Variant report

Variant	nsv441857
Chromosome Location	chr4:8165884-8173919
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	ATF2	chr4:8173906-8174284	GM12878	blood:	n/a	n/a
2	BCL3	chr4:8173697-8173995	GM12878	blood:	n/a	n/a
3	BCLAF1	chr4:8173866-8174279	GM12878	blood:	n/a	n/a
4	CBX3	chr4:8170006-8170402	K562	blood:	n/a	n/a
5	CBX3	chr4:8169988-8170331	K562	blood:	n/a	n/a
6	CEBPB	chr4:8170818-8170902	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:8171974-8172194	HepG2	liver:	n/a	chr4:8172120-8172131
8	CHD2	chr4:8173883-8174384	GM12878	blood:	n/a	n/a
9	CTCF	chr4:8170100-8170250	K562	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
10	CTCF	chr4:8170020-8170170	GM12868	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
11	CTCF	chr4:8170180-8170330	HVMF	connective:	n/a	n/a
12	CTCF	chr4:8170140-8170290	GM12866	blood:	n/a	chr4:8170142-8170160
13	CTCF	chr4:8170140-8170290	HCM	heart:	n/a	chr4:8170142-8170160
14	CTCF	chr4:8170080-8170230	A549	lung:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
15	CTCF	chr4:8170098-8170216	Lung_OC	lung:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
16	CTCF	chr4:8170153-8170304	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:8170020-8170170	GM12801	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
18	CTCF	chr4:8170177-8170232	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:8170040-8170190	MCF-7	breast:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
20	CTCF	chr4:8170080-8170230	GM12864	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
21	CTCF	chr4:8170140-8170290	GM12875	blood:	n/a	chr4:8170142-8170160
22	CTCF	chr4:8169991-8170321	K562	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
23	CTCF	chr4:8170146-8170278	GM19238	blood:	n/a	n/a
24	CTCF	chr4:8170100-8170250	Caco-2	colon:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
25	CTCF	chr4:8170060-8170210	HAc	cerebellar:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
26	CTCF	chr4:8170140-8170290	HPF	lung:	n/a	chr4:8170142-8170160
27	CTCF	chr4:8170160-8170310	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr4:8170160-8170310	HCM	heart:	n/a	n/a
29	CTCF	chr4:8170166-8170261	ProgFib	skin:	n/a	n/a
30	CTCF	chr4:8170060-8170210	GM12871	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
31	CTCF	chr4:8170154-8170231	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:8167273-8167315	GM19238	blood:	n/a	n/a
33	CTCF	chr4:8170040-8170190	GM12869	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
34	CTCF	chr4:8170120-8170270	GM12864	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
35	CTCF	chr4:8170120-8170270	HRE	kidney:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
36	CTCF	chr4:8170060-8170210	HCT-116	colon:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
37	CTCF	chr4:8170180-8170330	HMEC	breast:	n/a	n/a
38	CTCF	chr4:8166129-8166178	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr4:8170140-8170290	HCFaa	heart:	n/a	chr4:8170142-8170160
40	CTCF	chr4:8170060-8170210	GM12864	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
41	CTCF	chr4:8170100-8170250	Hela-S3	cervix:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
42	CTCF	chr4:8170060-8170210	GM12865	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
43	CTCF	chr4:8170120-8170270	GM12866	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
44	CTCF	chr4:8170120-8170270	GM12873	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
45	CTCF	chr4:8170062-8170201	HepG2	liver:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
46	CTCF	chr4:8170130-8170227	GM12878	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
47	CTCF	chr4:8170174-8170274	GM12891	blood:	n/a	n/a
48	CTCF	chr4:8170055-8170289	GM12878	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
49	CTCF	chr4:8170120-8170270	WERI-Rb-1	eye:	n/a	chr4:8170142-8170160 chr4:8170137-8170158
50	CTCF	chr4:8170080-8170268	GM13977	blood:	n/a	chr4:8170142-8170160 chr4:8170137-8170158

No.	Distal block	Cell Line	Cell type
1	chr4:8157586..8162505-chr4:8168243..8171726,5	MCF-7	breast:
2	chr4:8167178..8170899-chr4:8199660..8202553,4	MCF-7	breast:
3	chr4:8159576..8163492-chr4:8163504..8167545,5	MCF-7	breast:
4	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABLIM2-1	chr4:8165883-8166042	XLOC_003874

