Variant report

Variant	nsv887846
Chromosome Location	chr7:25371700-25407621
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	chr7:25393526-25393693	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:25401591-25401793	IMR90	lung:	n/a	chr7:25401673-25401684 chr7:25401673-25401686 chr7:25401674-25401685
3	CEBPB	chr7:25401515-25401832	HepG2	liver:	n/a	chr7:25401673-25401684 chr7:25401673-25401686 chr7:25401674-25401685
4	CEBPB	chr7:25397860-25397891	A549	lung:	n/a	n/a
5	CEBPB	chr7:25401513-25401802	Hela-S3	cervix:	n/a	chr7:25401673-25401684 chr7:25401673-25401686 chr7:25401674-25401685
6	CEBPB	chr7:25379456-25379593	A549	lung:	n/a	n/a
7	CEBPB	chr7:25401514-25401814	A549	lung:	n/a	chr7:25401673-25401684 chr7:25401673-25401686 chr7:25401674-25401685
8	CTCF	chr7:25393563-25393700	GM12878	blood:	n/a	chr7:25393649-25393670 chr7:25393654-25393672
9	CTCF	chr7:25381768-25381835	GM10266	blood:	n/a	n/a
10	FOS	chr7:25401620-25401783	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr7:25389727-25389961	T-47D	breast:	n/a	n/a
12	FOXA1	chr7:25389747-25389962	T-47D	breast:	n/a	n/a
13	GATA2	chr7:25389344-25389496	SH-SY5Y	brain:	n/a	chr7:25389375-25389387
14	GATA2	chr7:25392826-25393163	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr7:25389738-25390107	T-47D	breast:	n/a	chr7:25389795-25389802
16	GATA3	chr7:25392892-25392913	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:25387215-25387276	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr7:25373911-25374131	SH-SY5Y	brain:	n/a	n/a
19	IRF3	chr7:25406659-25406729	GM12878	blood:	n/a	n/a
20	JUND	chr7:25387205-25387208	H1-hESC	embryonic stem cell:	n/a	n/a
21	KAP1	chr7:25399087-25399798	U2OS	brain:	n/a	n/a
22	MAFF	chr7:25387723-25387993	K562	blood:	n/a	chr7:25387869-25387887
23	MAFF	chr7:25388955-25389136	K562	blood:	n/a	n/a
24	MAFF	chr7:25387736-25388005	HepG2	liver:	n/a	chr7:25387869-25387887
25	MAFF	chr7:25373896-25374051	K562	blood:	n/a	n/a
26	MAFF	chr7:25373833-25374089	HepG2	liver:	n/a	n/a
27	MAFF	chr7:25378784-25379056	HepG2	liver:	n/a	chr7:25378930-25378944 chr7:25378931-25378949
28	MAFK	chr7:25387876-25387889	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr7:25387262-25387503	HepG2	liver:	n/a	chr7:25387384-25387399
30	MAFK	chr7:25387778-25387998	K562	blood:	n/a	chr7:25387872-25387892 chr7:25387871-25387887
31	MAFK	chr7:25387362-25387400	HepG2	liver:	n/a	chr7:25387384-25387399
32	MAFK	chr7:25401681-25401753	HepG2	liver:	n/a	chr7:25401722-25401738 chr7:25401720-25401740
33	MAFK	chr7:25373808-25374093	HepG2	liver:	n/a	n/a
34	MAFK	chr7:25407383-25407487	HepG2	liver:	n/a	n/a
35	MAFK	chr7:25388922-25389106	HepG2	liver:	n/a	n/a
36	MAFK	chr7:25387736-25388029	HepG2	liver:	n/a	chr7:25387872-25387892 chr7:25387871-25387887
37	MAFK	chr7:25387703-25388064	HepG2	liver:	n/a	chr7:25387872-25387892 chr7:25387871-25387887
38	MAFK	chr7:25387717-25388044	IMR90	lung:	n/a	chr7:25387872-25387892 chr7:25387871-25387887
39	MAFK	chr7:25389024-25389124	IMR90	lung:	n/a	n/a
40	MAFK	chr7:25378774-25378988	IMR90	lung:	n/a	chr7:25378936-25378947 chr7:25378932-25378947 chr7:25378935-25378949 chr7:25378937-25378948 chr7:25378927-25378947 chr7:25378930-25378944 chr7:25378936-25378947 chr7:25378937-25378948 chr7:25378932-25378948 chr7:25378929-25378945
41	MAFK	chr7:25378771-25379101	HepG2	liver:	n/a	chr7:25378936-25378947 chr7:25378932-25378947 chr7:25378935-25378949 chr7:25378937-25378948 chr7:25378927-25378947 chr7:25378930-25378944 chr7:25378936-25378947 chr7:25378937-25378948 chr7:25378932-25378948 chr7:25378929-25378945
42	MAFK	chr7:25373854-25374111	HepG2	liver:	n/a	n/a
43	MAFK	chr7:25378788-25379090	HepG2	liver:	n/a	chr7:25378936-25378947 chr7:25378932-25378947 chr7:25378935-25378949 chr7:25378937-25378948 chr7:25378927-25378947 chr7:25378930-25378944 chr7:25378936-25378947 chr7:25378937-25378948 chr7:25378932-25378948 chr7:25378929-25378945
44	MAFK	chr7:25401606-25401789	HepG2	liver:	n/a	chr7:25401722-25401738 chr7:25401720-25401740
45	MAFK	chr7:25387715-25387972	H1-hESC	embryonic stem cell:	n/a	chr7:25387872-25387892 chr7:25387871-25387887
46	MYC	chr7:25392985-25393032	MCF10A-Er-Src	breast:	n/a	n/a
47	NFYB	chr7:25392365-25392596	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:25398988-25399971	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr7:25392769-25393214	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr7:25398951-25399874	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25364997..25367518-chr7:25368459..25372666,3	K562	blood:
2	chr7:25372836..25375430-chr7:25381339..25383211,2	K562	blood:
3	chr7:25372836..25375430-chr7:25381339..25383211,2	K562	blood:
4	chr20:55833870..55836092-chr7:25404426..25407387,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-2	chr7:25397859-25399527	ENSG00000260951.1

