Variant report

Variant	nsv460765
Chromosome Location	chr3:94837728-94904714
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	chr3:94867079-94867278	GM12878	blood:	n/a	chr3:94867158-94867169
2	BHLHE40	chr3:94839934-94840050	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:94873555-94874070	MCF-7	breast:	n/a	n/a
4	CEBPB	chr3:94858964-94859274	IMR90	lung:	n/a	n/a
5	CEBPB	chr3:94880997-94881305	HepG2	liver:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
6	CEBPB	chr3:94853123-94853162	H1-hESC	embryonic stem cell:	n/a	chr3:94853151-94853162
7	CEBPB	chr3:94859027-94859271	HepG2	liver:	n/a	n/a
8	CEBPB	chr3:94880952-94881302	A549	lung:	n/a	chr3:94881115-94881128 chr3:94881115-94881128 chr3:94881117-94881126 chr3:94881116-94881127 chr3:94881115-94881128 chr3:94881115-94881126
9	CEBPB	chr3:94865345-94865624	Hela-S3	cervix:	n/a	chr3:94865483-94865496
10	CEBPB	chr3:94852969-94853281	HepG2	liver:	n/a	chr3:94853151-94853162
11	CEBPB	chr3:94852972-94853285	A549	lung:	n/a	chr3:94853151-94853162
12	CEBPB	chr3:94873659-94874133	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:94852969-94853285	Hela-S3	cervix:	n/a	chr3:94853151-94853162
14	CEBPB	chr3:94873551-94874188	MCF-7	breast:	n/a	n/a
15	CEBPB	chr3:94849900-94850155	HepG2	liver:	n/a	n/a
16	CTCF	chr3:94853720-94853870	HRE	kidney:	n/a	n/a
17	CTCF	chr3:94902980-94903130	HepG2	liver:	n/a	n/a
18	CTCF	chr3:94891040-94891190	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr3:94902940-94903090	Caco-2	colon:	n/a	n/a
20	CTCF	chr3:94891000-94891150	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:94902969-94903136	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:94902951-94903127	Gliobla	brain:	n/a	n/a
23	CTCF	chr3:94902939-94903113	HepG2	liver:	n/a	n/a
24	CTCF	chr3:94902900-94903050	GM12872	blood:	n/a	n/a
25	CTCF	chr3:94901413-94901515	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr3:94890940-94891090	BE2_C	brain:	n/a	n/a
27	CTCF	chr3:94853640-94853790	AG04449	skin:	n/a	n/a
28	CTCF	chr3:94902957-94903127	K562	blood:	n/a	n/a
29	CTCF	chr3:94902980-94903130	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr3:94902900-94903050	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:94853700-94853850	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr3:94900820-94900858	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr3:94853560-94853710	A549	lung:	n/a	n/a
34	CTCF	chr3:94902900-94903050	A549	lung:	n/a	n/a
35	CTCF	chr3:94903002-94903066	A549	lung:	n/a	n/a
36	CTCF	chr3:94853640-94853790	HEK293	kidney:	n/a	n/a
37	CTCF	chr3:94891020-94891170	HRE	kidney:	n/a	n/a
38	CTCF	chr3:94902966-94903154	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:94903031-94903125	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr3:94853660-94853810	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr3:94901753-94901799	GM20000	blood:	n/a	n/a
42	CTCF	chr3:94902919-94903180	K562	blood:	n/a	n/a
43	CTCF	chr3:94891049-94891134	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:94855260-94855410	HEK293	kidney:	n/a	n/a
45	CTCF	chr3:94902945-94903131	HepG2	liver:	n/a	n/a
46	CTCF	chr3:94891140-94891290	RPTEC	kidney:	n/a	n/a
47	CTCF	chr3:94870776-94870809	GM13976	blood:	n/a	n/a
48	CTCF	chr3:94902994-94903102	GM12892	blood:	n/a	n/a
49	CTCF	chr3:94891080-94891230	RPTEC	kidney:	n/a	n/a
50	CTCF	chr3:94902900-94903050	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:
2	chr3:94852529..94855191-chr3:94858249..94861078,2	MCF-7	breast:
3	chr3:94840742..94842445-chr3:94846541..94849507,2	K562	blood:
4	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
5	chr3:94852529..94855191-chr3:94858249..94861078,2	MCF-7	breast:
6	chr3:94817300..94819086-chr3:94851388..94853327,2	K562	blood:
7	chr3:94881976..94883745-chr3:94887711..94889312,2	K562	blood:
8	chr3:94877501..94880060-chr3:94881740..94883902,2	MCF-7	breast:
9	chr3:94840742..94842445-chr3:94846541..94849507,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN3-1	chr3:94870874-94871353	ENSG00000239589
2	lnc-NSUN3-1	chr3:94857070-94857159	ENSG00000239589
3	lnc-NSUN3-1	chr3:94890764-94891221	NONHSAT090744
4	lnc-NSUN3-1	chr3:94857030-94857161	NONHSAT090743

