Variant report

Variant	esv1804065
Chromosome Location	chr10:37416376-37526817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr10:37514086-37514510	A549	lung:	n/a	n/a
2	BRCA1	chr10:37523826-37523908	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:37497923-37498188	A549	lung:	n/a	chr10:37498022-37498033
4	CEBPB	chr10:37514091-37514499	A549	lung:	n/a	n/a
5	CEBPB	chr10:37498007-37498168	HepG2	liver:	n/a	chr10:37498022-37498033
6	CEBPB	chr10:37523738-37523938	A549	lung:	n/a	n/a
7	CEBPB	chr10:37487403-37487685	A549	lung:	n/a	n/a
8	CEBPB	chr10:37487363-37487743	A549	lung:	n/a	n/a
9	CEBPB	chr10:37487370-37487673	HepG2	liver:	n/a	n/a
10	CTCF	chr10:37438290-37438316	GM13976	blood:	n/a	n/a
11	CTCF	chr10:37435260-37435410	A549	lung:	n/a	n/a
12	CTCF	chr10:37435502-37435529	Medullo	brain:	n/a	n/a
13	CTCF	chr10:37435531-37435558	Lung_OC	lung:	n/a	n/a
14	CTCF	chr10:37435431-37435556	HepG2	liver:	n/a	n/a
15	CTCF	chr10:37435386-37435516	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr10:37435407-37435587	LNCaP	prostate:	n/a	n/a
18	CTCF	chr10:37418889-37418975	Lung_OC	lung:	n/a	n/a
19	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
21	CTCF	chr10:37491880-37492030	HepG2	liver:	n/a	n/a
22	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
23	CTCF	chr10:37435382-37435591	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
25	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
26	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
27	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
29	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr10:37435420-37435570	Caco-2	colon:	n/a	n/a
31	CTCF	chr10:37432032-37432118	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr10:37435309-37435701	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:37435380-37435587	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:37435382-37435557	MCF-7	breast:	n/a	n/a
35	CTCF	chr10:37491863-37491898	Lung_OC	lung:	n/a	n/a
36	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
37	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
38	CTCF	chr10:37423479-37423562	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr10:37435257-37435682	MCF-7	breast:	n/a	n/a
40	CTCF	chr10:37435417-37435570	LNCaP	prostate:	n/a	n/a
41	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
42	CTCF	chr10:37430709-37430736	LNCaP	prostate:	n/a	n/a
43	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
44	CTCF	chr10:37435405-37435569	A549	lung:	n/a	n/a
45	CTCF	chr10:37435400-37435550	Caco-2	colon:	n/a	n/a
46	CTCF	chr10:37435400-37435550	HepG2	liver:	n/a	n/a
47	CTCF	chr10:37424265-37424332	GM10248	blood:	n/a	n/a
48	CTCF	chr10:37435360-37435510	HEK293	kidney:	n/a	n/a
49	CTCF	chr10:37435360-37435606	MCF-7	breast:	n/a	n/a
50	CTCF	chr10:37435447-37435520	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37418731-37418781	AoSMC	blood vessel:	n/a
2	chr10:37418731-37418781	CMK	blood:	n/a
3	chr10:37418731-37418781	Caco-2	colon:	n/a
4	chr10:37418731-37418781	PANC-1	pancreas:	n/a
5	chr10:37418731-37418781	T-47D	breast:	n/a
6	chr10:37418731-37418781	HNPCEpiC	eye:	n/a
7	chr10:37418731-37418781	SAEC	small airway:	n/a
8	chr10:37418731-37418781	AG10803	skin:	n/a
9	chr10:37418731-37418781	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:37418731-37418781	HCM	heart:	n/a
11	chr10:37418731-37418781	U87	brain:	n/a
12	chr10:37418731-37418781	HRCEpiC	kidney:	n/a
13	chr10:37418731-37418781	SK-N-SH_RA	brain:	n/a
14	chr10:37418731-37418781	HRE	kidney:	n/a
15	chr10:37418731-37418781	HCT-116	colon:	n/a
16	chr10:37418731-37418781	HMEC	breast:	n/a
17	chr10:37418731-37418781	GM12878	blood:	n/a
18	chr10:37418731-37418781	MCF10A-Er-Src	breast:	n/a
19	chr10:37418731-37418781	HAEpiC	amniotic membrane:	n/a
20	chr10:37418731-37418781	AG04450	lung:	fetal
21	chr10:37418731-37418781	GM06990	blood:	n/a
22	chr10:37418731-37418781	BJ	skin:	n/a
23	chr10:37418731-37418781	HEK293	kidney:	embryo
24	chr10:37418731-37418781	AG04449	skin:	fetal
25	chr10:37418731-37418781	GM12892	blood:	n/a
26	chr10:37418731-37418781	RPTEC	kidney:	n/a
27	chr10:37418731-37418781	ECC-1	luminal epithelium:	n/a
28	chr10:37418731-37418781	PFSK-1	brain:	n/a
29	chr10:37418731-37418781	NT2-D1	testis:	n/a
30	chr10:37418731-37418781	HCPEpiC	choroid plexus:	n/a
31	chr10:37418731-37418781	PrEC	prostate:	n/a
32	chr10:37418731-37418781	NB4	blood:	n/a
33	chr10:37418731-37418781	ProgFib	skin:	n/a
34	chr10:37418731-37418781	HL-60	blood:	n/a
35	chr10:37418731-37418781	HEEpiC	esophagus:	n/a
36	chr10:37418731-37418781	BE2_C	brain:	n/a
37	chr10:37418731-37418781	SKMC	muscle:	n/a
38	chr10:37418731-37418781	K562	blood:	n/a
39	chr10:37418731-37418781	Hela-S3	cervix:	n/a
40	chr10:37418731-37418781	H1-hESC	embryonic stem cell:	embryo
41	chr10:37418731-37418781	GM19239	blood:	n/a
42	chr10:37418731-37418781	HepG2	liver:	n/a
43	chr10:37418731-37418781	IMR90	lung:	fetal
44	chr10:37418731-37418781	SK-N-MC	brain:	n/a
45	chr10:37418731-37418781	A549	lung:	n/a
46	chr10:37418731-37418781	SK-N-SH	brain:	n/a
47	chr10:37418731-37418781	Jurkat	blood:	n/a
48	chr10:37418731-37418781	MCF-7	breast:	n/a
49	chr10:37418731-37418781	NHDF-neo	bronchial:	n/a
50	chr10:37418731-37418781	Hepatocyte	liver:	n/a

