Variant report

Variant	esv1813707
Chromosome Location	chr10:37401669-37484107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:794)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:37435417-37435570	LNCaP	prostate:	n/a	n/a
2	CTCF	chr10:37406840-37406990	NB4	blood:	n/a	n/a
3	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
4	CTCF	chr10:37435502-37435529	Medullo	brain:	n/a	n/a
5	CTCF	chr10:37435260-37435410	A549	lung:	n/a	n/a
6	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr10:37406848-37406918	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:37435400-37435550	Caco-2	colon:	n/a	n/a
9	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
11	CTCF	chr10:37418889-37418975	Lung_OC	lung:	n/a	n/a
12	CTCF	chr10:37435400-37435550	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:37435407-37435587	LNCaP	prostate:	n/a	n/a
14	CTCF	chr10:37438290-37438316	GM13976	blood:	n/a	n/a
15	CTCF	chr10:37406827-37406960	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:37435257-37435682	MCF-7	breast:	n/a	n/a
17	CTCF	chr10:37435405-37435569	A549	lung:	n/a	n/a
18	CTCF	chr10:37435431-37435556	HepG2	liver:	n/a	n/a
19	CTCF	chr10:37435440-37435590	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
21	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
22	CTCF	chr10:37435480-37435630	A549	lung:	n/a	n/a
23	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
24	CTCF	chr10:37435420-37435570	Caco-2	colon:	n/a	n/a
25	CTCF	chr10:37423479-37423562	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr10:37435400-37435550	HepG2	liver:	n/a	n/a
28	CTCF	chr10:37435382-37435591	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
30	CTCF	chr10:37435531-37435558	Lung_OC	lung:	n/a	n/a
31	CTCF	chr10:37435380-37435587	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:37435400-37435550	NB4	blood:	n/a	n/a
33	CTCF	chr10:37406866-37406917	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:37432032-37432118	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr10:37424265-37424332	GM10248	blood:	n/a	n/a
36	CTCF	chr10:37435447-37435520	ProgFib	skin:	n/a	n/a
37	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
38	CTCF	chr10:37435309-37435701	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:37435360-37435510	HEK293	kidney:	n/a	n/a
40	CTCF	chr10:37435386-37435516	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr10:37435382-37435557	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:37435360-37435606	MCF-7	breast:	n/a	n/a
44	CTCF	chr10:37430709-37430736	LNCaP	prostate:	n/a	n/a
45	CUX1	chr10:37411761-37411766	K562	blood:	n/a	n/a
46	E2F4	chr10:37446270-37446422	MCF10A-Er-Src	breast:	n/a	n/a
47	EP300	chr10:37435311-37435980	A549	lung:	n/a	n/a
48	EP300	chr10:37435287-37436021	A549	lung:	n/a	n/a
49	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
50	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37413799-37413849	NT2-D1	testis:	n/a
2	chr10:37413799-37413849	NT2-D1	testis:	n/a
3	chr10:37413782-37413832	HPAEpiC	pulmonary alveolar:	n/a
4	chr10:37414733-37414783	MCF-7	breast:	n/a
5	chr10:37414733-37414783	Hepatocyte	liver:	n/a
6	chr10:37414802-37414852	ECC-1	luminal epithelium:	n/a
7	chr10:37413676-37413726	AG04450	lung:	fetal
8	chr10:37414759-37414809	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:37413799-37413849	IMR90	lung:	fetal
10	chr10:37418731-37418781	HRE	kidney:	n/a
11	chr10:37413782-37413832	MCF10A-Er-Src	breast:	n/a
12	chr10:37414759-37414809	AG04450	lung:	fetal
13	chr10:37418731-37418781	NH-A	brain:	n/a
14	chr10:37418731-37418781	SK-N-MC	brain:	n/a
15	chr10:37414802-37414852	A549	lung:	n/a
16	chr10:37413610-37413660	T-47D	breast:	n/a
17	chr10:37414759-37414809	SK-N-SH_RA	brain:	n/a
18	chr10:37413782-37413832	Hela-S3	cervix:	n/a
19	chr10:37414759-37414809	SKMC	muscle:	n/a
20	chr10:37414597-37414647	NT2-D1	testis:	n/a
21	chr10:37413799-37413849	NH-A	brain:	n/a
22	chr10:37414768-37414818	AG04449	skin:	fetal
23	chr10:37414597-37414647	HCF	heart:	n/a
24	chr10:37413676-37413726	AG09319	gingival:	n/a
25	chr10:37414506-37414556	HEK293	kidney:	embryo
26	chr10:37414506-37414556	NHBE	bronchial:	n/a
27	chr10:37414733-37414783	AG09319	gingival:	n/a
28	chr10:37414261-37414311	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:37413799-37413849	GM12891	blood:	n/a
30	chr10:37414802-37414852	ovcar-3	ovarian:	n/a
31	chr10:37414802-37414852	HRPEpiC	eye:	n/a
32	chr10:37414261-37414311	NB4	blood:	n/a
33	chr10:37413799-37413849	AG09319	gingival:	n/a
34	chr10:37413610-37413660	Hepatocyte	liver:	n/a
35	chr10:37414802-37414852	SK-N-SH	brain:	n/a
36	chr10:37414261-37414311	BJ	skin:	n/a
37	chr10:37414506-37414556	AG04450	lung:	fetal
38	chr10:37414597-37414647	SK-N-SH_RA	brain:	n/a
39	chr10:37414768-37414818	Hela-S3	cervix:	n/a
40	chr10:37413799-37413849	ECC-1	luminal epithelium:	n/a
41	chr10:37414261-37414311	AG04450	lung:	fetal
42	chr10:37413799-37413849	HCF	heart:	n/a
43	chr10:37414597-37414647	LNCaP	prostate:	n/a
44	chr10:37414802-37414852	GM12891	blood:	n/a
45	chr10:37413610-37413660	HepG2	liver:	n/a
46	chr10:37418731-37418781	A549	lung:	n/a
47	chr10:37418731-37418781	HUVEC	blood vessel:	n/a
48	chr10:37414768-37414818	AoSMC	blood vessel:	n/a
49	chr10:37413676-37413726	A549	lung:	n/a
50	chr10:37414597-37414647	HL-60	blood:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37188694..37189693-chr10:37435453..37435966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD30A	TF binding region
RNU6-811P	TF binding region
ANKRD30A	CpG island
RNU6-811P	CpG island

