Variant report

Variant	nsv879383
Chromosome Location	chr4:69995509-70046930
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	chr4:70036297-70036563	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70045525-70045926	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70018787-70019146	HepG2	liver:	n/a	n/a
4	ATF1	chr4:70044510-70044858	K562	blood:	n/a	n/a
5	ATF1	chr4:70033053-70033356	K562	blood:	n/a	n/a
6	ATF2	chr4:70033061-70033352	GM12878	blood:	n/a	n/a
7	ATF2	chr4:70032979-70033329	GM12878	blood:	n/a	n/a
8	BACH1	chr4:70033076-70033245	K562	blood:	n/a	n/a
9	BACH1	chr4:70036465-70036545	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr4:70033033-70033336	GM12878	blood:	n/a	chr4:70033221-70033232
11	BHLHE40	chr4:70044628-70044869	K562	blood:	n/a	n/a
12	CBX3	chr4:70033108-70033324	K562	blood:	n/a	n/a
13	CBX3	chr4:70033000-70033366	K562	blood:	n/a	n/a
14	CEBPB	chr4:70019767-70020117	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:70045638-70045779	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:70044569-70044904	K562	blood:	n/a	n/a
17	CEBPB	chr4:70019860-70019969	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:70045536-70045885	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:70046596-70046924	HepG2	liver:	n/a	chr4:70046754-70046765 chr4:70046753-70046764
20	CEBPB	chr4:70018840-70019114	HepG2	liver:	n/a	chr4:70018982-70018993 chr4:70018982-70018995
21	CEBPB	chr4:70044638-70044861	K562	blood:	n/a	n/a
22	CEBPD	chr4:70044512-70044940	K562	blood:	n/a	n/a
23	CEBPD	chr4:70045604-70045791	HepG2	liver:	n/a	n/a
24	CREB1	chr4:70033107-70033379	GM12878	blood:	n/a	n/a
25	CREB1	chr4:70033137-70033332	GM12878	blood:	n/a	n/a
26	CREB1	chr4:70045635-70045816	HepG2	liver:	n/a	n/a
27	CTCF	chr4:70036380-70036530	GM12869	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
28	CTCF	chr4:70022749-70022895	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr4:70022580-70022730	HCM	heart:	n/a	n/a
30	CTCF	chr4:70036340-70036490	HEEpiC	esophagus:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
31	CTCF	chr4:70022598-70022990	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr4:70036360-70036510	GM12874	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
33	CTCF	chr4:70036302-70036556	K562	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
34	CTCF	chr4:70022780-70022930	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr4:70036340-70036490	SAEC	small airway:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
36	CTCF	chr4:70022760-70022910	GM12875	blood:	n/a	n/a
37	CTCF	chr4:70022760-70022910	AG04450	lung:	n/a	n/a
38	CTCF	chr4:70036300-70036450	NB4	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
39	CTCF	chr4:70036258-70036506	MCF-7	breast:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
40	CTCF	chr4:70036318-70036532	ProgFib	skin:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
41	CTCF	chr4:70036300-70036450	HCT-116	colon:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
42	CTCF	chr4:70022780-70022930	HRE	kidney:	n/a	n/a
43	CTCF	chr4:70022740-70022890	AG04449	skin:	n/a	n/a
44	CTCF	chr4:70022800-70022950	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr4:70036340-70036485	Spleen_OC	spleen:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
46	CTCF	chr4:70036340-70036490	GM12872	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
47	CTCF	chr4:70036282-70036536	K562	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
48	CTCF	chr4:70022830-70022877	A549	lung:	n/a	n/a
49	CTCF	chr4:70022760-70022910	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr4:70036336-70036524	GM13976	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420

No.	Distal block	Cell Line	Cell type
1	chr4:69997242..69999000-chr4:70001834..70004061,2	K562	blood:
2	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
3	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
4	chr4:69997242..69999000-chr4:70001834..70004061,2	K562	blood:

Variant related genes	Relation type
ENSG00000196472	TF binding region
ENSG00000250696	TF binding region
ENSG00000251427	TF binding region
ENSG00000250100	TF binding region

