Variant report

Variant	nsv895425
Chromosome Location	chr10:55423964-55539954
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	BRCA1	chr10:55436651-55436653	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr10:55531808-55532061	HepG2	liver:	n/a	chr10:55531918-55531929
3	CEBPB	chr10:55456808-55457116	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:55484473-55484797	IMR90	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
5	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
6	CEBPB	chr10:55539511-55539751	HepG2	liver:	n/a	n/a
7	CEBPB	chr10:55482351-55482593	HepG2	liver:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
8	CEBPB	chr10:55484526-55484810	A549	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
9	CEBPB	chr10:55531778-55532075	H1-hESC	embryonic stem cell:	n/a	chr10:55531918-55531929
10	CEBPB	chr10:55482323-55482573	IMR90	lung:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
11	CEBPB	chr10:55440217-55440437	IMR90	lung:	n/a	chr10:55440348-55440359
12	CEBPB	chr10:55440562-55440588	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:55440189-55440480	HepG2	liver:	n/a	chr10:55440348-55440359
15	CEBPB	chr10:55440212-55440489	A549	lung:	n/a	chr10:55440348-55440359
16	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
17	CEBPB	chr10:55484474-55484818	HepG2	liver:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
18	CEBPB	chr10:55531788-55532061	IMR90	lung:	n/a	chr10:55531918-55531929
19	CEBPB	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
20	CHD1	chr10:55509966-55509970	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr10:55524100-55524203	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr10:55524100-55524202	GM10248	blood:	n/a	n/a
23	CTCF	chr10:55534200-55534350	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr10:55489186-55489262	GM10266	blood:	n/a	n/a
25	CTCF	chr10:55534240-55534390	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr10:55505420-55505570	HEK293	kidney:	n/a	n/a
27	CTCF	chr10:55534240-55534390	HMEC	breast:	n/a	n/a
28	CTCF	chr10:55505454-55505474	GM13976	blood:	n/a	n/a
29	CTCF	chr10:55449240-55449390	Caco-2	colon:	n/a	n/a
30	CTCF	chr10:55474500-55474650	RPTEC	kidney:	n/a	n/a
31	CTCF	chr10:55495240-55495390	Caco-2	colon:	n/a	n/a
32	CTCF	chr10:55449120-55449270	HEK293	kidney:	n/a	n/a
33	CUX1	chr10:55468897-55469062	GM12878	blood:	n/a	n/a
34	E2F4	chr10:55499586-55499784	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr10:55459418-55459857	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr10:55460942-55461538	SK-N-SH_RA	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140
37	EP300	chr10:55458801-55461793	SK-N-SH	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140 chr10:55461688-55461702
38	EP300	chr10:55450278-55450615	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr10:55459301-55459901	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr10:55449972-55451825	SK-N-SH	brain:	n/a	chr10:55450102-55450111 chr10:55450098-55450112
41	EP300	chr10:55450271-55450944	SK-N-SH_RA	brain:	n/a	n/a
42	ESR1	chr10:55462314-55462532	ECC-1	luminal epithelium:	n/a	chr10:55462421-55462438
43	FOS	chr10:55525124-55525451	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
44	FOS	chr10:55456774-55457124	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
45	FOS	chr10:55525146-55525447	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
46	FOS	chr10:55525146-55525434	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
47	FOS	chr10:55456776-55457150	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
48	FOS	chr10:55456749-55457153	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
49	FOS	chr10:55456783-55457132	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
50	FOS	chr10:55525124-55525472	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302

No.	Distal block	Cell Line	Cell type
1	10:55527193-55535408..10:55949104-55956834	K562	blood:
2	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
3	chr10:55481740..55482260-chr20:52673713..52674214,2	MCF-7	breast:
4	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DKK1-4	chr10:55526160-55526374	NONHSAT013453

Variant related genes	Relation type
ENSG00000233805	TF binding region

Extended variants
information (count: 1780 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11003752	chr10:55423964-55423965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189388906	chr10:55424028-55424029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551510597	chr10:55424044-55424045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571501814	chr10:55424046-55424047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181837388	chr10:55424062-55424063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557215956	chr10:55424244-55424245	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10825087	chr10:55424251-55424252	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10825088	chr10:55424269-55424270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552810814	chr10:55424271-55424272	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186479699	chr10:55424331-55424332	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544879784	chr10:55424339-55424340	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565124386	chr10:55424347-55424348	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575503830	chr10:55424360-55424361	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544554747	chr10:55424411-55424412	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138719839	chr10:55424412-55424413	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529294712	chr10:55424459-55424460	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61862530	chr10:55424510-55424511	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200871460	chr10:55424513-55424514	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77072446	chr10:55424524-55424525	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190863364	chr10:55424559-55424560	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530246393	chr10:55424581-55424582	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528629200	chr10:55424597-55424598	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551448732	chr10:55424619-55424620	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549933583	chr10:55424627-55424628	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180859621	chr10:55424628-55424629	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186514578	chr10:55424653-55424654	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373317583	chr10:55424665-55424666	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567913923	chr10:55424696-55424697	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144033281	chr10:55424747-55424748	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7075370	chr10:55424759-55424760	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191345934	chr10:55424770-55424771	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs538779950	chr10:55424832-55424833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369462571	chr10:55424894-55424895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558673058	chr10:55424923-55424924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552194381	chr10:55424940-55424941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183598639	chr10:55424947-55424948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs59758158	chr10:55424949-55424950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574626507	chr10:55424979-55424980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540151431	chr10:55425054-55425055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113732007	chr10:55425095-55425096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565733888	chr10:55425107-55425108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534970652	chr10:55425138-55425139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559735994	chr10:55425144-55425145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60707383	chr10:55425146-55425147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528457335	chr10:55425165-55425166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565635287	chr10:55425201-55425202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116747350	chr10:55425209-55425210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187472205	chr10:55425230-55425231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35499086	chr10:55425290-55425291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370352787	chr10:55425295-55425296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
2	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
7	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
13	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
16	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
17	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
20	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
23	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
24	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
25	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr10:55424400-55424800	Enhancers	Liver	Liver
29	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
30	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
31	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr10:55424400-55424800	Enhancers	Ovary	ovary
33	chr10:55424400-55424800	Enhancers	Right Ventricle	heart
34	chr10:55424400-55425000	Enhancers	Fetal Muscle Leg	muscle
35	chr10:55424600-55424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:55424600-55424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:55424600-55424800	Flanking Active TSS	Fetal Kidney	kidney
38	chr10:55424600-55424800	Enhancers	Left Ventricle	heart
39	chr10:55424600-55424800	Enhancers	Pancreas	Pancrea
40	chr10:55424600-55424800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr10:55424600-55424800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr10:55424600-55424800	Enhancers	HMEC	breast
43	chr10:55424600-55425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:55424600-55425000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:55424600-55425000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:55424600-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:55424800-55425000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr10:55424800-55425000	Enhancers	Fetal Kidney	kidney
49	chr10:55424800-55425000	Enhancers	Fetal Lung	lung
50	chr10:55424800-55425000	Enhancers	Rectal Mucosa Donor 29	rectum

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