Variant report

Variant	esv3366153
Chromosome Location	chr4:7118551-7122149
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	ATF3	chr4:7122098-7122348	K562	blood:	n/a	n/a
2	CHD2	chr4:7122140-7122405	K562	blood:	n/a	n/a
3	CHD2	chr4:7122096-7122393	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr4:7120193-7120363	K562	blood:	n/a	n/a
5	EP300	chr4:7122082-7122378	K562	blood:	n/a	n/a
6	FOS	chr4:7122044-7122418	K562	blood:	n/a	n/a
7	IRF1	chr4:7122124-7122424	K562	blood:	n/a	n/a
8	MYC	chr4:7121893-7122223	K562	blood:	n/a	n/a
9	NFYA	chr4:7121956-7122580	K562	blood:	n/a	chr4:7122216-7122234
10	NFYA	chr4:7122039-7122442	Hela-S3	cervix:	n/a	chr4:7122216-7122234
11	NFYB	chr4:7122015-7122469	Hela-S3	cervix:	n/a	chr4:7122222-7122237
12	NFYB	chr4:7121909-7122475	GM12878	blood:	n/a	chr4:7122222-7122237
13	NFYB	chr4:7121953-7122650	K562	blood:	n/a	chr4:7122222-7122237
14	POLR2A	chr4:7118787-7119028	K562	blood:	n/a	n/a
15	POLR2A	chr4:7122069-7122244	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:7119288-7119629	K562	blood:	n/a	n/a
17	RFX5	chr4:7121881-7122792	SK-N-SH	brain:	n/a	chr4:7122277-7122292
18	SP1	chr4:7122018-7122509	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr4:7122100-7122427	K562	blood:	n/a	n/a
20	SP1	chr4:7122027-7122493	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP1	chr4:7122027-7122483	A549	lung:	n/a	n/a
22	SP1	chr4:7122061-7122484	GM12878	blood:	n/a	n/a
23	SP1	chr4:7122000-7122484	A549	lung:	n/a	n/a
24	SP1	chr4:7122063-7122367	GM12878	blood:	n/a	n/a
25	SP2	chr4:7122052-7122438	K562	blood:	n/a	n/a
26	USF1	chr4:7122087-7122439	H1-hESC	embryonic stem cell:	n/a	chr4:7122239-7122250
27	USF1	chr4:7122080-7122457	SK-N-SH	brain:	n/a	chr4:7122239-7122250
28	USF1	chr4:7122037-7122330	A549	lung:	n/a	chr4:7122239-7122250
29	USF1	chr4:7122047-7122371	SK-N-SH_RA	brain:	n/a	chr4:7122239-7122250
30	USF1	chr4:7122139-7122358	HepG2	liver:	n/a	chr4:7122239-7122250
31	USF1	chr4:7122119-7122455	A549	lung:	n/a	chr4:7122239-7122250
32	USF1	chr4:7122067-7122396	SK-N-SH_RA	brain:	n/a	chr4:7122239-7122250
33	USF1	chr4:7121997-7122511	ECC-1	luminal epithelium:	n/a	chr4:7122239-7122250
34	USF1	chr4:7122006-7122468	ECC-1	luminal epithelium:	n/a	chr4:7122239-7122250
35	USF1	chr4:7122026-7122475	H1-hESC	embryonic stem cell:	n/a	chr4:7122239-7122250
36	USF1	chr4:7122002-7122547	HCT-116	colon:	n/a	chr4:7122239-7122250
37	USF1	chr4:7122065-7122421	A549	lung:	n/a	chr4:7122239-7122250
38	USF1	chr4:7122005-7122396	K562	blood:	n/a	chr4:7122239-7122250
39	USF1	chr4:7121982-7122548	HCT-116	colon:	n/a	chr4:7122239-7122250
40	USF1	chr4:7122127-7122322	A549	lung:	n/a	chr4:7122239-7122250
41	USF1	chr4:7122011-7122418	K562	blood:	n/a	chr4:7122239-7122250
42	USF1	chr4:7122138-7122330	A549	lung:	n/a	chr4:7122239-7122250
43	USF2	chr4:7122060-7122432	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF2	chr4:7122142-7122307	Hela-S3	cervix:	n/a	n/a
45	USF2	chr4:7122110-7122340	HepG2	liver:	n/a	n/a
46	ZNF143	chr4:7122043-7122225	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
2	chr4:7103610..7105955-chr4:7121635..7124295,2	K562	blood:
3	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
4	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
5	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
6	chr4:7114517..7116267-chr4:7117721..7119678,2	K562	blood:

Variant related genes	Relation type
RN7SKP36	TF binding region
ENSG00000245468	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181165649	chr4:7118579-7118580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372504747	chr4:7118598-7118599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541301506	chr4:7118620-7118621	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs376743053	chr4:7118627-7118628	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs115313552	chr4:7118639-7118640	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs529258072	chr4:7118697-7118698	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs545196267	chr4:7118700-7118701	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs554013669	chr4:7118710-7118711	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs550524384	chr4:7118730-7118731	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs147248976	chr4:7118782-7118783	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs542948589	chr4:7118792-7118793	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113256356	chr4:7118795-7118796	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531758785	chr4:7118807-7118808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3931345	chr4:7118808-7118809	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs34925949	chr4:7118809-7118810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565002083	chr4:7118829-7118830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186161333	chr4:7118837-7118838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547535529	chr4:7118854-7118855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34163323	chr4:7118864-7118865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs78475968	chr4:7118871-7118872	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs116119446	chr4:7118872-7118873	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551846137	chr4:7118902-7118903	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111821493	chr4:7118920-7118921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190478159	chr4:7118931-7118932	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142457512	chr4:7118938-7118939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs80102498	chr4:7119010-7119011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567177628	chr4:7119037-7119038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183381906	chr4:7119056-7119057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567002684	chr4:7119075-7119076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62291204	chr4:7119082-7119083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572251031	chr4:7119096-7119097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555796841	chr4:7119147-7119148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567926473	chr4:7119160-7119161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537863757	chr4:7119178-7119179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542535561	chr4:7119222-7119223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554881569	chr4:7119228-7119229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556223064	chr4:7119230-7119231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112958368	chr4:7119263-7119264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56089627	chr4:7119283-7119284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543770230	chr4:7119284-7119285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140531051	chr4:7119301-7119302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113479033	chr4:7119420-7119421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553827520	chr4:7119434-7119435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150036882	chr4:7119435-7119436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530355416	chr4:7119450-7119451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548515045	chr4:7119475-7119476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113308168	chr4:7119493-7119494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386671152	chr4:7119514-7119515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112955167	chr4:7119515-7119516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56396760	chr4:7119516-7119517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7114200-7122000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7114800-7121000	Weak transcription	Spleen	Spleen
4	chr4:7117800-7133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7118600-7118800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:7121000-7124400	Enhancers	Spleen	Spleen
7	chr4:7121600-7121800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:7122000-7122200	Bivalent/Poised TSS	K562	blood
9	chr4:7122000-7124800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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