Variant report

Variant	nsv3941
Chromosome Location	chr3:110385790-110430523
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	BRCA1	chr3:110404988-110405130	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:110407098-110407548	A549	lung:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
3	CEBPB	chr3:110408953-110409270	HepG2	liver:	n/a	chr3:110409116-110409127
4	CEBPB	chr3:110416854-110417173	A549	lung:	n/a	n/a
5	CEBPB	chr3:110430236-110430519	HepG2	liver:	n/a	chr3:110430384-110430395 chr3:110430385-110430396 chr3:110430384-110430397
6	CEBPB	chr3:110430220-110430532	H1-hESC	embryonic stem cell:	n/a	chr3:110430384-110430395 chr3:110430385-110430396 chr3:110430384-110430397
7	CEBPB	chr3:110406014-110406326	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr3:110407060-110407593	K562	blood:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
9	CEBPB	chr3:110408978-110409297	A549	lung:	n/a	chr3:110409116-110409127
10	CEBPB	chr3:110413303-110413526	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:110407027-110407645	IMR90	lung:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
12	CEBPB	chr3:110408965-110409256	IMR90	lung:	n/a	chr3:110409116-110409127
13	CEBPB	chr3:110416808-110417147	IMR90	lung:	n/a	n/a
14	CEBPB	chr3:110407081-110407403	Hela-S3	cervix:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
15	CEBPB	chr3:110407043-110407286	H1-hESC	embryonic stem cell:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
16	CEBPB	chr3:110430363-110430404	K562	blood:	n/a	chr3:110430384-110430395 chr3:110430385-110430396 chr3:110430384-110430397
17	CEBPB	chr3:110407037-110407614	HepG2	liver:	n/a	chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407209-110407218 chr3:110407207-110407220
18	CTCF	chr3:110422864-110422899	Lung_OC	lung:	n/a	n/a
19	CTCF	chr3:110399680-110399830	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr3:110399700-110399850	HMF	breast:	n/a	n/a
21	CTCF	chr3:110399700-110399850	HAc	cerebellar:	n/a	n/a
22	CTCF	chr3:110399760-110399910	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr3:110399700-110399850	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr3:110399763-110399801	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:110399720-110399870	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr3:110399680-110399830	HPF	lung:	n/a	n/a
27	CTCF	chr3:110399838-110399843	ProgFib	skin:	n/a	n/a
28	CTCF	chr3:110399700-110399850	AG04450	lung:	n/a	n/a
29	CTCF	chr3:110396055-110396137	GM13976	blood:	n/a	n/a
30	CTCF	chr3:110399700-110399850	HCFaa	heart:	n/a	n/a
31	CTCF	chr3:110399700-110399850	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr3:110399708-110399840	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr3:110399740-110399890	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr3:110399720-110399870	AG10803	skin:	n/a	n/a
35	CTCF	chr3:110399720-110399870	HepG2	liver:	n/a	n/a
36	CTCF	chr3:110399620-110399770	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr3:110399771-110399802	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:110399600-110399750	A549	lung:	n/a	n/a
39	CTCF	chr3:110399780-110399930	HCM	heart:	n/a	n/a
40	CTCF	chr3:110399620-110399770	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr3:110399760-110399910	GM12864	blood:	n/a	n/a
42	CTCF	chr3:110399680-110399830	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:110399680-110399830	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr3:110399640-110399790	HCT-116	colon:	n/a	n/a
45	CTCF	chr3:110399820-110399970	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:110399640-110399790	AG09309	skin:	n/a	n/a
47	CTCF	chr3:110399700-110399850	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr3:110399720-110399870	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr3:110399660-110399810	BE2_C	brain:	n/a	n/a
50	CTCF	chr3:110399700-110399850	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110405694..110407709-chr3:110411526..110413966,2	K562	blood:
2	chr3:110405694..110407709-chr3:110411526..110413966,2	K562	blood:

