Variant report

Variant	esv2759757
Chromosome Location	chr10:57202035-57318844
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	BHLHE40	chr10:57206631-57206648	GM12878	blood:	n/a	n/a
5	CEBPB	chr10:57273208-57273319	A549	lung:	n/a	n/a
6	CEBPB	chr10:57309741-57310318	Hela-S3	cervix:	n/a	chr10:57309876-57309889 chr10:57309876-57309889
7	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
8	CEBPB	chr10:57311412-57311742	IMR90	lung:	n/a	chr10:57311550-57311561 chr10:57311552-57311561 chr10:57311550-57311563 chr10:57311550-57311563 chr10:57311552-57311561 chr10:57311552-57311561
9	CEBPB	chr10:57311413-57311728	K562	blood:	n/a	chr10:57311550-57311561 chr10:57311552-57311561 chr10:57311550-57311563 chr10:57311550-57311563 chr10:57311552-57311561 chr10:57311552-57311561
10	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
11	CEBPB	chr10:57237218-57237556	IMR90	lung:	n/a	n/a
12	CEBPB	chr10:57309743-57310002	HepG2	liver:	n/a	chr10:57309876-57309889 chr10:57309876-57309889
13	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
14	CEBPB	chr10:57311449-57311734	A549	lung:	n/a	chr10:57311550-57311561 chr10:57311552-57311561 chr10:57311550-57311563 chr10:57311550-57311563 chr10:57311552-57311561 chr10:57311552-57311561
15	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
16	CEBPB	chr10:57225080-57225148	H1-hESC	embryonic stem cell:	n/a	chr10:57225110-57225123
17	CEBPB	chr10:57311390-57311729	H1-hESC	embryonic stem cell:	n/a	chr10:57311550-57311561 chr10:57311552-57311561 chr10:57311550-57311563 chr10:57311550-57311563 chr10:57311552-57311561 chr10:57311552-57311561
18	CEBPB	chr10:57252782-57253000	HepG2	liver:	n/a	chr10:57252833-57252844
19	CEBPB	chr10:57224946-57225254	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
20	CEBPB	chr10:57216442-57216528	A549	lung:	n/a	n/a
21	CEBPB	chr10:57272254-57272733	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr10:57224982-57225266	A549	lung:	n/a	chr10:57225110-57225123
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	CEBPB	chr10:57237198-57237523	HepG2	liver:	n/a	n/a
25	CEBPB	chr10:57224956-57225167	HepG2	liver:	n/a	chr10:57225110-57225123
26	CEBPB	chr10:57311387-57311739	HepG2	liver:	n/a	chr10:57311550-57311561 chr10:57311552-57311561 chr10:57311550-57311563 chr10:57311550-57311563 chr10:57311552-57311561 chr10:57311552-57311561
27	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
28	CEBPB	chr10:57224999-57225269	MCF-7	breast:	n/a	chr10:57225110-57225123
29	CEBPB	chr10:57224928-57225311	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
30	CEBPB	chr10:57249444-57249557	K562	blood:	n/a	chr10:57249514-57249525 chr10:57249514-57249527 chr10:57249514-57249527 chr10:57249513-57249530
31	CEBPB	chr10:57237245-57237567	H1-hESC	embryonic stem cell:	n/a	n/a
32	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
33	CHD1	chr10:57260928-57260943	GM12878	blood:	n/a	n/a
34	CREB1	chr10:57260588-57261143	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr10:57260621-57261077	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr10:57260475-57261099	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr10:57260855-57261020	GM12892	blood:	n/a	n/a
38	CTCF	chr10:57260767-57261084	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr10:57260824-57261006	K562	blood:	n/a	n/a
40	CTCF	chr10:57260807-57261030	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr10:57260802-57260963	K562	blood:	n/a	n/a
42	CTCF	chr10:57260840-57260990	HepG2	liver:	n/a	n/a
43	CTCF	chr10:57260840-57260990	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr10:57318801-57318870	Lung_OC	lung:	n/a	n/a
45	CTCF	chr10:57260840-57260990	SAEC	small airway:	n/a	n/a
46	CTCF	chr10:57280880-57281030	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr10:57260795-57260974	A549	lung:	n/a	n/a
48	CTCF	chr10:57223220-57223370	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr10:57260756-57261001	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr10:57260860-57261010	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:57229480..57229981-chr6:30931574..30932074,2	Hela-S3	cervix:
2	chr10:57295025..57295693-chr14:85958353..85959287,2	MCF-7	breast:
3	chr10:57307167..57308714-chr10:57311572..57314209,2	K562	blood:
4	chr10:57209977..57212489-chr10:57214390..57216525,2	K562	blood:
5	chr10:57307167..57308714-chr10:57311572..57314209,2	K562	blood:
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:
9	chr10:57209977..57212489-chr10:57214390..57216525,2	K562	blood:
10	chr10:57222292..57225045-chr10:57228159..57230147,2	K562	blood:
11	chr10:57223401..57225045-chr10:57228159..57229767,2	K562	blood:
12	chr10:57283681..57286527-chr10:57289887..57292236,2	K562	blood:
13	chr10:57046804..57047423-chr10:57260630..57261301,2	MCF-7	breast:

