Variant report

Variant	nsv967814
Chromosome Location	chr4:174339447-174341974
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	ARID3A	chr4:174341452-174341808	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:174341472-174341780	K562	blood:	n/a	n/a
3	BACH1	chr4:174341601-174341794	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:174341540-174341690	Hela-S3	cervix:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
5	CTCF	chr4:174341580-174341730	NHEK	skin:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
6	CTCF	chr4:174341520-174341670	BE2_C	brain:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
7	CTCF	chr4:174341558-174341712	Kidney_OC	kidney:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
8	CTCF	chr4:174341596-174341696	HepG2	liver:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
9	CTCF	chr4:174341569-174341727	SK-N-SH_RA	brain:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
10	CTCF	chr4:174341620-174341770	HBMEC	blood vessel:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
11	CTCF	chr4:174341760-174341910	SAEC	small airway:	n/a	n/a
12	CTCF	chr4:174341600-174341750	HPF	lung:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
13	CTCF	chr4:174341520-174341670	HRPEpiC	eye:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
14	CTCF	chr4:174341600-174341750	SK-N-SH_RA	brain:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
15	CTCF	chr4:174341540-174341690	HFF	foreskin:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
16	CTCF	chr4:174341510-174341706	A549	lung:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
17	CTCF	chr4:174341560-174341710	GM12864	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
18	CTCF	chr4:174341560-174341710	BE2_C	brain:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
19	CTCF	chr4:174341200-174341350	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr4:174341580-174341730	HA-sp	spinal cord:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
21	CTCF	chr4:174340840-174340990	SAEC	small airway:	n/a	n/a
22	CTCF	chr4:174341800-174341950	GM12878	blood:	n/a	n/a
23	CTCF	chr4:174341580-174341730	HBMEC	blood vessel:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
24	CTCF	chr4:174341580-174341730	GM12867	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
25	CTCF	chr4:174341580-174341730	AG09309	skin:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
26	CTCF	chr4:174341560-174341710	HPAF	blood vessel:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
27	CTCF	chr4:174341571-174341707	GM10248	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
28	CTCF	chr4:174341516-174341718	GM10266	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
29	CTCF	chr4:174341680-174341830	HVMF	connective:	n/a	n/a
30	CTCF	chr4:174341540-174341690	GM12864	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
31	CTCF	chr4:174341540-174341690	HepG2	liver:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
32	CTCF	chr4:174341300-174341450	GM12878	blood:	n/a	n/a
33	CTCF	chr4:174341434-174341809	ECC-1	luminal epithelium:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
34	CTCF	chr4:174341560-174341710	HEK293	kidney:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
35	CTCF	chr4:174341240-174341510	WI-38	lung:	n/a	n/a
36	CTCF	chr4:174341320-174341470	GM12868	blood:	n/a	n/a
37	CTCF	chr4:174341551-174341723	LNCaP	prostate:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
38	CTCF	chr4:174341320-174341470	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr4:174340911-174340962	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr4:174340894-174340907	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr4:174341300-174341450	HPF	lung:	n/a	n/a
42	CTCF	chr4:174341600-174341750	GM12873	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
43	CTCF	chr4:174341560-174341710	AG04450	lung:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
44	CTCF	chr4:174341452-174341740	A549	lung:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
45	CTCF	chr4:174341461-174341909	MCF-7	breast:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
46	CTCF	chr4:174341800-174341950	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr4:174341020-174341170	GM12865	blood:	n/a	n/a
48	CTCF	chr4:174341600-174341750	HAc	cerebellar:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
49	CTCF	chr4:174341549-174341727	LNCaP	prostate:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656
50	CTCF	chr4:174341620-174341770	GM12874	blood:	n/a	chr4:174341634-174341650 chr4:174341633-174341651 chr4:174341635-174341656

No.	Distal block	Cell Line	Cell type
1	chr4:174253487..174255950-chr4:174341236..174343023,2	MCF-7	breast:
2	chr4:174288416..174294582-chr4:174334804..174340185,11	MCF-7	breast:
3	chr4:174341597..174342111-chr4:174415247..174415756,2	K562	blood:
4	chr4:174249343..174251576-chr4:174340147..174342867,2	MCF-7	breast:

