Variant report

Variant	nsv834777
Chromosome Location	chr3:102467438-102634450
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	CCNT2	chr3:102592280-102592455	K562	blood:	n/a	n/a
2	CEBPB	chr3:102475622-102475965	H1-hESC	embryonic stem cell:	n/a	chr3:102475781-102475792
3	CEBPB	chr3:102546985-102547314	IMR90	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
4	CEBPB	chr3:102580890-102581090	A549	lung:	n/a	n/a
5	CEBPB	chr3:102615769-102615969	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr3:102491824-102492038	A549	lung:	n/a	n/a
7	CEBPB	chr3:102615745-102616028	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:102476791-102477082	Hela-S3	cervix:	n/a	chr3:102476939-102476950
9	CEBPB	chr3:102475613-102475945	Hela-S3	cervix:	n/a	chr3:102475781-102475792
10	CEBPB	chr3:102570426-102570698	A549	lung:	n/a	chr3:102570542-102570553
11	CEBPB	chr3:102476691-102477111	A549	lung:	n/a	chr3:102476939-102476950
12	CEBPB	chr3:102475598-102475934	IMR90	lung:	n/a	chr3:102475781-102475792
13	CEBPB	chr3:102614513-102614802	HepG2	liver:	n/a	chr3:102614668-102614681 chr3:102614669-102614680
14	CEBPB	chr3:102475608-102475964	HepG2	liver:	n/a	chr3:102475781-102475792
15	CEBPB	chr3:102523312-102523449	A549	lung:	n/a	n/a
16	CEBPB	chr3:102476762-102477185	HepG2	liver:	n/a	chr3:102476939-102476950
17	CEBPB	chr3:102506368-102506401	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr3:102546992-102547331	HepG2	liver:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
19	CEBPB	chr3:102476803-102477037	H1-hESC	embryonic stem cell:	n/a	chr3:102476939-102476950
20	CEBPB	chr3:102509685-102509952	IMR90	lung:	n/a	n/a
21	CEBPB	chr3:102506169-102506329	A549	lung:	n/a	n/a
22	CEBPB	chr3:102570456-102570693	HepG2	liver:	n/a	chr3:102570542-102570553
23	CEBPB	chr3:102546996-102547302	Hela-S3	cervix:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
24	CEBPB	chr3:102475636-102475943	A549	lung:	n/a	chr3:102475781-102475792
25	CEBPB	chr3:102604626-102604906	HepG2	liver:	n/a	chr3:102604766-102604777
26	CEBPB	chr3:102506236-102506316	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr3:102570410-102570681	Hela-S3	cervix:	n/a	chr3:102570542-102570553
28	CEBPB	chr3:102580907-102581127	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:102476759-102477129	IMR90	lung:	n/a	chr3:102476939-102476950
30	CEBPB	chr3:102546983-102547284	A549	lung:	n/a	chr3:102547136-102547147 chr3:102547150-102547161
31	CTCF	chr3:102548780-102548930	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr3:102556715-102556732	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr3:102574726-102574799	GM10248	blood:	n/a	n/a
34	CTCF	chr3:102555080-102555230	GM12866	blood:	n/a	n/a
35	CTCF	chr3:102583424-102583502	Lung_OC	lung:	n/a	n/a
36	CTCF	chr3:102578660-102578810	GM12874	blood:	n/a	n/a
37	CTCF	chr3:102490973-102491027	GM10248	blood:	n/a	n/a
38	CTCF	chr3:102557101-102557122	GM10266	blood:	n/a	n/a
39	CTCF	chr3:102578742-102578808	GM10248	blood:	n/a	n/a
40	CTCF	chr3:102578756-102578821	HepG2	liver:	n/a	n/a
41	CTCF	chr3:102578770-102578774	Medullo	brain:	n/a	n/a
42	CTCF	chr3:102578762-102578812	GM12878	blood:	n/a	n/a
43	CTCF	chr3:102574704-102574809	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr3:102583620-102583770	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr3:102578864-102578889	GM10266	blood:	n/a	n/a
46	CTCF	chr3:102578747-102578806	GM13977	blood:	n/a	n/a
47	CTCF	chr3:102578713-102578780	GM13976	blood:	n/a	n/a
48	CTCF	chr3:102548820-102548970	HCT-116	colon:	n/a	n/a
49	CTCF	chr3:102578720-102578870	HEK293	kidney:	n/a	n/a
50	CTCF	chr3:102578759-102578777	GM10266	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
2	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
3	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
4	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
5	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
6	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
7	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
8	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-461P	TF binding region

Extended variants
information (count: 1331 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558503952	chr3:102467462-102467463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149689533	chr3:102467472-102467473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566165168	chr3:102467492-102467493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536670233	chr3:102467509-102467510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114822929	chr3:102467513-102467514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576469649	chr3:102467592-102467593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145914428	chr3:102467607-102467608	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537757076	chr3:102467678-102467679	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76554708	chr3:102467713-102467714	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577806841	chr3:102467715-102467716	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545178693	chr3:102467721-102467722	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544340174	chr3:102467724-102467725	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375903512	chr3:102467727-102467728	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559849448	chr3:102467804-102467805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190430806	chr3:102467827-102467828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576961171	chr3:102467844-102467845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114569612	chr3:102467860-102467861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560561878	chr3:102467862-102467863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17831612	chr3:102467863-102467864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182595368	chr3:102467940-102467941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565565452	chr3:102467946-102467947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532633238	