Variant report

Variant	nsv980213
Chromosome Location	chr4:69870183-69893292
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	chr4:69888831-69889086	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69885444-69885630	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69884842-69885191	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69885882-69886539	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:69890715-69891247	HepG2	liver:	n/a	n/a
6	BCL3	chr4:69885805-69886533	A549	lung:	n/a	n/a
7	CEBPB	chr4:69888701-69889087	HepG2	liver:	n/a	chr4:69888891-69888904 chr4:69888893-69888904 chr4:69888891-69888902
8	CEBPB	chr4:69883592-69883726	H1-hESC	embryonic stem cell:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
9	CEBPB	chr4:69882137-69882260	K562	blood:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
10	CEBPB	chr4:69886176-69886490	A549	lung:	n/a	n/a
11	CEBPB	chr4:69883582-69883882	HepG2	liver:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
12	CEBPB	chr4:69883642-69883886	A549	lung:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
13	CEBPB	chr4:69886187-69886480	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:69882088-69882303	IMR90	lung:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
15	CEBPB	chr4:69888809-69888934	HepG2	liver:	n/a	chr4:69888891-69888904 chr4:69888893-69888904 chr4:69888891-69888902
16	CEBPB	chr4:69886177-69886484	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:69882055-69882382	HepG2	liver:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
18	CEBPB	chr4:69886059-69886427	A549	lung:	n/a	n/a
19	CEBPB	chr4:69883563-69883844	IMR90	lung:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
20	CEBPB	chr4:69885959-69886509	HepG2	liver:	n/a	n/a
21	CTCF	chr4:69891040-69891190	GM12869	blood:	n/a	n/a
22	CTCF	chr4:69891180-69891330	AG04450	lung:	n/a	n/a
23	CTCF	chr4:69890997-69891311	A549	lung:	n/a	n/a
24	CTCF	chr4:69891092-69891184	GM10248	blood:	n/a	n/a
25	CTCF	chr4:69891100-69891250	GM12868	blood:	n/a	n/a
26	CTCF	chr4:69890907-69891357	MCF-7	breast:	n/a	n/a
27	CTCF	chr4:69891067-69891243	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr4:69891100-69891250	GM12878	blood:	n/a	n/a
29	CTCF	chr4:69891102-69891220	GM10266	blood:	n/a	n/a
30	CTCF	chr4:69891104-69891159	Medullo	brain:	n/a	n/a
31	CTCF	chr4:69880786-69880870	GM10248	blood:	n/a	n/a
32	CTCF	chr4:69891060-69891210	GM12872	blood:	n/a	n/a
33	CTCF	chr4:69891060-69891210	GM12865	blood:	n/a	n/a
34	CTCF	chr4:69891100-69891250	GM12869	blood:	n/a	n/a
35	CTCF	chr4:69891080-69891230	HVMF	connective:	n/a	n/a
36	CTCF	chr4:69891100-69891250	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr4:69890996-69891312	A549	lung:	n/a	n/a
38	CTCF	chr4:69891060-69891210	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr4:69891014-69891305	GM19238	blood:	n/a	n/a
40	CTCF	chr4:69891080-69891230	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr4:69880763-69880788	ProgFib	skin:	n/a	n/a
42	CTCF	chr4:69891100-69891250	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr4:69891100-69891250	HCT-116	colon:	n/a	n/a
44	CTCF	chr4:69891047-69891261	NHEK	skin:	n/a	n/a
45	CTCF	chr4:69891100-69891250	HepG2	liver:	n/a	n/a
46	CTCF	chr4:69891100-69891250	GM12871	blood:	n/a	n/a
47	CTCF	chr4:69891080-69891230	GM12873	blood:	n/a	n/a
48	CTCF	chr4:69891040-69891190	HRE	kidney:	n/a	n/a
49	CTCF	chr4:69891039-69891270	GM19239	blood:	n/a	n/a
50	CTCF	chr4:69891040-69891190	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2A3-9	chr4:69887374-69888058	NONHSAT096750

Variant related genes	Relation type
ENSG00000249890	TF binding region
ENSG00000250919	TF binding region
ENSG00000251685	TF binding region