Extended variants
information (count: 1621 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1621 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553570854	chr4:69997819-69997820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566974550	chr4:69997849-69997850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535950533	chr4:69997874-69997875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556025219	chr4:69997907-69997908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189851994	chr4:69997967-69997968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181498797	chr4:69998011-69998012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6600899	chr4:69998013-69998014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537278306	chr4:69998014-69998015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77307151	chr4:69998016-69998017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187132715	chr4:69998074-69998075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376194922	chr4:69998087-69998088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560678596	chr4:69998102-69998103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529553968	chr4:69998119-69998120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191025019	chr4:69998126-69998127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201794475	chr4:69998166-69998167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562873417	chr4:69998215-69998216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531712984	chr4:69998285-69998286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551498523	chr4:69998294-69998295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371282643	chr4:69998321-69998322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573871160	chr4:69998325-69998326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7674649	chr4:69998331-69998332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs183487179	chr4:69998343-69998344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62298878	chr4:69998354-69998355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11931182	chr4:69998379-69998380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188784043	chr4:69999266-69999267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529057934	chr4:69999270-69999271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574399492	chr4:69999279-69999280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192433534	chr4:69999286-69999287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556481876	chr4:69999300-69999301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368407353	chr4:69999305-69999306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542757068	chr4:69999306-69999307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576440156	chr4:69999324-69999325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6818992	chr4:69999338-69999339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528515424	chr4:69999360-69999361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565083191	chr4:69999419-69999420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572085897	chr4:69999426-69999427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541061132	chr4:69999443-69999444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184578478	chr4:69999446-69999447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529942186	chr4:69999447-69999448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549908243	chr4:69999492-69999493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563330519	chr4:69999495-69999496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532381637	chr4:69999515-69999516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375976422	chr4:69999517-69999518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551733709	chr4:69999532-69999533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115837493	chr4:69999533-69999534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189413761	chr4:69999574-69999575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531133753	chr4:69999584-69999585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75066651	chr4:69999611-69999612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567530840	chr4:69999674-69999675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114718079	chr4:69999708-69999709	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69997800-69998400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:69998000-69998400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:69999200-70000600	Enhancers	Liver	Liver
4	chr4:70018400-70019400	Enhancers	Liver	Liver
5	chr4:70018600-70019400	Enhancers	HepG2	liver
6	chr4:70019400-70031200	Weak transcription	HepG2	liver
7	chr4:70025800-70026200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:70030600-70031400	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:70031200-70031400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr4:70031200-70032600	Enhancers	HepG2	liver
11	chr4:70031400-70032600	Enhancers	Fetal Intestine Large	intestine
12	chr4:70031600-70031800	Enhancers	Liver	Liver
13	chr4:70031800-70035400	Active TSS	Liver	Liver
14	chr4:70032200-70032600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:70032600-70035400	Weak transcription	HepG2	liver
16	chr4:70035000-70035200	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr4:70035200-70043600	Weak transcription	Fetal Intestine Small	intestine
18	chr4:70035400-70035800	Flanking Active TSS	Liver	Liver
19	chr4:70035400-70036400	Enhancers	HepG2	liver
20	chr4:70035800-70038200	Enhancers	Liver	Liver
21	chr4:70038200-70038600	Weak transcription	Liver	Liver
22	chr4:70038600-70038800	Enhancers	Liver	Liver
23	chr4:70038800-70041000	Weak transcription	Liver	Liver
24	chr4:70041000-70042000	Strong transcription	Liver	Liver
25	chr4:70042000-70044400	Weak transcription	Liver	Liver
26	chr4:70043600-70043800	Enhancers	Fetal Intestine Large	intestine
27	chr4:70043600-70044800	Enhancers	Fetal Intestine Small	intestine
28	chr4:70043600-70045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:70043800-70044800	Weak transcription	Fetal Intestine Large	intestine
30	chr4:70044000-70044600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:70044200-70044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:70044400-70044600	Enhancers	Liver	Liver
33	chr4:70044400-70045000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:70044400-70045400	Enhancers	Stomach Mucosa	stomach
35	chr4:70044600-70045000	Flanking Active TSS	Liver	Liver
36	chr4:70044800-70045000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:70044800-70045200	Enhancers	Primary B cells from peripheral blood	blood
38	chr4:70044800-70045400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr4:70044800-70045600	Enhancers	Fetal Intestine Large	intestine
40	chr4:70045000-70045200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:70045000-70045200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:70045000-70045600	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:70045000-70045600	Enhancers	HepG2	liver
44	chr4:70045000-70045800	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:70045000-70046200	Enhancers	Liver	Liver
46	chr4:70045200-70046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:70045200-70047400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:70045400-70045600	Enhancers	Fetal Intestine Small	intestine
49	chr4:70045600-70046600	Weak transcription	HepG2	liver
50	chr4:70046200-70047400	Weak transcription	Liver	Liver

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