Variant report

Variant	nsv1018756
Chromosome Location	chr7:67472370-67508145
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	BACH1	chr7:67480137-67480337	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:67503599-67503917	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:67503700-67503707	K562	blood:	n/a	n/a
4	BCL3	chr7:67503507-67504119	A549	lung:	n/a	n/a
5	CEBPB	chr7:67479165-67479241	K562	blood:	n/a	chr7:67479215-67479232 chr7:67479218-67479229
6	CEBPB	chr7:67503407-67504097	A549	lung:	n/a	n/a
7	CEBPB	chr7:67479085-67479339	H1-hESC	embryonic stem cell:	n/a	chr7:67479215-67479232 chr7:67479218-67479229
8	CEBPB	chr7:67504550-67504569	K562	blood:	n/a	n/a
9	CEBPB	chr7:67479112-67479312	IMR90	lung:	n/a	chr7:67479215-67479232 chr7:67479218-67479229
10	CEBPB	chr7:67503575-67504029	A549	lung:	n/a	n/a
11	CEBPB	chr7:67479146-67479336	HepG2	liver:	n/a	chr7:67479215-67479232 chr7:67479218-67479229
12	CTCF	chr7:67482048-67482081	GM13976	blood:	n/a	n/a
13	CTCF	chr7:67474374-67474418	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:67481780-67481930	HRE	kidney:	n/a	n/a
15	CTCF	chr7:67490920-67491070	GM12868	blood:	n/a	n/a
16	CUX1	chr7:67501947-67501949	K562	blood:	n/a	n/a
17	E2F4	chr7:67490189-67490563	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr7:67503648-67503906	HepG2	liver:	n/a	n/a
19	EP300	chr7:67504487-67504886	SK-N-SH_RA	brain:	n/a	chr7:67504676-67504690 chr7:67504684-67504698
20	EP300	chr7:67480499-67481062	A549	lung:	n/a	chr7:67480907-67480917 chr7:67480847-67480861 chr7:67480985-67480994
21	EP300	chr7:67503428-67504171	A549	lung:	n/a	chr7:67504065-67504075
22	EP300	chr7:67504499-67504862	SK-N-SH_RA	brain:	n/a	chr7:67504676-67504690 chr7:67504684-67504698
23	EP300	chr7:67480413-67481288	SK-N-SH_RA	brain:	n/a	chr7:67480907-67480917 chr7:67480847-67480861 chr7:67480985-67480994
24	EP300	chr7:67479944-67481467	SK-N-SH	brain:	n/a	chr7:67480907-67480917 chr7:67480847-67480861 chr7:67480985-67480994
25	EP300	chr7:67480341-67481336	SK-N-SH_RA	brain:	n/a	chr7:67480907-67480917 chr7:67480847-67480861 chr7:67480985-67480994
26	EP300	chr7:67503380-67504229	A549	lung:	n/a	chr7:67504065-67504075
27	FOSL2	chr7:67503270-67504298	A549	lung:	n/a	chr7:67503730-67503738 chr7:67503740-67503750 chr7:67503729-67503739
28	FOSL2	chr7:67503630-67503913	HepG2	liver:	n/a	chr7:67503730-67503738 chr7:67503740-67503750 chr7:67503729-67503739
29	FOSL2	chr7:67503531-67503960	MCF-7	breast:	n/a	chr7:67503730-67503738 chr7:67503740-67503750 chr7:67503729-67503739
30	FOSL2	chr7:67503512-67503952	A549	lung:	n/a	chr7:67503730-67503738 chr7:67503740-67503750 chr7:67503729-67503739
31	FOXA1	chr7:67503635-67503945	HepG2	liver:	n/a	n/a
32	FOXA1	chr7:67503608-67504100	HepG2	liver:	n/a	n/a
33	FOXA1	chr7:67503509-67504025	HepG2	liver:	n/a	n/a
34	FOXA1	chr7:67503630-67504012	HepG2	liver:	n/a	n/a
35	FOXA2	chr7:67480539-67480946	A549	lung:	n/a	n/a
36	FOXA2	chr7:67503649-67503970	HepG2	liver:	n/a	n/a
37	FOXA2	chr7:67480581-67480992	A549	lung:	n/a	n/a
38	FOXA2	chr7:67503488-67504111	A549	lung:	n/a	n/a
39	FOXA2	chr7:67503404-67504211	A549	lung:	n/a	n/a
40	FOXA2	chr7:67491092-67491507	A549	lung:	n/a	n/a
41	FOXA2	chr7:67503472-67504098	HepG2	liver:	n/a	n/a
42	GABPA	chr7:67503567-67503989	A549	lung:	n/a	n/a
43	GATA2	chr7:67496190-67496590	SH-SY5Y	brain:	n/a	chr7:67496394-67496415
44	GATA2	chr7:67480606-67480987	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:67496250-67496551	SH-SY5Y	brain:	n/a	chr7:67496394-67496415
46	GATA3	chr7:67503404-67504261	A549	lung:	n/a	n/a
47	GATA3	chr7:67503053-67503196	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:67491227-67491301	SH-SY5Y	brain:	n/a	chr7:67491256-67491272 chr7:67491256-67491272
49	GATA3	chr7:67480806-67480947	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr7:67480504-67481077	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:67481428..67483133-chr7:67494967..67497635,2	K562	blood:
2	chr7:67481428..67483133-chr7:67494967..67497635,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG3L4-2	chr7:67489483-67489552	NONHSAT121293
2	lnc-STAG3L4-2	chr7:67497578-67497677	NONHSAT121292
3	lnc-STAG3L4-2	chr7:67488599-67488647	XLOC_006139
4	lnc-STAG3L4-2	chr7:67497578-67497677	XLOC_006139
5	lnc-STAG3L4-2	chr7:67489483-67489552	NONHSAT121292
6	lnc-STAG3L4-2	chr7:67491130-67491203	NONHSAT121293
7	lnc-STAG3L4-2	chr7:67496551-67496679	NONHSAT121292
8	lnc-STAG3L4-2	chr7:67491130-67491203	XLOC_006139
9	lnc-STAG3L4-2	chr7:67488607-67488647	NONHSAT121292
10	lnc-STAG3L4-2	chr7:67489483-67489552	XLOC_006139
11	lnc-STAG3L4-2	chr7:67496551-67496679	XLOC_006139
12	lnc-STAG3L4-2	chr7:67491130-67491203	NONHSAT121292
13	lnc-STAG3L4-2	chr7:67496551-67496705	NONHSAT121293
14	lnc-STAG3L4-2	chr7:67488607-67488647	NONHSAT121293
15	lnc-STAG3L4-2	chr7:67485240-67485327	XLOC_006139

