Variant report

Variant	nsv878735
Chromosome Location	chr4:19810878-19933069
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	CEBPB	chr4:19896103-19896389	HepG2	liver:	n/a	chr4:19896244-19896255
2	CEBPB	chr4:19896101-19896417	IMR90	lung:	n/a	chr4:19896244-19896255
3	CEBPB	chr4:19896074-19896300	A549	lung:	n/a	chr4:19896244-19896255
4	CEBPB	chr4:19813832-19814087	IMR90	lung:	n/a	chr4:19813957-19813968 chr4:19813957-19813968 chr4:19813899-19813912
5	CEBPB	chr4:19843180-19843400	A549	lung:	n/a	chr4:19843221-19843232
6	CEBPB	chr4:19916368-19916576	K562	blood:	n/a	chr4:19916483-19916494 chr4:19916484-19916495
7	CEBPB	chr4:19885544-19885857	IMR90	lung:	n/a	n/a
8	CEBPB	chr4:19843110-19843405	HepG2	liver:	n/a	chr4:19843221-19843232
9	CEBPB	chr4:19916399-19916665	A549	lung:	n/a	chr4:19916483-19916494 chr4:19916484-19916495
10	CEBPB	chr4:19916369-19916579	H1-hESC	embryonic stem cell:	n/a	chr4:19916483-19916494 chr4:19916484-19916495
11	CEBPB	chr4:19916328-19916658	HepG2	liver:	n/a	chr4:19916483-19916494 chr4:19916484-19916495
12	CEBPB	chr4:19916304-19916655	IMR90	lung:	n/a	chr4:19916483-19916494 chr4:19916484-19916495
13	CTCF	chr4:19890380-19890530	GM12875	blood:	n/a	n/a
14	CTCF	chr4:19902040-19902190	HMF	breast:	n/a	n/a
15	CTCF	chr4:19852680-19852830	BJ	skin:	n/a	n/a
16	CTCF	chr4:19852620-19852770	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr4:19852640-19852790	RPTEC	kidney:	n/a	n/a
18	CTCF	chr4:19852680-19852830	HMF	breast:	n/a	n/a
19	CTCF	chr4:19852660-19852810	HCFaa	heart:	n/a	n/a
20	CTCF	chr4:19890383-19890391	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:19890338-19890451	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr4:19890360-19890510	GM12873	blood:	n/a	n/a
23	CTCF	chr4:19921404-19921429	GM13976	blood:	n/a	n/a
24	CTCF	chr4:19852700-19852850	HMF	breast:	n/a	n/a
25	CTCF	chr4:19852680-19852830	AG09319	gingival:	n/a	n/a
26	CTCF	chr4:19913520-19913670	HepG2	liver:	n/a	n/a
27	CTCF	chr4:19890380-19890530	AG10803	skin:	n/a	n/a
28	CTCF	chr4:19890228-19890433	A549	lung:	n/a	n/a
29	CTCF	chr4:19846281-19846312	GM20000	blood:	n/a	n/a
30	CTCF	chr4:19890320-19890470	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr4:19890355-19890447	LNCaP	prostate:	n/a	n/a
32	CTCF	chr4:19890360-19890510	NB4	blood:	n/a	n/a
33	CTCF	chr4:19890220-19890370	K562	blood:	n/a	n/a
34	CTCF	chr4:19890333-19890443	GM12891	blood:	n/a	n/a
35	CTCF	chr4:19890320-19890470	GM12875	blood:	n/a	n/a
36	CTCF	chr4:19852600-19852750	RPTEC	kidney:	n/a	n/a
37	CTCF	chr4:19890326-19890459	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr4:19890229-19890471	A549	lung:	n/a	n/a
39	CTCF	chr4:19907581-19907609	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr4:19852640-19852790	AG10803	skin:	n/a	n/a
41	CTCF	chr4:19890300-19890450	GM12870	blood:	n/a	n/a
42	CTCF	chr4:19852740-19852890	NHEK	skin:	n/a	n/a
43	CTCF	chr4:19890347-19890426	K562	blood:	n/a	n/a
44	CTCF	chr4:19890234-19890452	A549	lung:	n/a	n/a
45	CTCF	chr4:19890420-19890570	HAc	cerebellar:	n/a	n/a
46	CTCF	chr4:19890325-19890459	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:19852720-19852870	HPF	lung:	n/a	n/a
48	CTCF	chr4:19852680-19852830	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr4:19852720-19852870	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr4:19890340-19890490	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:19835706..19836351-chr5:9383849..9384559,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLIT2-1	chr4:19857899-19858018	ENSG00000248515.1
2	lnc-SLIT2-1	chr4:19910835-19911315	ENSG00000248515.1

