Variant report

Variant	esv3383741
Chromosome Location	chr4:8181152-8184050
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	BCL3	chr4:8182148-8182928	GM12878	blood:	n/a	n/a
2	BCL3	chr4:8182619-8183005	GM12878	blood:	n/a	n/a
3	BRCA1	chr4:8181830-8182164	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr4:8183533-8183789	Hela-S3	cervix:	n/a	n/a
5	CCNT2	chr4:8183632-8183825	K562	blood:	n/a	chr4:8183711-8183720 chr4:8183655-8183675
6	CEBPB	chr4:8183577-8183817	Hela-S3	cervix:	n/a	chr4:8183741-8183749
7	CHD2	chr4:8183461-8184065	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr4:8181740-8181890	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr4:8181653-8181805	HepG2	liver:	n/a	n/a
10	CTCF	chr4:8182791-8182851	GM19239	blood:	n/a	n/a
11	CTCF	chr4:8181660-8181810	HepG2	liver:	n/a	n/a
12	FOS	chr4:8182026-8182538	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
13	FOS	chr4:8182089-8182392	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
14	FOS	chr4:8182038-8182627	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
15	GATA3	chr4:8183588-8183886	MCF-7	breast:	n/a	chr4:8183661-8183677 chr4:8183655-8183672 chr4:8183664-8183673 chr4:8183663-8183675 chr4:8183664-8183674
16	GATA3	chr4:8183460-8183961	MCF-7	breast:	n/a	chr4:8183661-8183677 chr4:8183655-8183672 chr4:8183664-8183673 chr4:8183663-8183675 chr4:8183664-8183674
17	GTF2F1	chr4:8183644-8183844	Hela-S3	cervix:	n/a	n/a
18	HMGN3	chr4:8181528-8181599	K562	blood:	n/a	n/a
19	MAFK	chr4:8182059-8182349	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr4:8184044-8184244	Hela-S3	cervix:	n/a	n/a
21	MAFK	chr4:8183372-8183825	Hela-S3	cervix:	n/a	n/a
22	MAX	chr4:8182424-8182899	NB4	blood:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
23	MAX	chr4:8182107-8182212	Hela-S3	cervix:	n/a	n/a
24	MAX	chr4:8182406-8182639	H1-hESC	embryonic stem cell:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
25	MAX	chr4:8183749-8183862	K562	blood:	n/a	n/a
26	MAX	chr4:8183556-8184255	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr4:8183546-8184159	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr4:8183503-8183758	K562	blood:	n/a	n/a
29	MXI1	chr4:8183525-8183897	Hela-S3	cervix:	n/a	n/a
30	MYC	chr4:8182596-8182635	NB4	blood:	n/a	chr4:8182603-8182613 chr4:8182615-8182625
31	MYC	chr4:8182152-8182543	MCF10A-Er-Src	breast:	n/a	n/a
32	NFATC1	chr4:8182540-8182957	GM12878	blood:	n/a	n/a
33	NFATC1	chr4:8182143-8182934	GM12878	blood:	n/a	n/a
34	NFIC	chr4:8181621-8182123	ECC-1	luminal epithelium:	n/a	n/a
35	NFYA	chr4:8183502-8184011	Hela-S3	cervix:	n/a	chr4:8183740-8183750
36	NR2F2	chr4:8183508-8184059	MCF-7	breast:	n/a	n/a
37	NR2F2	chr4:8183474-8183894	MCF-7	breast:	n/a	n/a
38	PBX3	chr4:8182767-8182908	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:8183560-8183981	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:8184004-8184164	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr4:8183470-8183924	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:8182107-8182188	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:8182597-8182779	MCF10A-Er-Src	breast:	n/a	n/a
44	PRDM1	chr4:8182125-8182309	Hela-S3	cervix:	n/a	chr4:8182206-8182221
45	PRDM1	chr4:8183608-8183786	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr4:8183568-8183856	Hela-S3	cervix:	n/a	chr4:8183724-8183737
47	RCOR1	chr4:8183251-8184362	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr4:8183555-8183805	K562	blood:	n/a	n/a
49	RFX5	chr4:8183532-8183893	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr4:8181911-8182106	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
2	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:
3	chr4:8179293..8181973-chr4:8183474..8185384,4	MCF-7	breast:
4	chr4:8179921..8181904-chr4:8189631..8192248,3	MCF-7	breast:
5	chr4:8158932..8160891-chr4:8178387..8181198,2	MCF-7	breast:
6	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:
7	chr4:8181018..8183687-chr4:8185277..8188138,2	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	chromatin interactions
ENSG00000163995	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540085404	chr4:8181164-8181165	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189938056	chr4:8181192-8181193	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573894452	chr4:8181209-8181210	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574636967	chr4:8181330-8181331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116341467	chr4:8181395-8181396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73800413	chr4:8181433-8181434	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs61366997	chr4:8181440-8181441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560315014	chr4:8181454-8181455	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527883304	chr4:8181489-8181490	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76181303	chr4:8181525-8181526	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535119521	chr4:8181535-8181536	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567907769	chr4:8181543-8181544	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138011107	chr4:8181547-8181548	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143568385	chr4:8181580-8181581	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370868507	chr4:8181619-8181620	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183267978	chr4:8181628-8181629	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372902769	chr4:8181637-8181638	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571324917	chr4:8181657-8181658	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147169644	chr4:8181672-8181673	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138602691	