Variant report

Variant	nsv1041146
Chromosome Location	chr10:37274522-37388857
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	BATF	chr10:37297179-37297340	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:37350824-37351063	HepG2	liver:	n/a	chr10:37350943-37350954
3	CEBPB	chr10:37278836-37279148	HepG2	liver:	n/a	chr10:37279000-37279011
4	CEBPB	chr10:37362915-37363172	HepG2	liver:	n/a	chr10:37363060-37363071
5	CEBPB	chr10:37278886-37279217	A549	lung:	n/a	chr10:37279000-37279011
6	CEBPB	chr10:37363016-37363205	A549	lung:	n/a	chr10:37363060-37363071
7	CEBPB	chr10:37278874-37279042	K562	blood:	n/a	chr10:37279000-37279011
8	CEBPB	chr10:37350827-37351027	A549	lung:	n/a	chr10:37350943-37350954
9	CTCF	chr10:37321109-37321180	Lung_OC	lung:	n/a	n/a
10	CTCF	chr10:37299815-37299921	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:37286972-37287047	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:37351796-37351813	GM13977	blood:	n/a	n/a
13	CTCF	chr10:37299845-37299870	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:37373481-37373540	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr10:37283185-37283207	ProgFib	skin:	n/a	n/a
16	CTCF	chr10:37299780-37299930	HEK293	kidney:	n/a	n/a
17	CTCF	chr10:37286995-37287014	Fibrobl	skin:	n/a	n/a
18	CTCF	chr10:37286962-37287052	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:37286977-37287048	A549	lung:	n/a	n/a
20	CTCF	chr10:37275440-37275590	SAEC	small airway:	n/a	n/a
21	CTCF	chr10:37286969-37287037	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:37286948-37287062	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:37299845-37299871	MCF-7	breast:	n/a	n/a
24	E2F4	chr10:37307175-37307375	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr10:37384647-37385497	A549	lung:	n/a	n/a
26	EP300	chr10:37384314-37385688	A549	lung:	n/a	n/a
27	EP300	chr10:37297248-37297500	T-47D	breast:	n/a	n/a
28	FOSL2	chr10:37342288-37342802	A549	lung:	n/a	chr10:37342578-37342587 chr10:37342577-37342588
29	FOSL2	chr10:37384593-37385143	A549	lung:	n/a	n/a
30	FOXA1	chr10:37333253-37333494	HepG2	liver:	n/a	n/a
31	FOXA1	chr10:37326974-37327206	A549	lung:	n/a	n/a
32	FOXA2	chr10:37384775-37385148	A549	lung:	n/a	n/a
33	FOXA2	chr10:37342283-37342825	A549	lung:	n/a	n/a
34	FOXA2	chr10:37333087-37333541	A549	lung:	n/a	n/a
35	FOXA2	chr10:37333129-37333538	A549	lung:	n/a	n/a
36	GATA3	chr10:37384698-37385543	A549	lung:	n/a	chr10:37385487-37385498
37	GATA3	chr10:37296948-37297655	T-47D	breast:	n/a	n/a
38	GATA3	chr10:37339752-37339919	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr10:37384383-37385572	A549	lung:	n/a	chr10:37385487-37385498
40	GATA3	chr10:37297132-37297567	T-47D	breast:	n/a	n/a
41	GATA3	chr10:37380510-37380669	SH-SY5Y	brain:	n/a	n/a
42	IRF3	chr10:37315156-37315281	GM12878	blood:	n/a	n/a
43	MAFF	chr10:37387402-37387572	HepG2	liver:	n/a	n/a
44	MAFK	chr10:37352725-37352913	HepG2	liver:	n/a	chr10:37352843-37352854 chr10:37352844-37352855 chr10:37352843-37352854 chr10:37352835-37352852 chr10:37352844-37352855
45	MAFK	chr10:37387392-37387643	HepG2	liver:	n/a	chr10:37387526-37387541
46	MAFK	chr10:37364837-37364922	HepG2	liver:	n/a	n/a
47	MAFK	chr10:37384625-37384695	HepG2	liver:	n/a	n/a
48	MAFK	chr10:37387414-37387598	HepG2	liver:	n/a	chr10:37387526-37387541
49	MAFK	chr10:37364777-37364975	HepG2	liver:	n/a	n/a
50	MAX	chr10:37284757-37285048	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:235989326..235989978-chr10:37309298..37310202,2	MCF-7	breast:
2	chr10:37283222..37285279-chr10:37296781..37298372,2	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
ENSG00000225355	chromatin interactions

