Variant report

Variant	nsv888510
Chromosome Location	chr7:78742376-78865618
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	ARID3A	chr7:78841102-78841331	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:78762229-78762644	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:78846821-78847639	HepG2	liver:	n/a	n/a
4	ATF2	chr7:78811739-78812017	GM12878	blood:	n/a	n/a
5	BACH1	chr7:78854500-78854508	K562	blood:	n/a	n/a
6	BATF	chr7:78829434-78829686	GM12878	blood:	n/a	chr7:78829545-78829556
7	BATF	chr7:78786666-78786840	GM12878	blood:	n/a	chr7:78786772-78786783
8	BHLHE40	chr7:78760331-78760351	K562	blood:	n/a	n/a
9	CEBPB	chr7:78841072-78841435	A549	lung:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
10	CEBPB	chr7:78853481-78853796	A549	lung:	n/a	chr7:78853640-78853653 chr7:78853641-78853652 chr7:78853640-78853653
11	CEBPB	chr7:78846817-78847247	A549	lung:	n/a	n/a
12	CEBPB	chr7:78829526-78830144	IMR90	lung:	n/a	n/a
13	CEBPB	chr7:78742297-78742596	IMR90	lung:	n/a	n/a
14	CEBPB	chr7:78795795-78796005	HepG2	liver:	n/a	chr7:78795855-78795866
15	CEBPB	chr7:78838557-78838831	IMR90	lung:	n/a	chr7:78838703-78838714
16	CEBPB	chr7:78846921-78847155	A549	lung:	n/a	n/a
17	CEBPB	chr7:78846854-78847212	IMR90	lung:	n/a	n/a
18	CEBPB	chr7:78841048-78841478	HepG2	liver:	n/a	chr7:78841057-78841068 chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
19	CEBPB	chr7:78841060-78841411	MCF-7	breast:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
20	CEBPB	chr7:78846874-78847197	HepG2	liver:	n/a	n/a
21	CEBPB	chr7:78762121-78762404	IMR90	lung:	n/a	n/a
22	CEBPB	chr7:78779268-78779306	HepG2	liver:	n/a	n/a
23	CEBPB	chr7:78795756-78796013	IMR90	lung:	n/a	chr7:78795855-78795866
24	CEBPB	chr7:78742365-78742521	A549	lung:	n/a	n/a
25	CEBPB	chr7:78853519-78853831	H1-hESC	embryonic stem cell:	n/a	chr7:78853640-78853653 chr7:78853641-78853652 chr7:78853640-78853653
26	CEBPB	chr7:78841090-78841355	HepG2	liver:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
27	CEBPB	chr7:78841049-78841387	HepG2	liver:	n/a	chr7:78841057-78841068 chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
28	CEBPB	chr7:78841024-78841539	A549	lung:	n/a	chr7:78841057-78841068 chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
29	CEBPB	chr7:78838554-78838756	HepG2	liver:	n/a	chr7:78838703-78838714
30	CEBPB	chr7:78841076-78841404	HepG2	liver:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
31	CEBPB	chr7:78841068-78841463	Hela-S3	cervix:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
32	CEBPB	chr7:78749262-78749574	IMR90	lung:	n/a	chr7:78749420-78749431
33	CEBPB	chr7:78853490-78853816	IMR90	lung:	n/a	chr7:78853640-78853653 chr7:78853641-78853652 chr7:78853640-78853653
34	CEBPB	chr7:78841085-78841453	IMR90	lung:	n/a	chr7:78841270-78841281 chr7:78841268-78841281 chr7:78841268-78841279 chr7:78841268-78841281 chr7:78841265-78841282 chr7:78841270-78841281
35	CEBPB	chr7:78749308-78749532	HepG2	liver:	n/a	chr7:78749420-78749431
36	CEBPB	chr7:78828383-78829263	IMR90	lung:	n/a	n/a
37	CEBPB	chr7:78865598-78865900	A549	lung:	n/a	chr7:78865743-78865754 chr7:78865741-78865752
38	CEBPB	chr7:78835322-78835560	IMR90	lung:	n/a	n/a
39	CEBPB	chr7:78838622-78838755	K562	blood:	n/a	chr7:78838703-78838714
40	CEBPB	chr7:78779117-78779451	IMR90	lung:	n/a	chr7:78779254-78779267 chr7:78779255-78779266
41	CEBPB	chr7:78846980-78847102	HepG2	liver:	n/a	n/a
42	CEBPB	chr7:78853504-78853727	HepG2	liver:	n/a	chr7:78853640-78853653 chr7:78853641-78853652 chr7:78853640-78853653
43	CEBPB	chr7:78760964-78760975	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr7:78795739-78796011	A549	lung:	n/a	chr7:78795855-78795866
45	CHD1	chr7:78806206-78806356	GM12878	blood:	n/a	n/a
46	CTCF	chr7:78806253-78806516	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr7:78806320-78806470	GM12872	blood:	n/a	n/a
48	CTCF	chr7:78806300-78806450	GM12864	blood:	n/a	n/a
49	CTCF	chr7:78767340-78767490	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr7:78767360-78767510	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:
2	chr7:78749811..78752141-chr7:78766151..78767665,2	MCF-7	breast:
3	chr7:78776964..78780681-chr7:78782955..78785203,3	K562	blood:
4	chr7:78749811..78752141-chr7:78766151..78767665,2	MCF-7	breast:
5	chr7:78776964..78780681-chr7:78782955..78785203,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAT3-8	chr7:78802389-78804340	NONHSAT121698
2	lnc-GNAI1-8	chr7:78754055-78755066	NONHSAT121697

