Variant report

Variant	nsv1026393
Chromosome Location	chr7:27312216-27336506
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	BRCA1	chr7:27317265-27317419	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:27318239-27318432	A549	lung:	n/a	n/a
3	CEBPB	chr7:27321968-27322049	A549	lung:	n/a	n/a
4	CEBPB	chr7:27318298-27318366	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:27318968-27319122	HepG2	liver:	n/a	chr7:27318993-27319004
6	CEBPB	chr7:27318959-27319046	K562	blood:	n/a	chr7:27318993-27319004
7	CEBPB	chr7:27318985-27318999	A549	lung:	n/a	n/a
8	EP300	chr7:27317144-27317648	MCF-7	breast:	n/a	chr7:27317414-27317423
9	EP300	chr7:27317172-27317631	MCF-7	breast:	n/a	chr7:27317414-27317423
10	ESR1	chr7:27317219-27317547	T-47D	breast:	n/a	chr7:27317375-27317390 chr7:27317375-27317392 chr7:27317374-27317391
11	ESR1	chr7:27317205-27317561	T-47D	breast:	n/a	chr7:27317375-27317390 chr7:27317375-27317392 chr7:27317374-27317391
12	FOS	chr7:27317237-27317567	MCF10A-Er-Src	breast:	n/a	chr7:27317413-27317422
13	FOS	chr7:27317245-27317602	MCF10A-Er-Src	breast:	n/a	chr7:27317413-27317422
14	FOS	chr7:27317227-27317622	MCF10A-Er-Src	breast:	n/a	chr7:27317413-27317422
15	FOS	chr7:27317222-27317608	MCF10A-Er-Src	breast:	n/a	chr7:27317413-27317422
16	FOSL2	chr7:27317218-27317512	A549	lung:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
17	FOSL2	chr7:27317191-27317704	MCF-7	breast:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
18	FOSL2	chr7:27317174-27317623	HepG2	liver:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
19	FOSL2	chr7:27317201-27317709	MCF-7	breast:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
20	FOSL2	chr7:27317099-27317685	A549	lung:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
21	FOSL2	chr7:27317195-27317525	HepG2	liver:	n/a	chr7:27317413-27317422 chr7:27317411-27317422
22	FOXA1	chr7:27325208-27325432	T-47D	breast:	n/a	n/a
23	FOXA2	chr7:27316856-27317484	A549	lung:	n/a	n/a
24	FOXM1	chr7:27317177-27317768	MCF-7	breast:	n/a	n/a
25	GABPA	chr7:27314347-27314871	HL-60	blood:	n/a	n/a
26	GABPA	chr7:27314327-27314704	HL-60	blood:	n/a	n/a
27	GATA3	chr7:27324273-27324313	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr7:27325199-27325559	T-47D	breast:	n/a	n/a
29	GATA3	chr7:27317169-27317743	MCF-7	breast:	n/a	chr7:27317415-27317424
30	GATA3	chr7:27325228-27325593	T-47D	breast:	n/a	n/a
31	GATA3	chr7:27320021-27320146	SH-SY5Y	brain:	n/a	n/a
32	GTF2F1	chr7:27314219-27314337	H1-hESC	embryonic stem cell:	n/a	n/a
33	HDAC2	chr7:27317168-27317712	MCF-7	breast:	n/a	n/a
34	HDAC2	chr7:27317159-27317610	MCF-7	breast:	n/a	n/a
35	JUN	chr7:27328449-27328480	K562	blood:	n/a	n/a
36	JUND	chr7:27317272-27317540	HepG2	liver:	n/a	chr7:27317413-27317422 chr7:27317412-27317423
37	JUND	chr7:27317211-27317667	A549	lung:	n/a	chr7:27317413-27317422 chr7:27317412-27317423
38	JUND	chr7:27317192-27317754	HCT-116	colon:	n/a	chr7:27317413-27317422 chr7:27317412-27317423
39	JUND	chr7:27317192-27317711	MCF-7	breast:	n/a	chr7:27317413-27317422 chr7:27317412-27317423
40	MAFK	chr7:27315873-27315923	HepG2	liver:	n/a	n/a
41	MAFK	chr7:27327887-27328007	HepG2	liver:	n/a	chr7:27327978-27327989
42	MAX	chr7:27317177-27317613	MCF-7	breast:	n/a	n/a
43	MAX	chr7:27317530-27317696	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr7:27317400-27317402	Hela-S3	cervix:	n/a	n/a
45	MYC	chr7:27317287-27317487	MCF-7	breast:	n/a	n/a
46	MYC	chr7:27317301-27317409	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr7:27317289-27317478	MCF-7	breast:	n/a	n/a
48	MYC	chr7:27317286-27317511	MCF10A-Er-Src	breast:	n/a	n/a
49	NFYA	chr7:27320249-27320349	GM12878	blood:	n/a	n/a
50	NR2F2	chr7:27317118-27317746	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:27313975..27315801-chr7:27315935..27318265,2	MCF-7	breast:
2	chr7:27313975..27315801-chr7:27315935..27318265,2	MCF-7	breast:
3	chr7:27299141..27301733-chr7:27317244..27319586,2	MCF-7	breast:
4	chr7:27315462..27318205-chr7:27377732..27379317,2	MCF-7	breast:
5	chr7:27316693..27318210-chr7:27338825..27341072,2	MCF-7	breast:
6	7:27238414-27242313..7:27310353-27313425	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-16	chr7:27313945-27314131	NONHSAT119728
2	lnc-EVX1-16	chr7:27319649-27319768	NONHSAT119728