Extended variants
information (count: 1065 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139856199	chr10:37274635-37274636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540734402	chr10:37274665-37274666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143216694	chr10:37274698-37274699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555810637	chr10:37274715-37274716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575598727	chr10:37274742-37274743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151131125	chr10:37274761-37274762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79851864	chr10:37274847-37274848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114913486	chr10:37274848-37274849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557690155	chr10:37274850-37274851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77570858	chr10:37274859-37274860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544643715	chr10:37274873-37274874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564905476	chr10:37274898-37274899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546720683	chr10:37274910-37274911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34064582	chr10:37274915-37274916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184734080	chr10:37274925-37274926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547083922	chr10:37274963-37274964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567061559	chr10:37274985-37274986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529822458	chr10:37274999-37275000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549971480	chr10:37275105-37275106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74135219	chr10:37275113-37275114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189497627	chr10:37275181-37275182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538936277	chr10:37275209-37275210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181009409	chr10:37275212-37275213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571611960	chr10:37275213-37275214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115455833	chr10:37275223-37275224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183767078	chr10:37275230-37275231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189617664	chr10:37275246-37275247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559300710	chr10:37275270-37275271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572976734	chr10:37275304-37275305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543214393	chr10:37275310-37275311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556731859	chr10:37275325-37275326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371168057	chr10:37275373-37275374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576619812	chr10:37275387-37275388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140614062	chr10:37275393-37275394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11010978	chr10:37275406-37275407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79191763	chr10:37275434-37275435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150474534	chr10:37275460-37275461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560626309	chr10:37275488-37275489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569196723	chr10:37275494-37275495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181795370	chr10:37275527-37275528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186110618	chr10:37275544-37275545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563501960	chr10:37275599-37275600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34703531	chr10:37278009-37278010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555747289	chr10:37278022-37278023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12146183	chr10:37278029-37278030	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192916269	chr10:37278045-37278046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558325606	chr10:37278126-37278127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs578206998	chr10:37278145-37278146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540857256	chr10:37278147-37278148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182577606	chr10:37278183-37278184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37274600-37275600	Enhancers	Adipose Nuclei	Adipose
2	chr10:37278000-37278800	ZNF genes & repeats	Placenta	Placenta
3	chr10:37278200-37278400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:37278600-37278800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:37281200-37281400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:37289000-37289200	Enhancers	Fetal Intestine Large	intestine
7	chr10:37289400-37290600	Weak transcription	Fetal Intestine Large	intestine
8	chr10:37290600-37291000	Enhancers	Fetal Intestine Large	intestine
9	chr10:37293000-37293600	Enhancers	Colon Smooth Muscle	Colon
10	chr10:37296800-37300800	Enhancers	Placenta	Placenta
11	chr10:37300800-37301200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr10:37302000-37302800	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:37302000-37306000	Enhancers	Colon Smooth Muscle	Colon
14	chr10:37302800-37303200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:37303200-37305800	Enhancers	Rectal Smooth Muscle	rectum
16	chr10:37303600-37305200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:37305800-37306400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:37306000-37306400	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:37306400-37307200	Enhancers	Rectal Smooth Muscle	rectum
20	chr10:37306400-37307400	Enhancers	Colon Smooth Muscle	Colon
21	chr10:37307400-37307800	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:37307800-37308400	Enhancers	Colon Smooth Muscle	Colon
23	chr10:37313800-37314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr10:37315600-37316800	Enhancers	Colon Smooth Muscle	Colon
25	chr10:37316200-37316800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:37342000-37343200	Enhancers	A549	lung
27	chr10:37343000-37343600	Enhancers	Adipose Nuclei	Adipose
28	chr10:37363600-37364000	Enhancers	Colon Smooth Muscle	Colon
29	chr10:37382400-37384200	Weak transcription	A549	lung
30	chr10:37384200-37385200	Enhancers	A549	lung
31	chr10:37385200-37385600	Flanking Active TSS	A549	lung
32	chr10:37385600-37387000	Weak transcription	A549	lung
33	chr10:37387000-37387400	ZNF genes & repeats	A549	lung
34	chr10:37387400-37390000	Weak transcription	A549	lung

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