Variant report

Variant	nsv895025
Chromosome Location	chr10:37239565-37292750
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	CCNT2	chr10:37249406-37249693	K562	blood:	n/a	n/a
2	CEBPB	chr10:37278886-37279217	A549	lung:	n/a	chr10:37279000-37279011
3	CEBPB	chr10:37278836-37279148	HepG2	liver:	n/a	chr10:37279000-37279011
4	CEBPB	chr10:37261191-37261403	A549	lung:	n/a	chr10:37261296-37261307
5	CEBPB	chr10:37261148-37261473	HepG2	liver:	n/a	chr10:37261296-37261307
6	CEBPB	chr10:37261121-37261440	IMR90	lung:	n/a	chr10:37261296-37261307
7	CEBPB	chr10:37261129-37261444	K562	blood:	n/a	chr10:37261296-37261307
8	CEBPB	chr10:37278874-37279042	K562	blood:	n/a	chr10:37279000-37279011
9	CTCF	chr10:37264137-37264224	LNCaP	prostate:	n/a	n/a
10	CTCF	chr10:37286948-37287062	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:37286995-37287014	Fibrobl	skin:	n/a	n/a
12	CTCF	chr10:37275440-37275590	SAEC	small airway:	n/a	n/a
13	CTCF	chr10:37260483-37260503	GM10266	blood:	n/a	n/a
14	CTCF	chr10:37283185-37283207	ProgFib	skin:	n/a	n/a
15	CTCF	chr10:37286977-37287048	A549	lung:	n/a	n/a
16	CTCF	chr10:37262383-37262456	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:37286972-37287047	MCF-7	breast:	n/a	n/a
18	CTCF	chr10:37286969-37287037	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:37271103-37271163	GM10266	blood:	n/a	n/a
20	CTCF	chr10:37286962-37287052	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:37265980-37266130	GM12864	blood:	n/a	n/a
22	CTCF	chr10:37262785-37262802	K562	blood:	n/a	n/a
23	CUX1	chr10:37266486-37266708	K562	blood:	n/a	n/a
24	GATA3	chr10:37266724-37267403	SH-SY5Y	brain:	n/a	chr10:37266918-37266929 chr10:37267257-37267267 chr10:37266891-37266907
25	JUN	chr10:37267143-37267161	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUN	chr10:37261255-37261312	HepG2	liver:	n/a	chr10:37261293-37261306
27	JUND	chr10:37261232-37261413	HepG2	liver:	n/a	n/a
28	MAFK	chr10:37272134-37272345	HepG2	liver:	n/a	chr10:37272218-37272227 chr10:37272217-37272231 chr10:37272216-37272232 chr10:37272218-37272228 chr10:37272214-37272234
29	MAFK	chr10:37272100-37272331	HepG2	liver:	n/a	chr10:37272218-37272227 chr10:37272217-37272231 chr10:37272216-37272232 chr10:37272218-37272228 chr10:37272214-37272234
30	MAX	chr10:37284757-37285048	MCF-7	breast:	n/a	n/a
31	MYC	chr10:37250418-37250513	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr10:37286950-37287051	MCF-7	breast:	n/a	n/a
33	NFYB	chr10:37277709-37278087	K562	blood:	n/a	n/a
34	NFYB	chr10:37277695-37278040	GM12878	blood:	n/a	n/a
35	NR2F2	chr10:37284695-37285047	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:37281330-37281343	A549	lung:	n/a	n/a
37	POLR2A	chr10:37265776-37265982	ProgFib	skin:	n/a	n/a
38	POLR2A	chr10:37286956-37287031	A549	lung:	n/a	n/a
39	POLR2A	chr10:37256344-37256544	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:37259514-37259520	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr10:37268798-37268906	A549	lung:	n/a	n/a
42	POLR2A	chr10:37242121-37242163	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:37287022-37287049	MCF-7	breast:	n/a	n/a
44	POLR2A	chr10:37247889-37248032	ProgFib	skin:	n/a	n/a
45	POLR2A	chr10:37274843-37274972	Gliobla	brain:	n/a	n/a
46	POLR2A	chr10:37288978-37289078	MCF-7	breast:	n/a	n/a
47	POLR2A	chr10:37283049-37283118	Gliobla	brain:	n/a	n/a
48	RFX5	chr10:37251294-37251638	K562	blood:	n/a	n/a
49	STAT3	chr10:37264784-37264975	MCF10A-Er-Src	breast:	n/a	n/a
50	ZNF143	chr10:37259011-37259155	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37244571..37247312-chr11:80401108..80403233,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-11	chr10:37283951-37284513	NONHSAT012759

Variant related genes	Relation type
ARL6IP1P2	TF binding region

Extended variants
information (count: 235 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529696017	chr10:37269620-37269621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138244566	chr10:37269644-37269645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117875597	chr10:37269645-37269646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532192777	chr10:37269649-37269650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118109101	chr10:37269694-37269695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181268333	chr10:37269756-37269757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149577114	chr10:37269757-37269758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534934522	chr10:37269759-37269760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554166839	chr10:37269760-37269761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567665834	chr10:37269785-37269786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185343059	chr10:37269786-37269787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556685270	chr10:37269811-37269812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576642045	chr10:37269841-37269842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188494379	chr10:37269877-37269878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545247554	chr10:37269914-37269915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12253052	chr10:37269934-37269935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs180956851	chr10:37269935-37269936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111566219	chr10:37269938-37269939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12253061	chr10:37269958-37269959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529634600	chr10:37269964-37269965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12253224	chr10:37269990-37269991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139856199	chr10:37274635-37274636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540734402	chr10:37274665-37274666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143216694	chr10:37274698-37274699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555810637	chr10:37274715-37274716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575598727	chr10:37274742-37274743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151131125	chr10:37274761-37274762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79851864	chr10:37274847-37274848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114913486	chr10:37274848-37274849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557690155	chr10:37274850-37274851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77570858	chr10:37274859-37274860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544643715	chr10:37274873-37274874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564905476	chr10:37274898-37274899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546720683	chr10:37274910-37274911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34064582	chr10:37274915-37274916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184734080	chr10:37274925-37274926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547083922	chr10:37274963-37274964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567061559	chr10:37274985-37274986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529822458	chr10:37274999-37275000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549971480	chr10:37275105-37275106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74135219	chr10:37275113-37275114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189497627	chr10:37275181-37275182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538936277	chr10:37275209-37275210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181009409	chr10:37275212-37275213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571611960	chr10:37275213-37275214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115455833	chr10:37275223-37275224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183767078	chr10:37275230-37275231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189617664	chr10:37275246-37275247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559300710	chr10:37275270-37275271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572976734	chr10:37275304-37275305	Enhancers	n/a	n/a	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37269600-37270000	Enhancers	Placenta	Placenta
2	chr10:37274600-37275600	Enhancers	Adipose Nuclei	Adipose
3	chr10:37278000-37278800	ZNF genes & repeats	Placenta	Placenta
4	chr10:37278200-37278400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:37278600-37278800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:37281200-37281400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:37289000-37289200	Enhancers	Fetal Intestine Large	intestine
8	chr10:37289400-37290600	Weak transcription	Fetal Intestine Large	intestine
9	chr10:37290600-37291000	Enhancers	Fetal Intestine Large	intestine

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