Variant related genes	Relation type
ENSG00000225209	TF binding region

Extended variants
information (count: 841 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538524645	chr7:67474401-67474402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558378086	chr7:67474402-67474403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184681572	chr7:67474415-67474416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537608888	chr7:67474416-67474417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557434017	chr7:67474425-67474426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34970171	chr7:67474427-67474428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73132530	chr7:67474430-67474431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377472089	chr7:67474436-67474437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573605311	chr7:67474438-67474439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545711461	chr7:67474460-67474461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565516236	chr7:67474464-67474465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531134461	chr7:67474474-67474475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34295996	chr7:67474539-67474540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189521102	chr7:67474546-67474547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529039804	chr7:67474617-67474618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140955327	chr7:67474670-67474671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566343613	chr7:67474690-67474691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538589389	chr7:67474750-67474751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28514639	chr7:67474757-67474758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549858969	chr7:67474788-67474789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78289423	chr7:67474796-67474797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537674590	chr7:67474804-67474805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554436751	chr7:67474869-67474870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141961619	chr7:67474889-67474890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574115099	chr7:67474896-67474897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536329087	chr7:67474910-67474911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553376409	chr7:67474932-67474933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532054501	chr7:67474943-67474944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573263175	chr7:67474961-67474962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563766020	chr7:67474983-67474984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60160468	chr7:67474989-67474990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565580798	chr7:67474990-67474991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144601009	chr7:67475003-67475004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565923528	chr7:67475013-67475014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535030075	chr7:67475026-67475027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113881192	chr7:67475033-67475034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529845578	chr7:67475077-67475078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548551786	chr7:67475124-67475125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372067775	chr7:67475143-67475144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148196882	chr7:67475156-67475157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537769507	chr7:67475157-67475158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57397215	chr7:67475165-67475166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531983865	chr7:67475200-67475201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4349877	chr7:67475201-67475202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114732731	chr7:67475227-67475228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141551003	chr7:67475238-67475239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534842401	chr7:67475250-67475251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5884673	chr7:67475251-67475252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548395721	chr7:67475261-67475262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186651383	chr7:67475322-67475323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67474400-67474800	Enhancers	Spleen	Spleen
2	chr7:67474400-67475200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:67474400-67475200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:67474400-67475200	Enhancers	NHEK	skin
5	chr7:67474600-67475200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:67474600-67475200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:67474600-67475200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:67474800-67479200	Weak transcription	Spleen	Spleen
9	chr7:67475200-67479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:67475200-67479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:67476800-67477000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr7:67476800-67477200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr7:67477000-67480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:67477200-67479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:67478000-67478200	Enhancers	Brain Germinal Matrix	brain
16	chr7:67478200-67479200	Weak transcription	Brain Germinal Matrix	brain
17	chr7:67478800-67479600	Enhancers	Fetal Brain Male	brain
18	chr7:67479000-67479600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:67479000-67479800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:67479000-67480000	Enhancers	Fetal Brain Female	brain
21	chr7:67479000-67480800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:67479000-67481000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:67479000-67481200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:67479200-67479400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:67479200-67479600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:67479200-67480400	Enhancers	Spleen	Spleen
27	chr7:67479200-67480600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:67479200-67482600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:67479200-67483000	Enhancers	Brain Germinal Matrix	brain
30	chr7:67479400-67480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:67479600-67480800	Weak transcription	Fetal Brain Male	brain
32	chr7:67479800-67480600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:67480000-67480400	Weak transcription	Fetal Brain Female	brain
34	chr7:67480200-67481200	Enhancers	Fetal Kidney	kidney
35	chr7:67480200-67481600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:67480400-67480600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:67480400-67480800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:67480400-67480800	Enhancers	Fetal Brain Female	brain
39	chr7:67480400-67481200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr7:67480400-67486600	Weak transcription	Spleen	Spleen
41	chr7:67480600-67480800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:67480600-67480800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:67480600-67480800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:67480600-67481200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr7:67480600-67481400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:67480600-67482000	Enhancers	A549	lung
47	chr7:67480800-67481000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr7:67480800-67481000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr7:67480800-67481200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:67480800-67481400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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