Variant report

Variant	nsv498728
Chromosome Location	chr10:57219515-57291540
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	ATF1	chr10:57279661-57279683	K562	blood:	n/a	n/a
2	ATF3	chr10:57260799-57261003	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr10:57236016-57236217	GM12878	blood:	n/a	chr10:57236116-57236127 chr10:57236117-57236127 chr10:57236113-57236123
4	CEBPB	chr10:57224999-57225269	MCF-7	breast:	n/a	chr10:57225110-57225123
5	CEBPB	chr10:57223862-57224215	A549	lung:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
6	CEBPB	chr10:57223962-57224203	MCF-7	breast:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
7	CEBPB	chr10:57224928-57225311	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
8	CEBPB	chr10:57224982-57225266	A549	lung:	n/a	chr10:57225110-57225123
9	CEBPB	chr10:57223856-57224207	K562	blood:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
10	CEBPB	chr10:57273208-57273319	A549	lung:	n/a	n/a
11	CEBPB	chr10:57237198-57237523	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:57223877-57224215	H1-hESC	embryonic stem cell:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
13	CEBPB	chr10:57249444-57249557	K562	blood:	n/a	chr10:57249514-57249525 chr10:57249514-57249527 chr10:57249514-57249527 chr10:57249513-57249530
14	CEBPB	chr10:57225080-57225148	H1-hESC	embryonic stem cell:	n/a	chr10:57225110-57225123
15	CEBPB	chr10:57224946-57225254	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
16	CEBPB	chr10:57224956-57225167	HepG2	liver:	n/a	chr10:57225110-57225123
17	CEBPB	chr10:57237245-57237567	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr10:57223868-57224227	HepG2	liver:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
19	CEBPB	chr10:57237218-57237556	IMR90	lung:	n/a	n/a
20	CEBPB	chr10:57272254-57272733	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr10:57223863-57224203	Hela-S3	cervix:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
22	CEBPB	chr10:57252782-57253000	HepG2	liver:	n/a	chr10:57252833-57252844
23	CEBPB	chr10:57223860-57224228	IMR90	lung:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
24	CHD1	chr10:57260928-57260943	GM12878	blood:	n/a	n/a
25	CREB1	chr10:57260621-57261077	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr10:57260588-57261143	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:57260860-57261010	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr10:57260818-57261029	NHEK	skin:	n/a	n/a
29	CTCF	chr10:57260840-57260990	AG09319	gingival:	n/a	n/a
30	CTCF	chr10:57260840-57260990	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr10:57260824-57261006	K562	blood:	n/a	n/a
32	CTCF	chr10:57260840-57260990	HMF	breast:	n/a	n/a
33	CTCF	chr10:57260698-57261117	GM12878	blood:	n/a	n/a
34	CTCF	chr10:57260800-57260950	A549	lung:	n/a	n/a
35	CTCF	chr10:57260800-57260950	HRE	kidney:	n/a	n/a
36	CTCF	chr10:57260880-57261030	HEK293	kidney:	n/a	n/a
37	CTCF	chr10:57260718-57261157	MCF-7	breast:	n/a	n/a
38	CTCF	chr10:57223220-57223370	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr10:57260840-57260990	HMEC	breast:	n/a	n/a
40	CTCF	chr10:57260877-57261017	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr10:57260807-57261030	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr10:57260813-57261024	GM10248	blood:	n/a	n/a
43	CTCF	chr10:57260800-57260950	AG04449	skin:	n/a	n/a
44	CTCF	chr10:57260840-57260990	BE2_C	brain:	n/a	n/a
45	CTCF	chr10:57260820-57260970	HMEC	breast:	n/a	n/a
46	CTCF	chr10:57260840-57260990	Caco-2	colon:	n/a	n/a
47	CTCF	chr10:57260840-57260990	GM12873	blood:	n/a	n/a
48	CTCF	chr10:57260820-57260970	AG10803	skin:	n/a	n/a
49	CTCF	chr10:57260821-57260998	Lung_OC	lung:	n/a	n/a
50	CTCF	chr10:57260800-57260950	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:57283681..57286527-chr10:57289887..57292236,2	K562	blood:
2	chr10:57229480..57229981-chr6:30931574..30932074,2	Hela-S3	cervix:
3	chr10:57223401..57225045-chr10:57228159..57229767,2	K562	blood:
4	chr10:57222292..57225045-chr10:57228159..57230147,2	K562	blood:
5	chr10:57046804..57047423-chr10:57260630..57261301,2	MCF-7	breast:
6	chr10:57223401..57225045-chr10:57228159..57229767,2	K562	blood:
7	chr10:57283681..57286527-chr10:57289887..57292236,2	K562	blood:
8	chr10:57222292..57225045-chr10:57228159..57230147,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-2	chr10:57228087-57228256	ENSG00000223800
2	lnc-MTRNR2L5-2	chr10:57228837-57228982	ENSG00000223800