Variant related genes	Relation type
GMPSP1	TF binding region
ENSG00000125089	chromatin interactions
ENSG00000163995	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1109831	chr4:8165888-8165889	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs76293486	chr4:8165889-8165890	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs150692937	chr4:8165893-8165894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs193146135	chr4:8165943-8165944	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs533858241	chr4:8165970-8165971	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs543420112	chr4:8165997-8165998	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs555188475	chr4:8166002-8166003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs567391412	chr4:8166018-8166019	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs185235573	chr4:8166021-8166022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs190118628	chr4:8166028-8166029	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs371202697	chr4:8166052-8166053	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545722089	chr4:8166090-8166091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1109830	chr4:8166161-8166162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374450413	chr4:8166169-8166170	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112198880	chr4:8166186-8166187	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149830074	chr4:8166230-8166231	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368769815	chr4:8166240-8166241	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531718573	chr4:8166281-8166282	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551063372	chr4:8166306-8166307	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181203988	chr4:8166321-8166322	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566438999	chr4:8166333-8166334	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562353180	chr4:8166378-8166379	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146691177	chr4:8166382-8166383	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549287136	chr4:8166390-8166391	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186409345	chr4:8166395-8166396	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566430560	chr4:8166413-8166414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28616063	chr4:8166460-8166461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556333096	chr4:8166463-8166464	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548993625	chr4:8166464-8166465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140305027	chr4:8166481-8166482	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373803222	chr4:8166486-8166487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537982482	chr4:8166508-8166509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188137064	chr4:8166512-8166513	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571869908	chr4:8166522-8166523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539308953	chr4:8166572-8166573	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200715614	chr4:8166583-8166584	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367967206	chr4:8166593-8166594	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569217858	chr4:8166625-8166626	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539942194	chr4:8166630-8166631	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542634289	chr4:8166643-8166644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34663571	chr4:8166661-8166662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs180902864	chr4:8166694-8166695	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114093559	chr4:8166695-8166696	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543513567	chr4:8166702-8166703	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35770537	chr4:8166771-8166772	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562315964	chr4:8166803-8166804	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147401349	chr4:8166808-8166809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545225459	chr4:8166811-8166812	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376209739	chr4:8166831-8166832	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146436593	chr4:8166844-8166845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8161600-8166600	Enhancers	Primary B cells from cord blood	blood
2	chr4:8161600-8166600	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:8161800-8167000	Weak transcription	Right Atrium	heart
4	chr4:8161800-8167000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:8162200-8167200	Weak transcription	Right Ventricle	heart
6	chr4:8162400-8167000	Weak transcription	Left Ventricle	heart
7	chr4:8162400-8168200	Weak transcription	Gastric	stomach
8	chr4:8162400-8168200	Weak transcription	Spleen	Spleen
9	chr4:8164000-8167200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:8164800-8166200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:8164800-8167200	Enhancers	Fetal Thymus	thymus
12	chr4:8165200-8166800	Enhancers	Pancreas	Pancrea
13	chr4:8165200-8167600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:8165400-8166400	Enhancers	Fetal Muscle Leg	muscle
15	chr4:8165400-8167600	Enhancers	Fetal Heart	heart
16	chr4:8165600-8166000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:8165600-8166000	Enhancers	HSMMtube	muscle
18	chr4:8165600-8167000	Weak transcription	Esophagus	oesophagus
19	chr4:8165800-8166400	Flanking Active TSS	NHEK	skin
20	chr4:8165800-8167200	Enhancers	Psoas Muscle	Psoas
21	chr4:8166000-8167000	Weak transcription	HSMMtube	muscle
22	chr4:8166000-8167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:8166400-8166800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:8166400-8167400	Enhancers	NHEK	skin
25	chr4:8166400-8169800	Weak transcription	Liver	Liver
26	chr4:8166800-8168000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:8166800-8168200	Weak transcription	Pancreas	Pancrea
28	chr4:8166800-8168800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:8167000-8167400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:8167000-8167400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:8167000-8167400	Enhancers	HSMM	muscle
32	chr4:8167000-8167600	Enhancers	Left Ventricle	heart
33	chr4:8167000-8167600	Enhancers	Right Atrium	heart
34	chr4:8167000-8168000	Enhancers	HSMMtube	muscle
35	chr4:8167000-8170600	Enhancers	Esophagus	oesophagus
36	chr4:8167200-8167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:8167200-8167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:8167200-8167400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:8167200-8167400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:8167200-8167600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:8167200-8167600	Weak transcription	Psoas Muscle	Psoas
42	chr4:8167200-8167600	Enhancers	Right Ventricle	heart
43	chr4:8167400-8167800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:8167400-8168000	Enhancers	Fetal Muscle Trunk	muscle
45	chr4:8167400-8169600	Weak transcription	HSMM	muscle
46	chr4:8167600-8168000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:8167600-8169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:8167600-8170200	Weak transcription	Right Atrium	heart
49	chr4:8167600-8170600	Enhancers	Psoas Muscle	Psoas
50	chr4:8167800-8168000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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