	liver
21	chr5:29914200-29914600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:29931600-29935200	Weak transcription	Hela-S3	cervix
23	chr5:29935200-29936000	Enhancers	Hela-S3	cervix
24	chr5:29935200-29936200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:29935600-29936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:29935600-29936000	Enhancers	Stomach Mucosa	stomach

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