Variant related genes	Relation type
ENSG00000244722	TF binding region

Extended variants
information (count: 1204 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1204 , 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	rs561126983	chr3:110385843-110385844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560621756	chr3:110385961-110385962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574325396	chr3:110386008-110386009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13062747	chr3:110386034-110386035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532513777	chr3:110386067-110386068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562630642	chr3:110386087-110386088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531190730	chr3:110386102-110386103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118005455	chr3:110386121-110386122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192532926	chr3:110386139-110386140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139404445	chr3:110386163-110386164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543623892	chr3:110386172-110386173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72944943	chr3:110386183-110386184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567118331	chr3:110386188-110386189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184842614	chr3:110386239-110386240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549189983	chr3:110386247-110386248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188920355	chr3:110386250-110386251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112894525	chr3:110386264-110386265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565211401	chr3:110386265-110386266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532699345	chr3:110386268-110386269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75506832	chr3:110386303-110386304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571672105	chr3:110386309-110386310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534453925	chr3:110386355-110386356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559527437	chr3:110386434-110386435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554551093	chr3:110386461-110386462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543130672	chr3:110386471-110386472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4431139	chr3:110386556-110386557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182097344	chr3:110386560-110386561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78460820	chr3:110386640-110386641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576057814	chr3:110386645-110386646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112824569	chr3:110386660-110386661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548788851	chr3:110386668-110386669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4267670	chr3:110386718-110386719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540926320	chr3:110386719-110386720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560878310	chr3:110386726-110386727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529826548	chr3:110386739-110386740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537205589	chr3:110386740-110386741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549914288	chr3:110386754-110386755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74719678	chr3:110386762-110386763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531784055	chr3:110386776-110386777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550682362	chr3:110386803-110386804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571664071	chr3:110386813-110386814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112393440	chr3:110386922-110386923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554489421	chr3:110386969-110386970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4298069	chr3:110386993-110386994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536564139	chr3:110387013-110387014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186299264	chr3:110387023-110387024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62270124	chr3:110387041-110387042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144123605	chr3:110387091-110387092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558281008	chr3:110387132-110387133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146005326	chr3:110387145-110387146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110381800-110389200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110383200-110385800	Enhancers	Stomach Mucosa	stomach
3	chr3:110384200-110389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:110384400-110389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:110385000-110386200	Enhancers	Fetal Intestine Large	intestine
6	chr3:110385200-110386200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:110385200-110386200	Enhancers	Pancreas	Pancrea
8	chr3:110385200-110386400	Enhancers	Fetal Intestine Small	intestine
9	chr3:110385200-110386400	Enhancers	Lung	lung
10	chr3:110385800-110386000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:110385800-110386000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:110386000-110386200	Enhancers	Gastric	stomach
13	chr3:110386000-110388600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:110388400-110390400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr3:110388600-110390200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr3:110389200-110390000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:110389400-110389800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:110389400-110390000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:110389400-110390000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:110389600-110390000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:110391000-110391200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:110391200-110398000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:110391400-110398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:110396400-110397000	Enhancers	Fetal Lung	lung
25	chr3:110396600-110396800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:110397000-110398200	Weak transcription	Fetal Lung	lung
27	chr3:110397000-110402600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:110398000-110398400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:110398000-110398400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:110398200-110398400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:110398200-110398600	Enhancers	Fetal Lung	lung
32	chr3:110398400-110402600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:110398400-110402800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:110398400-110404600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:110398600-110400000	Enhancers	Fetal Brain Male	brain
36	chr3:110398600-110403000	Weak transcription	Fetal Lung	lung
37	chr3:110399800-110400000	Enhancers	Gastric	stomach
38	chr3:110400000-110404600	Weak transcription	Fetal Brain Male	brain
39	chr3:110400400-110400600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:110400400-110401000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:110400600-110400800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:110400800-110402400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:110401000-110402800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:110402400-110406800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:110402600-110402800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:110402600-110403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:110402600-110403400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr3:110402600-110403600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:110402600-110403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:110402600-110404000	Enhancers	H9 Cell Line	embryonic stem cell

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