Variant report

Variant	nsv879831
Chromosome Location	chr4:118470151-118502728
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	chr4:118470825-118471177	HepG2	liver:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
2	CEBPB	chr4:118470819-118471146	A549	lung:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
3	CEBPB	chr4:118470846-118471144	H1-hESC	embryonic stem cell:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
4	CEBPB	chr4:118470874-118471170	K562	blood:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
5	CEBPB	chr4:118470821-118471168	IMR90	lung:	n/a	chr4:118470987-118471000 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470989-118470998 chr4:118470987-118471000 chr4:118470989-118471000 chr4:118470989-118470998 chr4:118470987-118470998
6	CEBPB	chr4:118486322-118486565	HepG2	liver:	n/a	n/a
7	CTCF	chr4:118481616-118481766	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:118481492-118481842	GM12878	blood:	n/a	n/a
9	CTCF	chr4:118481581-118481781	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr4:118481560-118481710	GM06990	blood:	n/a	n/a
11	CTCF	chr4:118497144-118497213	Fibrobl	skin:	n/a	n/a
12	CTCF	chr4:118481600-118481750	HRE	kidney:	n/a	n/a
13	CTCF	chr4:118481740-118481890	BE2_C	brain:	n/a	n/a
14	CTCF	chr4:118481540-118481690	HCT-116	colon:	n/a	n/a
15	CTCF	chr4:118497143-118497233	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:118481589-118481767	Medullo	brain:	n/a	n/a
17	CTCF	chr4:118481580-118481730	AG04450	lung:	n/a	n/a
18	CTCF	chr4:118481520-118481670	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:118481560-118481710	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr4:118481460-118481902	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:118481580-118481730	AG04449	skin:	n/a	n/a
22	CTCF	chr4:118481617-118481719	GM12878	blood:	n/a	n/a
23	CTCF	chr4:118481620-118481770	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr4:118481520-118481670	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:118481580-118481730	HMEC	breast:	n/a	n/a
26	CTCF	chr4:118481480-118481870	IMR90	lung:	n/a	n/a
27	CTCF	chr4:118481520-118481670	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr4:118481473-118481988	HCT-116	colon:	n/a	n/a
29	CTCF	chr4:118481540-118481690	RPTEC	kidney:	n/a	n/a
30	CTCF	chr4:118481640-118481790	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr4:118481632-118481729	LNCaP	prostate:	n/a	n/a
32	CTCF	chr4:118481620-118481770	AG04450	lung:	n/a	n/a
33	CTCF	chr4:118481820-118481970	AG04450	lung:	n/a	n/a
34	CTCF	chr4:118481600-118481750	RPTEC	kidney:	n/a	n/a
35	CTCF	chr4:118481680-118481830	HPF	lung:	n/a	n/a
36	CTCF	chr4:118497148-118497154	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:118481900-118482050	HMEC	breast:	n/a	n/a
38	CTCF	chr4:118497156-118497240	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:118497145-118497223	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:118481580-118481730	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr4:118481622-118481748	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr4:118481520-118481670	HMEC	breast:	n/a	n/a
43	CUX1	chr4:118474962-118475017	GM12878	blood:	n/a	n/a
44	EP300	chr4:118477004-118477029	GM12878	blood:	n/a	n/a
45	ESR1	chr4:118498821-118499251	T-47D	breast:	n/a	n/a
46	ESR1	chr4:118498940-118499195	T-47D	breast:	n/a	n/a
47	FOXP2	chr4:118493515-118493778	SK-N-MC	brain:	n/a	n/a
48	FOXP2	chr4:118470672-118470923	SK-N-MC	brain:	n/a	n/a
49	GATA3	chr4:118498945-118499384	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr4:118498745-118499345	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:118497254-118497304	AG10803	skin:	n/a
2	chr4:118497266-118497316	A549	lung:	n/a
3	chr4:118497134-118497184	HRCEpiC	kidney:	n/a
4	chr4:118497254-118497304	HUVEC	blood vessel:	n/a
5	chr4:118497266-118497316	HCT-116	colon:	n/a
6	chr4:118497134-118497184	SKMC	muscle:	n/a
7	chr4:118497266-118497316	PFSK-1	brain:	n/a
8	chr4:118497254-118497304	GM12892	blood:	n/a
9	chr4:118497254-118497304	NHBE	bronchial:	n/a
10	chr4:118497254-118497304	NB4	blood:	n/a
11	chr4:118497134-118497184	T-47D	breast:	n/a
12	chr4:118497254-118497304	HEEpiC	esophagus:	n/a
13	chr4:118497134-118497184	ProgFib	skin:	n/a
14	chr4:118497134-118497184	HCM	heart:	n/a
15	chr4:118497266-118497316	HNPCEpiC	eye:	n/a
16	chr4:118497134-118497184	U87	brain:	n/a
17	chr4:118497254-118497304	Caco-2	colon:	n/a
18	chr4:118497254-118497304	NT2-D1	testis:	n/a
19	chr4:118497134-118497184	HUVEC	blood vessel:	n/a
20	chr4:118497134-118497184	Jurkat	blood:	n/a
21	chr4:118497254-118497304	IMR90	lung:	fetal
22	chr4:118497134-118497184	HCT-116	colon:	n/a
23	chr4:118497266-118497316	HIPEpiC	eye:	n/a
24	chr4:118497266-118497316	GM12878	blood:	n/a
25	chr4:118497266-118497316	MCF10A-Er-Src	breast:	n/a
26	chr4:118497254-118497304	HEK293	kidney:	embryo
27	chr4:118497254-118497304	PrEC	prostate:	n/a
28	chr4:118497254-118497304	MCF-7	breast:	n/a
29	chr4:118497134-118497184	CMK	blood:	n/a
30	chr4:118497134-118497184	AoSMC	blood vessel:	n/a
31	chr4:118497266-118497316	AG04449	skin:	fetal
32	chr4:118497266-118497316	HAEpiC	amniotic membrane:	n/a
33	chr4:118497134-118497184	AG10803	skin:	n/a
34	chr4:118497266-118497316	AoSMC	blood vessel:	n/a
35	chr4:118497134-118497184	NT2-D1	testis:	n/a
36	chr4:118497134-118497184	HL-60	blood:	n/a
37	chr4:118497266-118497316	SK-N-SH	brain:	n/a
38	chr4:118497266-118497316	AG09309	skin:	n/a
39	chr4:118497266-118497316	ECC-1	luminal epithelium:	n/a
40	chr4:118497134-118497184	NH-A	brain:	n/a
41	chr4:118497266-118497316	HCF	heart:	n/a
42	chr4:118497254-118497304	LNCaP	prostate:	n/a
43	chr4:118497134-118497184	HRPEpiC	eye:	n/a
44	chr4:118497134-118497184	RPTEC	kidney:	n/a
45	chr4:118497266-118497316	GM12892	blood:	n/a
46	chr4:118497266-118497316	HRCEpiC	kidney:	n/a
47	chr4:118497266-118497316	BE2_C	brain:	n/a
48	chr4:118497134-118497184	HIPEpiC	eye:	n/a
49	chr4:118497254-118497304	GM06990	blood:	n/a
50	chr4:118497266-118497316	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:118490388..118492946-chr4:118494495..118496357,2	MCF-7	breast:
2	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
3	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
4	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
