Variant report

Variant	esv3360968
Chromosome Location	chr10:37413171-37415719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:732)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:37414142-37414205	MCF-7	breast:	n/a	n/a
2	MYC	chr10:37414467-37414491	MCF-7	breast:	n/a	n/a
3	NRF1	chr10:37414349-37414653	SK-N-SH	brain:	n/a	chr10:37414504-37414513 chr10:37414504-37414518 chr10:37414506-37414515 chr10:37414501-37414515 chr10:37414504-37414515
4	POLR2A	chr10:37414143-37414204	MCF-7	breast:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37414506-37414556	HEEpiC	esophagus:	n/a
2	chr10:37413799-37413849	SAEC	small airway:	n/a
3	chr10:37414261-37414311	GM19239	blood:	n/a
4	chr10:37414802-37414852	GM06990	blood:	n/a
5	chr10:37413782-37413832	LNCaP	prostate:	n/a
6	chr10:37413782-37413832	NHBE	bronchial:	n/a
7	chr10:37414802-37414852	NB4	blood:	n/a
8	chr10:37414759-37414809	CMK	blood:	n/a
9	chr10:37413799-37413849	GM12878	blood:	n/a
10	chr10:37413799-37413849	NH-A	brain:	n/a
11	chr10:37414506-37414556	SK-N-SH_RA	brain:	n/a
12	chr10:37414261-37414311	Caco-2	colon:	n/a
13	chr10:37414759-37414809	HMEC	breast:	n/a
14	chr10:37414802-37414852	HCPEpiC	choroid plexus:	n/a
15	chr10:37414733-37414783	SKMC	muscle:	n/a
16	chr10:37414759-37414809	HCM	heart:	n/a
17	chr10:37414736-37414786	NHBE	bronchial:	n/a
18	chr10:37414506-37414556	Hepatocyte	liver:	n/a
19	chr10:37413799-37413849	HepG2	liver:	n/a
20	chr10:37414733-37414783	HRCEpiC	kidney:	n/a
21	chr10:37414802-37414852	HL-60	blood:	n/a
22	chr10:37414506-37414556	GM06990	blood:	n/a
23	chr10:37414506-37414556	U87	brain:	n/a
24	chr10:37414733-37414783	HCF	heart:	n/a
25	chr10:37414506-37414556	HCF	heart:	n/a
26	chr10:37414733-37414783	GM12878	blood:	n/a
27	chr10:37414768-37414818	HMEC	breast:	n/a
28	chr10:37414261-37414311	AoSMC	blood vessel:	n/a
29	chr10:37413799-37413849	NB4	blood:	n/a
30	chr10:37414597-37414647	T-47D	breast:	n/a
31	chr10:37414506-37414556	ProgFib	skin:	n/a
32	chr10:37414736-37414786	NH-A	brain:	n/a
33	chr10:37413782-37413832	PrEC	prostate:	n/a
34	chr10:37414597-37414647	SK-N-SH	brain:	n/a
35	chr10:37413676-37413726	T-47D	breast:	n/a
36	chr10:37414506-37414556	CMK	blood:	n/a
37	chr10:37413610-37413660	BJ	skin:	n/a
38	chr10:37414261-37414311	MCF-7	breast:	n/a
39	chr10:37414597-37414647	NH-A	brain:	n/a
40	chr10:37414597-37414647	HCT-116	colon:	n/a
41	chr10:37413676-37413726	NHDF-neo	bronchial:	n/a
42	chr10:37414597-37414647	AG09309	skin:	n/a
43	chr10:37414597-37414647	SAEC	small airway:	n/a
44	chr10:37414802-37414852	H1-hESC	embryonic stem cell:	embryo
45	chr10:37413782-37413832	CMK	blood:	n/a
46	chr10:37414261-37414311	Hepatocyte	liver:	n/a
47	chr10:37414261-37414311	PANC-1	pancreas:	n/a
48	chr10:37413799-37413849	ECC-1	luminal epithelium:	n/a
49	chr10:37413610-37413660	A549	lung:	n/a
50	chr10:37414506-37414556	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ANKRD30A	TF binding region
ANKRD30A	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2944452	chr10:37413403-37413404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543951048	chr10:37413419-37413420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545889386	chr10:37413441-37413442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs71297788	chr10:37413452-37413453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192694302	chr10:37413498-37413499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150975043	chr10:37413524-37413525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115317596	chr10:37413572-37413573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528396508	chr10:37413583-37413584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147929641	chr10:37413593-37413594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546540222	chr10:37413676-37413677	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs369399202	chr10:37413677-37413678	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs117975813	chr10:37413682-37413683	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs185741129	chr10:37413706-37413707	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs190448522	chr10:37413715-37413716	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs145899299	chr10:37413763-37413764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550718883	chr10:37413783-37413784	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs570335925	chr10:37413807-37413808	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs539278726	chr10:37413827-37413828	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs552836365	chr10:37413852-37413853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566470215	chr10:37413855-37413856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535016215	chr10:37413869-37413870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370828102	chr10:37413885-37413886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78349175	chr10:37413887-37413888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555265324	chr10:37413888-37413889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74669586	chr10:37413889-37413890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs71007621	chr10:37413907-37413908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181762978	chr10:37413912-37413913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554669754	chr10:37413946-37413947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574836368	chr10:37413975-37413976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565752745	chr10:37413998-37413999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200897330	chr10:37414007-37414008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543566222	chr10:37414029-37414030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147795150	chr10:37414033-37414034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs577491747	chr10:37414054-37414055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546454131	chr10:37414064-37414065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546532311	chr10:37414118-37414119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114832447	chr10:37414163-37414164	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528827413	chr10:37414195-37414196	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541761433	chr10:37414202-37414203	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561547489	chr10:37414218-37414219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530602383	chr10:37414223-37414224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35660139	chr10:37414241-37414242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565135809	chr10:37414269-37414270	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs184411029	chr10:37414312-37414313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575241601	chr10:37414330-37414331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566715176	chr10:37414332-37414333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535396574	chr10:37414337-37414338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537749546	chr10:37414350-37414351	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568382627	chr10:37414372-37414373	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537478114	chr10:37414381-37414382	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37413400-37414800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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