Variant related genes	Relation type
RPS18P6	TF binding region

Extended variants
information (count: 1228 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533402250	chr3:94839639-94839640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201719882	chr3:94839672-94839673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549972518	chr3:94839675-94839676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569968946	chr3:94839676-94839677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527731274	chr3:94839702-94839703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7628826	chr3:94839708-94839709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117812038	chr3:94839715-94839716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111631421	chr3:94839717-94839718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530362015	chr3:94839744-94839745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7621233	chr3:94839764-94839765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138583367	chr3:94839806-94839807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35385002	chr3:94839842-94839843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570614315	chr3:94839911-94839912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539216321	chr3:94839998-94839999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556393758	chr3:94840032-94840033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376213350	chr3:94840045-94840046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576375000	chr3:94840168-94840169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531756467	chr3:94840204-94840205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555385956	chr3:94840244-94840245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145535652	chr3:94840268-94840269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183130060	chr3:94840270-94840271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571537261	chr3:94840276-94840277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563985278	chr3:94840284-94840285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187848732	chr3:94840308-94840309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532850823	chr3:94840313-94840314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563558396	chr3:94840437-94840438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3849439	chr3:94840443-94840444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549296010	chr3:94840445-94840446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566337404	chr3:94840456-94840457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9827499	chr3:94840458-94840459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528515421	chr3:94840485-94840486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548963693	chr3:94840498-94840499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370102284	chr3:94840511-94840512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138095567	chr3:94840520-94840521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190855325	chr3:94840532-94840533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3897905	chr3:94840545-94840546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569899441	chr3:94840602-94840603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3843866	chr3:94840605-94840606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555744608	chr3:94840606-94840607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577945199	chr3:94840704-94840705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78368426	chr3:94840734-94840735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368842708	chr3:94840744-94840745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541233569	chr3:94840768-94840769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371920641	chr3:94840811-94840812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557757747	chr3:94840839-94840840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9790095	chr3:94840854-94840855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182615075	chr3:94840883-94840884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563522033	chr3:94840925-94840926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368403515	chr3:94840929-94840930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573945295	chr3:94840938-94840939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94839600-94840600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:94839800-94840200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:94839800-94840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:94839800-94840600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:94839800-94840600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:94840200-94855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:94840400-94842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:94840600-94843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:94840600-94844000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:94842200-94842400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:94842400-94843000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:94842800-94844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:94843000-94844000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:94843400-94843600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:94844000-94844200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:94844000-94845800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:94844000-94845800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:94844200-94845800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:94845800-94846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:94845800-94846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:94845800-94846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:94846200-94849600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:94846800-94847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:94847800-94848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:94849600-94850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:94850600-94853600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:94851800-94852000	Enhancers	Colon Smooth Muscle	Colon
28	chr3:94853000-94854600	Enhancers	Fetal Heart	heart
29	chr3:94853600-94854600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:94853800-94854200	Enhancers	Colon Smooth Muscle	Colon
31	chr3:94853800-94854400	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:94853800-94854600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:94854000-94854400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:94854000-94855000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr3:94855200-94855400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:94863400-94863600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:94863600-94864600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:94864400-94865200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:94864400-94865400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:94864600-94865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:94864600-94865200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:94864600-94865200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:94864600-94865400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:94865000-94865200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:94865200-94870400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:94865200-94870400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:94865200-94870400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:94865400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:94870200-94870600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:94870200-94871000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links