Variant related genes	Relation type
ENSG00000260951	TF binding region
ENSG00000233824	chromatin interactions

Extended variants
information (count: 1459 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1459 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4722456	chr7:25371700-25371701	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544806243	chr7:25371743-25371744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560380713	chr7:25371788-25371789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192297072	chr7:25371797-25371798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554749767	chr7:25371815-25371816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112936036	chr7:25371862-25371863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375334663	chr7:25371890-25371891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184307895	chr7:25371897-25371898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115180091	chr7:25371942-25371943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189465880	chr7:25371986-25371987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540252671	chr7:25372005-25372006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560141822	chr7:25372009-25372010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573961996	chr7:25372037-25372038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542992128	chr7:25372045-25372046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116934976	chr7:25372049-25372050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386711418	chr7:25372066-25372067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4719807	chr7:25372068-25372069	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564990243	chr7:25372070-25372071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552500847	chr7:25372099-25372100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10665109	chr7:25372100-25372101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111402120	chr7:25372101-25372102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369549977	chr7:25372103-25372104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113161274	chr7:25372104-25372105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201129676	chr7:25372113-25372114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527355203	chr7:25372123-25372124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182014480	chr7:25372138-25372139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184570986	chr7:25372145-25372146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142734750	chr7:25372148-25372149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549807586	chr7:25372175-25372176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569890060	chr7:25372244-25372245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562653018	chr7:25372257-25372258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs57271880	chr7:25372280-25372281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369910428	chr7:25372317-25372318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138905761	chr7:25372334-25372335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534060564	chr7:25372335-25372336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563062012	chr7:25372336-25372337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142039064	chr7:25372340-25372341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144042560	chr7:25372346-25372347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531807855	chr7:25372392-25372393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542962790	chr7:25372406-25372407	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76626733	chr7:25372412-25372413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576643133	chr7:25372418-25372419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545642043	chr7:25372467-25372468	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189038296	chr7:25372491-25372492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527875669	chr7:25372516-25372517	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541171860	chr7:25372525-25372526	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117301557	chr7:25372527-25372528	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529664665	chr7:25372534-25372535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148654118	chr7:25372561-25372562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569872297	chr7:25372643-25372644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Prostate cancer	16573809	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
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25369600-25374400	Weak transcription	Pancreas	Pancrea
2	chr7:25372400-25373000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:25374400-25374600	Enhancers	Pancreas	Pancrea
4	chr7:25376800-25386800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:25378000-25378800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:25378800-25383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:25383000-25383400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:25383200-25384200	Enhancers	Fetal Heart	heart
9	chr7:25383400-25383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:25383800-25384000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:25384000-25387200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:25384200-25387000	Weak transcription	Fetal Heart	heart
13	chr7:25386200-25389600	Enhancers	Fetal Lung	lung
14	chr7:25386400-25390000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:25386600-25389600	Enhancers	Fetal Intestine Large	intestine
16	chr7:25386800-25387000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:25386800-25387400	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:25386800-25387400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:25386800-25387600	Enhancers	Stomach Mucosa	stomach
20	chr7:25386800-25389600	Enhancers	Fetal Intestine Small	intestine
21	chr7:25387000-25387400	Enhancers	Fetal Brain Male	brain
22	chr7:25387000-25388800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:25387000-25389000	Enhancers	Fetal Heart	heart
24	chr7:25387200-25387400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:25387200-25387400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:25387200-25387600	Enhancers	Fetal Kidney	kidney
27	chr7:25387200-25388000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:25387200-25388600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:25387200-25388600	Enhancers	Brain Germinal Matrix	brain
30	chr7:25387400-25387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:25387400-25388400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:25387400-25388400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:25387400-25388600	Enhancers	Fetal Brain Female	brain
34	chr7:25387600-25388000	Weak transcription	Fetal Kidney	kidney
35	chr7:25387600-25388000	Weak transcription	Stomach Mucosa	stomach
36	chr7:25387800-25388400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:25388000-25388200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:25388000-25388400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:25388000-25388600	Enhancers	Fetal Kidney	kidney
40	chr7:25388000-25389600	Enhancers	Stomach Mucosa	stomach
41	chr7:25388200-25389400	Enhancers	Small Intestine	intestine
42	chr7:25388400-25389400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:25388400-25389400	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:25388400-25389600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:25388600-25389400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr7:25388600-25389400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:25388600-25389600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:25388800-25389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:25389200-25390000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:25389400-25390200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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