Variant report

Variant	esv3325572
Chromosome Location	chr4:8182366-8182591
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	FOS	chr4:8182089-8182392	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
3	FOS	chr4:8182026-8182538	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
4	FOS	chr4:8182038-8182627	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
5	MAX	chr4:8182424-8182899	NB4	blood:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
6	MAX	chr4:8182406-8182639	H1-hESC	embryonic stem cell:	n/a	chr4:8182603-8182613 chr4:8182583-8182593 chr4:8182615-8182625
7	MYC	chr4:8182152-8182543	MCF10A-Er-Src	breast:	n/a	n/a
8	NFATC1	chr4:8182540-8182957	GM12878	blood:	n/a	n/a
9	NFATC1	chr4:8182143-8182934	GM12878	blood:	n/a	n/a
10	STAT3	chr4:8182582-8182585	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr4:8181965-8182397	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr4:8182089-8182598	MCF10A-Er-Src	breast:	n/a	n/a
13	SUZ12	chr4:8182429-8182861	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr4:8182098-8182407	ECC-1	luminal epithelium:	n/a	n/a
15	USF2	chr4:8182078-8182423	Hela-S3	cervix:	n/a	chr4:8182239-8182250 chr4:8182263-8182274

No.	Distal block	Cell Line	Cell type
1	chr4:8181018..8183687-chr4:8185277..8188138,2	MCF-7	breast:
2	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
3	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:
4	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:

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

Extended variants
information (count: 37 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189319609	chr4:8182368-8182369	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547342275	chr4:8182380-8182381	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374459226	chr4:8182386-8182387	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559511464	chr4:8182393-8182394	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs13151381	chr4:8182398-8182399	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192674554	chr4:8182416-8182417	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548369934	chr4:8182418-8182419	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs377387998	chr4:8182436-8182437	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs371032525	chr4:8182438-8182439	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531523562	chr4:8182444-8182445	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542213200	chr4:8182446-8182447	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4696673	chr4:8182458-8182459	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149525351	chr4:8182461-8182462	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146167283	chr4:8182463-8182464	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200219065	chr4:8182468-8182469	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs67499572	chr4:8182469-8182470	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs374625563	chr4:8182470-8182471	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571520648	chr4:8182474-8182475	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566060501	chr4:8182475-8182476	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11267994	chr4:8182486-8182487	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs73218502	chr4:8182487-8182488	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374212240	chr4:8182489-8182490	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs370780397	chr4:8182492-8182493	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377671168	chr4:8182499-8182500	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375181584	chr4:8182503-8182504	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553694288	chr4:8182504-8182505	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368602344	chr4:8182510-8182511	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371907971	chr4:8182518-8182519	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375572942	chr4:8182520-8182521	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565525523	chr4:8182528-8182529	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371887369	chr4:8182529-8182530	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs200836920	chr4:8182542-8182543	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372683092	chr4:8182549-8182550	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs28606477	chr4:8182550-8182551	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs553384747	chr4:8182556-8182557	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs28570403	chr4:8182559-8182560	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575773706	chr4:8182574-8182575	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
3	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:8179000-8182400	Weak transcription	Fetal Intestine Small	intestine
5	chr4:8179000-8182800	Weak transcription	Pancreas	Pancrea
6	chr4:8179200-8182800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:8179200-8183200	Weak transcription	Left Ventricle	heart
8	chr4:8179200-8183400	Weak transcription	Thymus	Thymus
9	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:8179800-8182400	Weak transcription	Fetal Kidney	kidney
11	chr4:8179800-8183000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:8180000-8182600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:8181000-8182400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:8181200-8182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:8181600-8182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:8181600-8183400	Enhancers	Hela-S3	cervix
17	chr4:8181600-8186000	Enhancers	Stomach Mucosa	stomach
18	chr4:8181800-8184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8181800-8186400	Enhancers	Right Ventricle	heart
20	chr4:8182000-8182400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:8182000-8183400	Weak transcription	Spleen	Spleen
22	chr4:8182000-8183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:8182200-8182400	Enhancers	A549	lung
24	chr4:8182200-8182800	Enhancers	HMEC	breast
25	chr4:8182200-8183000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8182200-8184000	Enhancers	Esophagus	oesophagus
27	chr4:8182200-8185400	Enhancers	Fetal Heart	heart
28	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:8182400-8182600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr4:8182400-8182800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:8182400-8182800	Enhancers	NHEK	skin
32	chr4:8182400-8183000	ZNF genes & repeats	Fetal Kidney	kidney
33	chr4:8182400-8183400	Weak transcription	A549	lung
34	chr4:8182400-8183600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:8182400-8185200	Enhancers	Gastric	stomach
36	chr4:8182400-8185600	Enhancers	Fetal Intestine Small	intestine
37	chr4:8182400-8189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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