(count:2 , 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:
2	chr10:37516770..37517707-chr4:4543279..4544231,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD30A	TF binding region
ENSG00000234918	TF binding region
RNU6-811P	TF binding region
ANKRD30A	CpG island
ENSG00000234918	CpG island
RNU6-811P	CpG island
ENSG00000247708	chromatin interactions
ENSG00000168818	chromatin interactions

Extended variants
information (count: 2835 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:2835 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572749077	chr10:37418216-37418217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534552081	chr10:37418258-37418259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192029380	chr10:37418348-37418349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574687951	chr10:37418349-37418350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181971307	chr10:37418448-37418449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540563237	chr10:37418483-37418484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79055227	chr10:37418491-37418492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576094036	chr10:37418496-37418497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545119921	chr10:37418531-37418532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565261664	chr10:37418588-37418589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541910467	chr10:37418611-37418612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527868800	chr10:37418655-37418656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149964576	chr10:37418680-37418681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72246787	chr10:37418691-37418692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376225408	chr10:37418693-37418694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201093190	chr10:37418695-37418696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530336955	chr10:37418731-37418732	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549771613	chr10:37418737-37418738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569693105	chr10:37418741-37418742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187870826	chr10:37420286-37420287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539364470	chr10:37420339-37420340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552516326	chr10:37420384-37420385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532292697	chr10:37420393-37420394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140324506	chr10:37420419-37420420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535056084	chr10:37420427-37420428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554757635	chr10:37420467-37420468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192159877	chr10:37420477-37420478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546050445	chr10:37420483-37420484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112865671	chr10:37420504-37420505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559588414	chr10:37420536-37420537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76881056	chr10:37420660-37420661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557595625	chr10:37420673-37420674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376457524	chr10:37420687-37420688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150923287	chr10:37421790-37421791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188287104	chr10:37421792-37421793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566731359	chr10:37421843-37421844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs180828179	chr10:37421915-37421916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369817643	chr10:37421932-37421933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573762089	chr10:37422784-37422785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542882469	chr10:37422809-37422810	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562766397	chr10:37422833-37422834	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369118323	chr10:37422851-37422852	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371683302	chr10:37422891-37422892	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375872763	chr10:37422916-37422917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200565471	chr10:37422917-37422918	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190023267	chr10:37422934-37422935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145748184	chr10:37422945-37422946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138331190	chr10:37422961-37422962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373380909	chr10:37422972-37422973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376276298	chr10:37422978-37422979	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37418200-37418800	Active TSS	A549	lung
2	chr10:37422800-37423200	Enhancers	Adipose Nuclei	Adipose
3	chr10:37434600-37436000	Enhancers	A549	lung
4	chr10:37435200-37435600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr10:37435200-37435800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr10:37435200-37435800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr10:37435600-37436200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:37436000-37439000	Weak transcription	A549	lung
9	chr10:37439000-37439400	Active TSS	A549	lung
10	chr10:37439400-37441200	Weak transcription	A549	lung
11	chr10:37441200-37441400	Enhancers	A549	lung
12	chr10:37446400-37447200	Weak transcription	A549	lung
13	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
14	chr10:37448400-37454800	Weak transcription	A549	lung
15	chr10:37454800-37455200	Enhancers	A549	lung
16	chr10:37479600-37490800	Weak transcription	A549	lung
17	chr10:37490800-37491200	Strong transcription	A549	lung
18	chr10:37491200-37507600	Weak transcription	A549	lung
19	chr10:37504200-37504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:37507600-37507800	Enhancers	A549	lung
21	chr10:37507800-37508200	Active TSS	A549	lung
22	chr10:37508200-37508800	Flanking Active TSS	A549	lung
23	chr10:37508800-37513600	Weak transcription	A549	lung
24	chr10:37513600-37514400	Active TSS	A549	lung
25	chr10:37514400-37514600	Flanking Active TSS	A549	lung
26	chr10:37514600-37515000	Enhancers	A549	lung
27	chr10:37515000-37515400	Weak transcription	A549	lung
28	chr10:37515400-37515800	ZNF genes & repeats	A549	lung
29	chr10:37515800-37517600	Weak transcription	A549	lung
30	chr10:37525200-37525400	Enhancers	Gastric	stomach
31	chr10:37525200-37525400	ZNF genes & repeats	A549	lung

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