Variant related genes	Relation type
RPL5P11	TF binding region
ENSG00000248774	chromatin interactions
ENSG00000272870	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000164105	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571662200	chr4:174339449-174339450	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527828979	chr4:174339486-174339487	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547451201	chr4:174339530-174339531	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6852086	chr4:174339545-174339546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535328657	chr4:174339576-174339577	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555261603	chr4:174339620-174339621	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs578044960	chr4:174339641-174339642	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35448976	chr4:174339689-174339690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556182525	chr4:174339697-174339698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs116492473	chr4:174339706-174339707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557971311	chr4:174339710-174339711	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368469181	chr4:174339743-174339744	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577660724	chr4:174339747-174339748	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565753080	chr4:174339768-174339769	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139357575	chr4:174339860-174339861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573695157	chr4:174339934-174339935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370170058	chr4:174340005-174340006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150046583	chr4:174340027-174340028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563181267	chr4:174340072-174340073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531902564	chr4:174340088-174340089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545264240	chr4:174340149-174340150	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565522554	chr4:174340197-174340198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145399729	chr4:174340217-174340218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547882578	chr4:174340269-174340270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567291773	chr4:174340323-174340324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202233488	chr4:174340332-174340333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201617673	chr4:174340333-174340334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs80175613	chr4:174340340-174340341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530036823	chr4:174340365-174340366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190171337	chr4:174340380-174340381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141051855	chr4:174340404-174340405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144949110	chr4:174340405-174340406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557647668	chr4:174340409-174340410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181311534	chr4:174340410-174340411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111835796	chr4:174340449-174340450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111350422	chr4:174340456-174340457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553853992	chr4:174340474-174340475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573635809	chr4:174340590-174340591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561502495	chr4:174340599-174340600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571933342	chr4:174340600-174340601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540692751	chr4:174340603-174340604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556236926	chr4:174340613-174340614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563874664	chr4:174340655-174340656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185375850	chr4:174340665-174340666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189893707	chr4:174340667-174340668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182800374	chr4:174340673-174340674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572620780	chr4:174340674-174340675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371894394	chr4:174340689-174340690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576125187	chr4:174340693-174340694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561056472	chr4:174340766-174340767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian cancer	22355333	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174294000-174340400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:174294200-174341600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:174294800-174341800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:174319600-174341800	Weak transcription	NHDF-Ad	bronchial
5	chr4:174320800-174347000	Weak transcription	Aorta	Aorta
6	chr4:174321000-174341800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:174321000-174341800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:174324600-174346200	Weak transcription	HSMMtube	muscle
9	chr4:174324800-174345600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:174325800-174341800	Weak transcription	Brain Germinal Matrix	brain
11	chr4:174327400-174341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:174331600-174341200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:174331600-174346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:174331600-174357400	Weak transcription	Left Ventricle	heart
15	chr4:174332400-174340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:174333800-174354600	Weak transcription	Lung	lung
17	chr4:174333800-174357800	Weak transcription	Pancreas	Pancrea
18	chr4:174334000-174368800	Weak transcription	Fetal Stomach	stomach
19	chr4:174334600-174341600	Weak transcription	Dnd41	blood
20	chr4:174335800-174341600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:174336000-174341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:174336200-174346600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:174336400-174339800	Enhancers	Stomach Mucosa	stomach
24	chr4:174336400-174341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:174337000-174345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:174337600-174339600	Weak transcription	Primary B cells from cord blood	blood
27	chr4:174337600-174341600	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:174337600-174366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:174338000-174340600	Enhancers	HUVEC	blood vessel
30	chr4:174338000-174341400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:174338200-174341600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:174338200-174341800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:174338200-174348600	Weak transcription	Brain Substantia Nigra	brain
34	chr4:174338400-174340800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:174338400-174341600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:174338400-174341600	Weak transcription	Fetal Lung	lung
37	chr4:174338400-174341800	Weak transcription	Fetal Brain Male	brain
38	chr4:174338600-174341400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:174338600-174341600	Weak transcription	Brain Angular Gyrus	brain
40	chr4:174338600-174341600	Weak transcription	Brain Anterior Caudate	brain
41	chr4:174338600-174341600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:174338600-174341600	Weak transcription	Osteobl	bone
43	chr4:174338800-174339800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:174339000-174339800	Strong transcription	Ovary	ovary
45	chr4:174339600-174340200	Enhancers	Primary B cells from cord blood	blood
46	chr4:174339800-174341600	Weak transcription	Stomach Mucosa	stomach
47	chr4:174339800-174352400	Weak transcription	Ovary	ovary
48	chr4:174340200-174342200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:174340600-174341600	Weak transcription	HUVEC	blood vessel
50	chr4:174340600-174341800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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