Variant related genes	Relation type
RPL35P4	TF binding region
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs574519055	chr7:27312347-27312348	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs552466845	chr7:27312357-27312358	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570824580	chr7:27312411-27312412	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs538252558	chr7:27312445-27312446	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201703434	chr7:27312490-27312491	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs398047548	chr7:27312491-27312492	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs568562396	chr7:27312494-27312495	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs70994639	chr7:27312495-27312496	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs535981884	chr7:27312547-27312548	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369784521	chr7:27312564-27312565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554056097	chr7:27312569-27312570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572627040	chr7:27312608-27312609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17502093	chr7:27312609-27312610	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17473256	chr7:27312628-27312629	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs17473263	chr7:27312630-27312631	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs17473270	chr7:27312672-27312673	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540204280	chr7:27312714-27312715	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558048042	chr7:27312715-27312716	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150378092	chr7:27312725-27312726	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532600320	chr7:27312761-27312762	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562192798	chr7:27312762-27312763	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113050966	chr7:27312806-27312807	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78912522	chr7:27312820-27312821	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529744912	chr7:27312841-27312842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541943581	chr7:27312853-27312854	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560060869	chr7:27312894-27312895	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552091667	chr7:27312942-27312943	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35236957	chr7:27312951-27312952	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs397936135	chr7:27312962-27312963	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527495063	chr7:27313030-27313031	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552459465	chr7:27313044-27313045	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191424457	chr7:27313052-27313053	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200910786	chr7:27313119-27313120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531682059	chr7:27313120-27313121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs62456382	chr7:27313137-27313138	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371505894	chr7:27313229-27313230	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs115527960	chr7:27313242-27313243	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568499325	chr7:27313264-27313265	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184325492	chr7:27313278-27313279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372851535	chr7:27313313-27313314	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543342928	chr7:27313371-27313372	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34014938	chr7:27313381-27313382	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531527938	chr7:27313388-27313389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187195767	chr7:27313399-27313400	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566108241	chr7:27313414-27313415	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550125952	chr7:27313978-27313979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs374767797	chr7:27313984-27313985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184619213	chr7:27314022-27314023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188336105	chr7:27314113-27314114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs533792683	chr7:27314120-27314121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27316400-27316800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr7:27316400-27318200	Enhancers	Stomach Mucosa	stomach
3	chr7:27316400-27318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:27316600-27317600	Enhancers	HepG2	liver
5	chr7:27316800-27317800	Enhancers	A549	lung
6	chr7:27317000-27317200	Enhancers	Hela-S3	cervix
7	chr7:27317200-27317400	Enhancers	Osteobl	bone
8	chr7:27317200-27317600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:27317200-27317600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:27317200-27317600	Enhancers	Adipose Nuclei	Adipose
11	chr7:27317200-27317600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:27317200-27317600	Flanking Active TSS	Hela-S3	cervix
13	chr7:27317200-27317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:27317200-27317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:27317200-27317800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:27317200-27317800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:27317200-27317800	Enhancers	HMEC	breast
18	chr7:27317200-27317800	Enhancers	NHEK	skin
19	chr7:27317400-27317800	Enhancers	Liver	Liver
20	chr7:27317600-27317800	Enhancers	Hela-S3	cervix
21	chr7:27318200-27319800	Weak transcription	Stomach Mucosa	stomach
22	chr7:27319800-27320000	Enhancers	Stomach Mucosa	stomach
23	chr7:27335000-27335400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:27335000-27335400	Enhancers	Pancreas	Pancrea
25	chr7:27335000-27335400	Enhancers	Stomach Mucosa	stomach
26	chr7:27335200-27335400	Enhancers	Fetal Kidney	kidney

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