chr3:102467955-102467956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547951435	chr3:102467988-102467989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146682231	chr3:102467989-102467990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536756779	chr3:102467998-102467999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548658860	chr3:102467999-102468000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570067910	chr3:102468070-102468071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535574248	chr3:102468083-102468084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9883402	chr3:102468142-102468143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545674303	chr3:102468174-102468175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1391428	chr3:102468179-102468180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113281351	chr3:102468206-102468207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538529934	chr3:102468282-102468283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190641712	chr3:102468296-102468297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184123220	chr3:102468337-102468338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542318152	chr3:102468365-102468366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377064495	chr3:102468427-102468428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574106570	chr3:102468447-102468448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140302016	chr3:102468560-102468561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3942958	chr3:102468603-102468604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188582922	chr3:102468607-102468608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199901301	chr3:102468632-102468633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561776868	chr3:102468640-102468641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193160881	chr3:102468641-102468642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184467236	chr3:102468656-102468657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115556048	chr3:102468787-102468788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541708884	chr3:102468789-102468790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368196301	chr3:102468826-102468827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145417623	chr3:102468846-102468847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369598257	chr3:102468964-102468965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102464800-102467800	Weak transcription	Fetal Lung	lung
2	chr3:102466400-102471000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:102466600-102467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:102466600-102470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:102467200-102468600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:102467400-102469400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:102467600-102467800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:102467600-102469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:102467800-102468000	Enhancers	Fetal Lung	lung
10	chr3:102468000-102470400	Weak transcription	Fetal Lung	lung
11	chr3:102468400-102469000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:102468600-102469000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:102468600-102469200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:102468600-102471200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:102468800-102470000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:102469000-102470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:102469400-102470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:102469400-102470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:102470000-102471000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:102470400-102470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:102470400-102471400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:102470800-102471200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:102471000-102471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:102471000-102471200	Enhancers	Fetal Lung	lung
25	chr3:102475200-102477400	Enhancers	Liver	Liver
26	chr3:102483000-102483400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr3:102483000-102483600	Enhancers	Stomach Mucosa	stomach
28	chr3:102492400-102492800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:102492800-102493400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:102493400-102493600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:102507400-102509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:102507600-102508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:102508000-102509800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:102508200-102508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:102508200-102508600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:102508200-102508600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:102508200-102508600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:102508400-102512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:102508400-102518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:102508600-102509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:102509000-102511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:102509400-102510000	Enhancers	NH-A	brain
43	chr3:102509600-102510000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:102509800-102511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:102510000-102511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:102510000-102511000	Weak transcription	NH-A	brain
47	chr3:102510000-102511200	Enhancers	NHDF-Ad	bronchial
48	chr3:102510400-102511400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:102510400-102511600	Enhancers	Fetal Lung	lung
50	chr3:102510800-102511400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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