chr4:8181685-8181686	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566090044	chr4:8181686-8181687	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533983428	chr4:8181707-8181708	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555282921	chr4:8181735-8181736	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573835409	chr4:8181762-8181763	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186460671	chr4:8181783-8181784	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190450814	chr4:8181807-8181808	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs114595565	chr4:8181833-8181834	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539226353	chr4:8181840-8181841	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs183027211	chr4:8181871-8181872	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141162104	chr4:8181882-8181883	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188819104	chr4:8181942-8181943	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543158689	chr4:8181945-8181946	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561343798	chr4:8181972-8181973	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs56318069	chr4:8182002-8182003	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192646247	chr4:8182007-8182008	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs565265989	chr4:8182049-8182050	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs532368961	chr4:8182056-8182057	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs150789334	chr4:8182066-8182067	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs566125758	chr4:8182097-8182098	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs536353164	chr4:8182122-8182123	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs183371096	chr4:8182141-8182142	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs567331574	chr4:8182146-8182147	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538063558	chr4:8182170-8182171	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370817212	chr4:8182172-8182173	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs139218767	chr4:8182192-8182193	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535390523	chr4:8182204-8182205	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs538597957	chr4:8182206-8182207	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs187502310	chr4:8182213-8182214	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572077459	chr4:8182218-8182219	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs541524653	chr4:8182262-8182263	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8172400-8181600	Weak transcription	Esophagus	oesophagus
3	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
4	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:8178800-8182200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8179000-8181600	Weak transcription	Stomach Mucosa	stomach
7	chr4:8179000-8181800	Weak transcription	Right Ventricle	heart
8	chr4:8179000-8182400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:8179000-8182800	Weak transcription	Pancreas	Pancrea
10	chr4:8179200-8182200	Weak transcription	Fetal Heart	heart
11	chr4:8179200-8182800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:8179200-8183200	Weak transcription	Left Ventricle	heart
13	chr4:8179200-8183400	Weak transcription	Thymus	Thymus
14	chr4:8179400-8181600	Weak transcription	Hela-S3	cervix
15	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:8179800-8181600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:8179800-8181600	Weak transcription	Spleen	Spleen
18	chr4:8179800-8182400	Weak transcription	Fetal Kidney	kidney
19	chr4:8179800-8183000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:8180000-8182600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8180800-8181200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:8181000-8181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:8181000-8182400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:8181200-8182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:8181400-8182000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:8181600-8181800	Enhancers	Esophagus	oesophagus
27	chr4:8181600-8182000	Active TSS	Spleen	Spleen
28	chr4:8181600-8182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:8181600-8183400	Enhancers	Hela-S3	cervix
30	chr4:8181600-8186000	Enhancers	Stomach Mucosa	stomach
31	chr4:8181800-8182000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr4:8181800-8182000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr4:8181800-8182200	Weak transcription	Esophagus	oesophagus
34	chr4:8181800-8184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:8181800-8186400	Enhancers	Right Ventricle	heart
36	chr4:8182000-8182400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:8182000-8183400	Weak transcription	Spleen	Spleen
38	chr4:8182000-8183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:8182200-8182400	Enhancers	A549	lung
40	chr4:8182200-8182800	Enhancers	HMEC	breast
41	chr4:8182200-8183000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:8182200-8184000	Enhancers	Esophagus	oesophagus
43	chr4:8182200-8185400	Enhancers	Fetal Heart	heart
44	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:8182400-8182600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:8182400-8182800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:8182400-8182800	Enhancers	NHEK	skin
48	chr4:8182400-8183000	ZNF genes & repeats	Fetal Kidney	kidney
49	chr4:8182400-8183400	Weak transcription	A549	lung
50	chr4:8182400-8183600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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