Extended variants
information (count: 1245 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1245 , 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	rs527880663	chr4:69870217-69870218	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548107146	chr4:69870254-69870255	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567274397	chr4:69870256-69870257	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76141997	chr4:69870278-69870279	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186054021	chr4:69870301-69870302	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370631369	chr4:69870302-69870303	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550218252	chr4:69870307-69870308	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114327988	chr4:69870331-69870332	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539168434	chr4:69870384-69870385	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147478836	chr4:69870394-69870395	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191296832	chr4:69870399-69870400	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534527430	chr4:69870417-69870418	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182712612	chr4:69870426-69870427	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139899336	chr4:69870445-69870446	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369199793	chr4:69870459-69870460	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36022738	chr4:69870460-69870461	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34072534	chr4:69870467-69870468	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201102731	chr4:69870473-69870474	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556574998	chr4:69870481-69870482	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576410472	chr4:69870497-69870498	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545543477	chr4:69870523-69870524	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376137170	chr4:69870531-69870532	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370146197	chr4:69870533-69870534	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185908686	chr4:69870535-69870536	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145349763	chr4:69870548-69870549	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372044065	chr4:69870564-69870565	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530431359	chr4:69870570-69870571	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190827127	chr4:69870607-69870608	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370176638	chr4:69870614-69870615	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111542944	chr4:69870721-69870722	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532547802	chr4:69870724-69870725	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139946928	chr4:69870735-69870736	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566044881	chr4:69870738-69870739	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371073343	chr4:69870746-69870747	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199719998	chr4:69870755-69870756	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200280267	chr4:69870759-69870760	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548100568	chr4:69870760-69870761	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183339797	chr4:69870766-69870767	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536978409	chr4:69870769-69870770	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200387448	chr4:69870774-69870775	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149826760	chr4:69870789-69870790	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558142545	chr4:69870815-69870816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539069540	chr4:69870818-69870819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374448386	chr4:69870827-69870828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145798788	chr4:69870830-69870831	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189163842	chr4:69870853-69870854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541873873	chr4:69870871-69870872	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538929516	chr4:69870902-69870903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561499806	chr4:69870949-69870950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558785647	chr4:69870971-69870972	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69868800-69882000	Weak transcription	HepG2	liver
2	chr4:69869200-69872400	Strong transcription	Liver	Liver
3	chr4:69870000-69870800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:69870200-69870600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:69872400-69873200	Weak transcription	Liver	Liver
6	chr4:69873200-69875200	Strong transcription	Liver	Liver
7	chr4:69875200-69878600	Weak transcription	Liver	Liver
8	chr4:69878600-69879400	Genic enhancers	Liver	Liver
9	chr4:69879400-69880200	Weak transcription	Liver	Liver
10	chr4:69880200-69880800	Enhancers	Liver	Liver
11	chr4:69880800-69882000	Weak transcription	Liver	Liver
12	chr4:69882000-69882200	Flanking Active TSS	Liver	Liver
13	chr4:69882000-69883800	Enhancers	HepG2	liver
14	chr4:69882200-69882400	Enhancers	Liver	Liver
15	chr4:69882400-69882800	Flanking Active TSS	Liver	Liver
16	chr4:69882800-69883000	Active TSS	Liver	Liver
17	chr4:69883000-69883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:69883000-69883200	Flanking Active TSS	Liver	Liver
19	chr4:69883200-69883400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:69883200-69886200	Active TSS	Liver	Liver
21	chr4:69883600-69883800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:69883800-69884000	Flanking Active TSS	HepG2	liver
23	chr4:69883800-69885000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:69884000-69884800	Enhancers	HepG2	liver
25	chr4:69884200-69884600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:69884800-69885200	Enhancers	A549	lung
27	chr4:69884800-69885400	Flanking Active TSS	HepG2	liver
28	chr4:69884800-69886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:69885000-69885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:69885000-69886000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:69885000-69886200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:69885000-69886200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:69885200-69885400	Flanking Active TSS	A549	lung
34	chr4:69885200-69886400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:69885400-69885800	Active TSS	A549	lung
36	chr4:69885400-69885800	Enhancers	HepG2	liver
37	chr4:69885400-69886000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:69885400-69886000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:69885400-69886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:69885800-69886000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:69885800-69886200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr4:69885800-69886200	Flanking Active TSS	HepG2	liver
43	chr4:69885800-69887000	Weak transcription	A549	lung
44	chr4:69885800-69887200	Enhancers	Fetal Intestine Large	intestine
45	chr4:69886000-69889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:69886000-69889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:69886000-69891000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:69886200-69889200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:69886200-69889400	Enhancers	Liver	Liver
50	chr4:69886200-69889800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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