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

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

Extended variants
information (count: 594 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571609150	chr10:57204243-57204244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373053000	chr10:57204263-57204264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537291251	chr10:57204265-57204266	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376194970	chr10:57204279-57204280	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553047844	chr10:57204292-57204293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145660267	chr10:57204387-57204388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192293798	chr10:57204394-57204395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11004866	chr10:57204470-57204471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536532936	chr10:57204498-57204499	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577858444	chr10:57204578-57204579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184125056	chr10:57204580-57204581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544633662	chr10:57204585-57204586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565003450	chr10:57204628-57204629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186868910	chr10:57204631-57204632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73261610	chr10:57204637-57204638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563520095	chr10:57204656-57204657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145159692	chr10:57204668-57204669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549281681	chr10:57204692-57204693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4146654	chr10:57204701-57204702	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192120398	chr10:57204729-57204730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375801145	chr10:57204752-57204753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79116027	chr10:57204766-57204767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537519664	chr10:57204767-57204768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2184373	chr10:57204770-57204771	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567482307	chr10:57204774-57204775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543065660	chr10:57204859-57204860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536420743	chr10:57204910-57204911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377283604	chr10:57204931-57204932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139035959	chr10:57204935-57204936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78270405	chr10:57204964-57204965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538670180	chr10:57204965-57204966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140654010	chr10:57204975-57204976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575327099	chr10:57204978-57204979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543888533	chr10:57205041-57205042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560615870	chr10:57205054-57205055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573898168	chr10:57205055-57205056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11004867	chr10:57205110-57205111	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573380663	chr10:57205117-57205118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560033646	chr10:57205122-57205123	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181359576	chr10:57209858-57209859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547513197	chr10:57209935-57209936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549099938	chr10:57209973-57209974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9299561	chr10:57210001-57210002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs534791631	chr10:57210110-57210111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143743350	chr10:57210116-57210117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370464002	chr10:57210117-57210118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151090978	chr10:57210151-57210152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186330394	chr10:57210191-57210192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141070365	chr10:57210200-57210201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536213483	chr10:57210241-57210242	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57204200-57205000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:57204200-57205000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:57204200-57205000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:57204400-57204800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:57204400-57204800	Active TSS	Adipose Nuclei	Adipose
6	chr10:57204400-57205200	Active TSS	NHDF-Ad	bronchial
7	chr10:57209800-57210600	Enhancers	Fetal Heart	heart
8	chr10:57212000-57212600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:57212200-57212400	Enhancers	Fetal Heart	heart
10	chr10:57217000-57217600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:57226400-57226600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:57226600-57226800	Enhancers	Adipose Nuclei	Adipose
13	chr10:57226600-57227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:57226600-57227000	Active TSS	Right Atrium	heart
15	chr10:57226800-57227000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr10:57227000-57227400	Enhancers	Adipose Nuclei	Adipose
17	chr10:57227000-57227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:57227400-57227600	Active TSS	Adipose Nuclei	Adipose
19	chr10:57244400-57245000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:57245000-57245400	Enhancers	Fetal Heart	heart
21	chr10:57268800-57269200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:57268800-57269200	Active TSS	NHDF-Ad	bronchial
23	chr10:57268800-57269400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:57268800-57269400	Active TSS	Ovary	ovary
25	chr10:57268800-57269600	Active TSS	A549	lung
26	chr10:57268800-57269600	Active TSS	Hela-S3	cervix
27	chr10:57269000-57269400	Active TSS	Psoas Muscle	Psoas
28	chr10:57269600-57269800	Flanking Active TSS	Hela-S3	cervix
29	chr10:57277400-57278400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:57277800-57278000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr10:57277800-57278400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:57278000-57278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr10:57278200-57279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:57278200-57279600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:57278400-57278800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:57278800-57279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr10:57279200-57279600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:57286400-57287000	Enhancers	Fetal Heart	heart
39	chr10:57294000-57294600	Active TSS	Aorta	Aorta
40	chr10:57307400-57309800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr10:57308200-57308600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:57310200-57310400	Enhancers	Gastric	stomach

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