Extended variants
information (count: 1693 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1693 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531191204	chr10:37402020-37402021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373394676	chr10:37402027-37402028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551274271	chr10:37402039-37402040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563899717	chr10:37402040-37402041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375712090	chr10:37402122-37402123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149363359	chr10:37402125-37402126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566220580	chr10:37402171-37402172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535219743	chr10:37402266-37402267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1711248	chr10:37402291-37402292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373100024	chr10:37402295-37402296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548720457	chr10:37402316-37402317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568719084	chr10:37402343-37402344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537712717	chr10:37402363-37402364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558053145	chr10:37402380-37402381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571476839	chr10:37402392-37402393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539802211	chr10:37402421-37402422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544994792	chr10:37402478-37402479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7915159	chr10:37402501-37402502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368435620	chr10:37402560-37402561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374193085	chr10:37402597-37402598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573330669	chr10:37402619-37402620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200758981	chr10:37402653-37402654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542354497	chr10:37402699-37402700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555965153	chr10:37402702-37402703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1767321	chr10:37402739-37402740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1767322	chr10:37402749-37402750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575932845	chr10:37402755-37402756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544508626	chr10:37402763-37402764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564785878	chr10:37402764-37402765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182944839	chr10:37402782-37402783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367700114	chr10:37402805-37402806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377213057	chr10:37402810-37402811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150032857	chr10:37402855-37402856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559720231	chr10:37402857-37402858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2486110	chr10:37402868-37402869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548683446	chr10:37402873-37402874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375966656	chr10:37402906-37402907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34037542	chr10:37402908-37402909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568682014	chr10:37402917-37402918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397689589	chr10:37402927-37402928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11011039	chr10:37402929-37402930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113848349	chr10:37402944-37402945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533755360	chr10:37402970-37402971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551318830	chr10:37402971-37402972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571506831	chr10:37403023-37403024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533850470	chr10:37403024-37403025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553364978	chr10:37403055-37403056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551423290	chr10:37403056-37403057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187271078	chr10:37403059-37403060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555877403	chr10:37403061-37403062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37400000-37405000	Weak transcription	A549	lung
2	chr10:37405000-37405200	Enhancers	A549	lung
3	chr10:37405200-37405600	Active TSS	A549	lung
4	chr10:37405400-37406000	Active TSS	Placenta	Placenta
5	chr10:37405600-37405800	Weak transcription	A549	lung
6	chr10:37405800-37406800	Enhancers	A549	lung
7	chr10:37406800-37407600	Weak transcription	A549	lung
8	chr10:37407600-37408000	Enhancers	A549	lung
9	chr10:37413400-37414800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:37418200-37418800	Active TSS	A549	lung
11	chr10:37422800-37423200	Enhancers	Adipose Nuclei	Adipose
12	chr10:37434600-37436000	Enhancers	A549	lung
13	chr10:37435200-37435600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr10:37435200-37435800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:37435200-37435800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr10:37435600-37436200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:37436000-37439000	Weak transcription	A549	lung
18	chr10:37439000-37439400	Active TSS	A549	lung
19	chr10:37439400-37441200	Weak transcription	A549	lung
20	chr10:37441200-37441400	Enhancers	A549	lung
21	chr10:37446400-37447200	Weak transcription	A549	lung
22	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
23	chr10:37448400-37454800	Weak transcription	A549	lung
24	chr10:37454800-37455200	Enhancers	A549	lung
25	chr10:37479600-37490800	Weak transcription	A549	lung

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