Variant related genes	Relation type
ENSG00000241612	TF binding region

Extended variants
information (count: 1655 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4380519	chr4:19810878-19810879	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371802064	chr4:19810924-19810925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116470949	chr4:19810933-19810934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377708676	chr4:19810951-19810952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs207464364	chr4:19810961-19810962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4315783	chr4:19810968-19810969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556500555	chr4:19811014-19811015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9999794	chr4:19811015-19811016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542190579	chr4:19811087-19811088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180832235	chr4:19811110-19811111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536769151	chr4:19811111-19811112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572151058	chr4:19811130-19811131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545798948	chr4:19811141-19811142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117814239	chr4:19811146-19811147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187323317	chr4:19811166-19811167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556784307	chr4:19811172-19811173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576620375	chr4:19811259-19811260	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562571472	chr4:19811310-19811311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555118367	chr4:19811391-19811392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145556503	chr4:19811447-19811448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548544549	chr4:19811463-19811464	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79162631	chr4:19811526-19811527	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564937354	chr4:19811540-19811541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370071669	chr4:19811542-19811543	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576467731	chr4:19811552-19811553	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192283748	chr4:19811566-19811567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545903854	chr4:19811573-19811574	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61790555	chr4:19811652-19811653	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570499272	chr4:19811697-19811698	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528500060	chr4:19811700-19811701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148880582	chr4:19811718-19811719	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs542174712	chr4:19811721-19811722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs55834545	chr4:19811725-19811726	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142660456	chr4:19811763-19811764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572416657	chr4:19811784-19811785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs545760085	chr4:19811795-19811796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531266551	chr4:19811820-19811821	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115687862	chr4:19811821-19811822	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs61244149	chr4:19811882-19811883	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531979407	chr4:19811889-19811890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558271609	chr4:19811926-19811927	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs76735804	chr4:19811953-19811954	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543588297	chr4:19811957-19811958	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs181678729	chr4:19811994-19811995	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571064706	chr4:19811996-19811997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs114671465	chr4:19812011-19812012	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542050287	chr4:19812040-19812041	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560453794	chr4:19812064-19812065	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527604032	chr4:19812080-19812081	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552180819	chr4:19812127-19812128	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19808800-19811000	Weak transcription	Fetal Lung	lung
2	chr4:19809400-19813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:19809600-19811000	Enhancers	NHDF-Ad	bronchial
4	chr4:19809800-19811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:19810000-19811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:19810400-19811400	Enhancers	Osteobl	bone
7	chr4:19810800-19811000	Enhancers	Fetal Stomach	stomach
8	chr4:19810800-19811400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:19810800-19811400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:19810800-19811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:19810800-19811600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:19810800-19812000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:19811000-19811200	Enhancers	NH-A	brain
14	chr4:19811000-19811600	Enhancers	Fetal Lung	lung
15	chr4:19811000-19812200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:19811400-19829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:19811600-19812000	Weak transcription	Fetal Lung	lung
18	chr4:19811600-19812400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:19811800-19813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:19812000-19813800	Enhancers	Fetal Lung	lung
21	chr4:19813000-19817800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:19813600-19814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:19817600-19818800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:19817800-19818600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:19818000-19818600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:19825400-19825800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:19825800-19827600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:19827600-19829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:19829200-19830200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:19832600-19833600	Enhancers	NHLF	lung
31	chr4:19833000-19833400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:19833000-19834400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:19833200-19834200	Enhancers	NH-A	brain
34	chr4:19833200-19834400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:19833200-19834600	Enhancers	NHDF-Ad	bronchial
36	chr4:19833200-19834600	Enhancers	NHEK	skin
37	chr4:19833400-19834200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:19833400-19834600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:19833600-19833800	Flanking Active TSS	NHLF	lung
40	chr4:19833600-19834200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:19833600-19834400	Enhancers	Osteobl	bone
42	chr4:19833800-19834000	Enhancers	NHLF	lung
43	chr4:19833800-19834400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr4:19834000-19834400	Flanking Active TSS	NHLF	lung
45	chr4:19834000-19834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:19834200-19834600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:19834400-19834600	Enhancers	NHLF	lung
48	chr4:19841800-19842800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:19842400-19842600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:19842800-19843800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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