Variant report

Variant	nsv824390
Chromosome Location	chr7:149602873-149630735
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	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:149615029-149615227	HepG2	liver:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093
3	CEBPB	chr7:149615022-149615152	A549	lung:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093
4	CEBPB	chr7:149615022-149615161	K562	blood:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093
5	CTCF	chr7:149605260-149605410	HepG2	liver:	n/a	n/a
6	CTCF	chr7:149605203-149605277	GM19238	blood:	n/a	n/a
7	CTCF	chr7:149605233-149605296	GM12891	blood:	n/a	n/a
8	CTCF	chr7:149617522-149617586	GM10248	blood:	n/a	n/a
9	CTCF	chr7:149605200-149605371	HepG2	liver:	n/a	n/a
10	CTCF	chr7:149605204-149605324	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:149605240-149605390	GM12864	blood:	n/a	n/a
12	CTCF	chr7:149605260-149605410	GM12874	blood:	n/a	n/a
13	CTCF	chr7:149605240-149605390	HepG2	liver:	n/a	n/a
14	CTCF	chr7:149605159-149605186	HepG2	liver:	n/a	n/a
15	CTCF	chr7:149605220-149605370	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:149605224-149605309	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:149605180-149605330	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:149605199-149605325	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:149605180-149605330	HCT-116	colon:	n/a	n/a
20	CTCF	chr7:149626704-149626756	GM20000	blood:	n/a	n/a
21	CTCF	chr7:149617847-149617866	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:149621960-149622110	A549	lung:	n/a	n/a
23	CTCF	chr7:149605260-149605410	K562	blood:	n/a	n/a
24	CTCF	chr7:149605214-149605272	GM12892	blood:	n/a	n/a
25	CTCF	chr7:149605123-149605342	K562	blood:	n/a	n/a
26	CTCF	chr7:149605160-149605310	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr7:149613225-149613295	Lung_OC	lung:	n/a	n/a
28	CTCF	chr7:149605266-149605313	GM13976	blood:	n/a	n/a
29	CTCF	chr7:149605192-149605335	K562	blood:	n/a	n/a
30	CTCF	chr7:149605187-149605328	HepG2	liver:	n/a	n/a
31	CTCF	chr7:149605232-149605311	Fibrobl	skin:	n/a	n/a
32	CTCF	chr7:149610575-149610625	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr7:149603856-149603914	GM10248	blood:	n/a	n/a
34	CTCF	chr7:149629125-149629232	GM13977	blood:	n/a	n/a
35	CTCF	chr7:149605196-149605319	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:149605157-149605338	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:149605203-149605316	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:149605261-149605284	K562	blood:	n/a	n/a
39	EP300	chr7:149627559-149627772	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr7:149627525-149627846	SK-N-SH_RA	brain:	n/a	n/a
41	GATA2	chr7:149627520-149627930	SH-SY5Y	brain:	n/a	n/a
42	GATA2	chr7:149607252-149607580	K562	blood:	n/a	n/a
43	GATA3	chr7:149627583-149627821	SH-SY5Y	brain:	n/a	n/a
44	MAFF	chr7:149604693-149604893	K562	blood:	n/a	n/a
45	MAFF	chr7:149604690-149604930	HepG2	liver:	n/a	n/a
46	MAFK	chr7:149604686-149604962	HepG2	liver:	n/a	n/a
47	MAFK	chr7:149614550-149614609	HepG2	liver:	n/a	chr7:149614589-149614598 chr7:149614585-149614605 chr7:149614592-149614601 chr7:149614591-149614601
48	MAFK	chr7:149614460-149614654	IMR90	lung:	n/a	chr7:149614589-149614598 chr7:149614585-149614605 chr7:149614592-149614601 chr7:149614591-149614601
49	MAFK	chr7:149614436-149614696	HepG2	liver:	n/a	chr7:149614589-149614598 chr7:149614585-149614605 chr7:149614592-149614601 chr7:149614591-149614601
50	MAFK	chr7:149604705-149604909	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-

Variant related genes	Relation type
ENSG00000224016	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540295688	chr7:149604432-149604433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376796839	chr7:149604451-149604452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577004123	chr7:149604470-149604471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149303607	chr7:149604557-149604558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67267294	chr7:149604564-149604565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370945399	chr7:149604565-149604566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530544602	chr7:149604567-149604568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61574345	chr7:149604572-149604573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368236949	chr7:149604573-149604574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550339032	chr7:149604574-149604575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6979590	chr7:149604680-149604681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371935017	chr7:149604698-149604699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374749326	chr7:149604707-149604708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550564958	chr7:149604756-149604757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561306548	chr7:149604762-149604763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201701741	chr7:149607309-149607310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539883224	chr7:149607315-149607316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556557303	chr7:149607384-149607385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576501491	chr7:149607410-149607411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541923922	chr7:149607421-149607422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562194711	chr7:149607438-149607439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201917674	chr7:149607551-149607552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116746052	chr7:149607554-149607555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541219610	chr7:149607558-149607559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545458737	chr7:149607866-149607867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150442013	chr7:149607882-149607883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563748666	chr7:149607907-149607908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528032210	chr7:149607908-149607909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs539841628	chr7:149607934-149607935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs60549640	chr7:149607935-149607936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs397959230	chr7:149607944-149607945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs556611845	chr7:149607970-149607971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs562288318	chr7:149607976-149607977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576392659	chr7:149608005-149608006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535818902	chr7:149608023-149608024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555623797	chr7:149608044-149608045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572489822	chr7:149608045-149608046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs371308709	chr7:149608879-149608880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555690045	chr7:149608922-149608923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151197801	chr7:149608938-149608939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376697092	chr7:149608968-149608969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374585400	chr7:149608969-149608970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2969841	chr7:149608979-149608980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185939733	chr7:149608999-149609000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190644552	chr7:149609000-149609001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543591423	chr7:149609002-149609003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368826229	chr7:149609041-149609042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62490798	chr7:149609056-149609057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557415362	chr7:149609075-149609076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368698270	chr7:149609078-149609079	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149604400-149604800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:149608800-149609200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:149608800-149609200	Enhancers	HSMM	muscle
4	chr7:149609000-149609400	Enhancers	HSMMtube	muscle
5	chr7:149623400-149623800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:149623600-149624400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:149627400-149627600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:149627600-149627800	Enhancers	Placenta	Placenta

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