Variant related genes	Relation type
ENSG00000228048	TF binding region
ENSG00000223800	TF binding region

Extended variants
information (count: 347 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554244176	chr10:57223233-57223234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565977842	chr10:57223258-57223259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534632901	chr10:57223268-57223269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577535098	chr10:57223404-57223405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188873697	chr10:57223443-57223444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562264074	chr10:57223863-57223864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12221112	chr10:57223877-57223878	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs115522920	chr10:57223897-57223898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571162503	chr10:57223900-57223901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537037634	chr10:57223915-57223916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189324764	chr10:57223931-57223932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76978092	chr10:57223970-57223971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs180702587	chr10:57223994-57223995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555555582	chr10:57224058-57224059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572277900	chr10:57224063-57224064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs142080509	chr10:57224088-57224089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564761373	chr10:57224182-57224183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577990196	chr10:57224190-57224191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs543798274	chr10:57224208-57224209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535962766	chr10:57224571-57224572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140007663	chr10:57224591-57224592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572315187	chr10:57224620-57224621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs149006474	chr10:57224663-57224664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535426000	chr10:57224664-57224665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs75292850	chr10:57224674-57224675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs71014492	chr10:57224675-57224676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs570480887	chr10:57224694-57224695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534880036	chr10:57224785-57224786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144788957	chr10:57224829-57224830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs117130930	chr10:57224839-57224840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147932617	chr10:57224856-57224857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs16907450	chr10:57224857-57224858	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141598541	chr10:57224866-57224867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374526813	chr10:57224896-57224897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190126171	chr10:57224903-57224904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs113175791	chr10:57224928-57224929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551529881	chr10:57224931-57224932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535775705	chr10:57224982-57224983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565065630	chr10:57224985-57224986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530847942	chr10:57225048-57225049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550571823	chr10:57225116-57225117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566925511	chr10:57225122-57225123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181657330	chr10:57225126-57225127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs147703731	chr10:57225171-57225172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs149133750	chr10:57225179-57225180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534935404	chr10:57225220-57225221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558316779	chr10:57225249-57225250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73261663	chr10:57225254-57225255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs554103524	chr10:57225286-57225287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76602449	chr10:57226457-57226458	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57226400-57226600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:57226600-57226800	Enhancers	Adipose Nuclei	Adipose
3	chr10:57226600-57227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:57226600-57227000	Active TSS	Right Atrium	heart
5	chr10:57226800-57227000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr10:57227000-57227400	Enhancers	Adipose Nuclei	Adipose
7	chr10:57227000-57227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:57227400-57227600	Active TSS	Adipose Nuclei	Adipose
9	chr10:57244400-57245000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:57245000-57245400	Enhancers	Fetal Heart	heart
11	chr10:57268800-57269200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:57268800-57269200	Active TSS	NHDF-Ad	bronchial
13	chr10:57268800-57269400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:57268800-57269400	Active TSS	Ovary	ovary
15	chr10:57268800-57269600	Active TSS	A549	lung
16	chr10:57268800-57269600	Active TSS	Hela-S3	cervix
17	chr10:57269000-57269400	Active TSS	Psoas Muscle	Psoas
18	chr10:57269600-57269800	Flanking Active TSS	Hela-S3	cervix
19	chr10:57277400-57278400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:57277800-57278000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr10:57277800-57278400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:57278000-57278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:57278200-57279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:57278200-57279600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:57278400-57278800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:57278800-57279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:57279200-57279600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:57286400-57287000	Enhancers	Fetal Heart	heart

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