5	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
6	4:118499433-118507619..4:118559839-118566258	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-9	chr4:118501943-118502110	l_2711_chr4:118501151-118513199_testes
2	lnc-NDST3-9	chr4:118501152-118501414	l_2711_chr4:118501151-118513199_testes
3	lnc-TRAM1L1-4	chr4:118491797-118491842	NONHSAT097961
4	lnc-NDST3-9	chr4:118501953-118502110	NONHSAT097963
5	lnc-TRAM1L1-4	chr4:118500332-118500413	NONHSAT097961
6	lnc-NDST3-4	chr4:118498122-118498145	ENSG00000236922.5
7	lnc-NDST3-4	chr4:118492910-118493290	ENSG00000236922.5
8	lnc-TRAM1L1-4	chr4:118501168-118501243	NONHSAT097961

Variant related genes	Relation type
ENSG00000236922	TF binding region
NT5C3AP1	TF binding region
ENSG00000236922	CpG island
NT5C3AP1	CpG island
ENSG00000236922	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186068338	chr4:118470659-118470660	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs17875161	chr4:118470674-118470675	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17869773	chr4:118470719-118470720	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190937465	chr4:118470786-118470787	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569874268	chr4:118470801-118470802	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558736825	chr4:118470819-118470820	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572346564	chr4:118470837-118470838	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181232583	chr4:118470900-118470901	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186473026	chr4:118470986-118470987	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34801530	chr4:118470987-118470988	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147664786	chr4:118470997-118470998	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563590691	chr4:118471023-118471024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17862030	chr4:118471024-118471025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190179636	chr4:118471078-118471079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182752278	chr4:118471119-118471120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559932599	chr4:118471133-118471134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552438315	chr4:118471141-118471142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566158847	chr4:118471161-118471162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528752198	chr4:118471172-118471173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17866136	chr4:118471286-118471287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185891110	chr4:118471383-118471384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535174788	chr4:118471424-118471425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554659403	chr4:118471433-118471434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28945109	chr4:118471442-118471443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190888962	chr4:118471531-118471532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371101237	chr4:118471555-118471556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535807613	chr4:118471589-118471590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192478084	chr4:118491550-118491551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533963167	chr4:118491551-118491552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547309404	chr4:118491581-118491582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs567555949	chr4:118491588-118491589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17862948	chr4:118491800-118491801	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185809562	chr4:118491826-118491827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112947385	chr4:118491827-118491828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs529885896	chr4:118492935-118492936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs185996295	chr4:118492957-118492958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569951792	chr4:118492960-118492961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs532345192	chr4:118492980-118492981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs147558117	chr4:118493001-118493002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189671664	chr4:118493034-118493035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs181352711	chr4:118493076-118493077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112014309	chr4:118493120-118493121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs17869321	chr4:118493176-118493177	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112991569	chr4:118493180-118493181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375435758	chr4:118493206-118493207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537228447	chr4:118493245-118493246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs148618802	chr4:118493248-118493249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs190632111	chr4:118493283-118493284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13139614	chr4:118494499-118494500	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543176315	chr4:118494504-118494505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118470600-118470800	Enhancers	Brain Angular Gyrus	brain
2	chr4:118470600-118471000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:118470600-118471000	Active TSS	Brain Anterior Caudate	brain
4	chr4:118470600-118471000	Enhancers	Brain Hippocampus Middle	brain
5	chr4:118470600-118471000	Enhancers	Small Intestine	intestine
6	chr4:118470600-118471400	Enhancers	Fetal Kidney	kidney
7	chr4:118470600-118471600	Enhancers	Fetal Lung	lung
8	chr4:118470800-118471600	Enhancers	Colon Smooth Muscle	Colon
9	chr4:118498400-118499000	Enhancers	Dnd41	blood
10	chr4:118498400-118499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:118499000-118499400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:118499000-118499400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:118499000-118499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:118499000-118499800	Flanking Active TSS	Dnd41	blood
15	chr4:118499800-118500400	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links