Variant related genes	Relation type
ENSG00000229110	TF binding region

Extended variants
information (count: 3296 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3296 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2886053	chr7:78742376-78742377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538157481	chr7:78742420-78742421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558091986	chr7:78742479-78742480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113831237	chr7:78742565-78742566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540726286	chr7:78742572-78742573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193112679	chr7:78742584-78742585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573059985	chr7:78742600-78742601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542011529	chr7:78742604-78742605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561756634	chr7:78742609-78742610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373094522	chr7:78742667-78742668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559269281	chr7:78742676-78742677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544190076	chr7:78742694-78742695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117608647	chr7:78742772-78742773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532814396	chr7:78742779-78742780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569324423	chr7:78742783-78742784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79897497	chr7:78742800-78742801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140130161	chr7:78742819-78742820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370965898	chr7:78742820-78742821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74344138	chr7:78742898-78742899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538520199	chr7:78742913-78742914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188294331	chr7:78743006-78743007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143264373	chr7:78743009-78743010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116826170	chr7:78743047-78743048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191766580	chr7:78743070-78743071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151179356	chr7:78743071-78743072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184316783	chr7:78743085-78743086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566370109	chr7:78743088-78743089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111628963	chr7:78743123-78743124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373893998	chr7:78743126-78743127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377398988	chr7:78743127-78743128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181699611	chr7:78743144-78743145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3047688	chr7:78743153-78743154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544494980	chr7:78743168-78743169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140077822	chr7:78743171-78743172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533071412	chr7:78743211-78743212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539810843	chr7:78743218-78743219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149885557	chr7:78743222-78743223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528913428	chr7:78743282-78743283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76224302	chr7:78743306-78743307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563092011	chr7:78743318-78743319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185232515	chr7:78743355-78743356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370816087	chr7:78743403-78743404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373845297	chr7:78743443-78743444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552034760	chr7:78743474-78743475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571814134	chr7:78743535-78743536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117041892	chr7:78743548-78743549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547768421	chr7:78743551-78743552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567674045	chr7:78743593-78743594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144903794	chr7:78743629-78743630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556429622	chr7:78743698-78743699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Glioma	20126413	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78735200-78742400	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:78742200-78742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:78742400-78742600	Enhancers	Brain Hippocampus Middle	brain
4	chr7:78742400-78742800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:78742800-78743400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:78743400-78747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:78744400-78747800	Weak transcription	Fetal Kidney	kidney
8	chr7:78745800-78746000	Active TSS	Gastric	stomach
9	chr7:78746800-78748400	Enhancers	HUVEC	blood vessel
10	chr7:78747400-78748000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78747600-78748000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:78747800-78748000	Enhancers	Fetal Kidney	kidney
13	chr7:78747800-78748200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:78748000-78748600	Weak transcription	Fetal Kidney	kidney
15	chr7:78748000-78749200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:78748000-78749600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:78748400-78751400	Weak transcription	HUVEC	blood vessel
18	chr7:78748600-78748800	Enhancers	Fetal Lung	lung
19	chr7:78748600-78749600	Enhancers	Fetal Kidney	kidney
20	chr7:78749400-78749600	Enhancers	Fetal Lung	lung
21	chr7:78749600-78750400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:78751400-78751800	Enhancers	HUVEC	blood vessel
23	chr7:78753600-78754400	Enhancers	HepG2	liver
24	chr7:78761800-78762400	Enhancers	HepG2	liver
25	chr7:78767000-78767600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:78767200-78768000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:78767400-78767800	Enhancers	Osteobl	bone
28	chr7:78768800-78769400	Enhancers	Left Ventricle	heart
29	chr7:78768800-78769600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:78769600-78772000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:78770400-78772800	Enhancers	Fetal Heart	heart
32	chr7:78772000-78772200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:78772000-78772400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:78772000-78772400	Enhancers	Fetal Brain Male	brain
35	chr7:78772200-78772400	Enhancers	Left Ventricle	heart
36	chr7:78772200-78772600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:78772400-78772800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:78772600-78772800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:78772800-78773000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:78772800-78774800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:78773000-78782000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:78774200-78774400	Enhancers	NHDF-Ad	bronchial
43	chr7:78774200-78775000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:78774600-78775000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:78774800-78775000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:78775000-78775200	Enhancers	NHDF-Ad	bronchial
47	chr7:78775000-78775400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:78775000-78775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:78775000-78775400	Enhancers	Brain Hippocampus Middle	brain
50	chr7:78775000-78781400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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