Variant report

Variant	esv3401563
Chromosome Location	chr4:7118151-7122649
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	chr4:7122096-7122393	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr4:7122140-7122405	K562	blood:	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	GTF2F1	chr4:7122459-7122546	K562	blood:	n/a	n/a
8	IRF1	chr4:7122124-7122424	K562	blood:	n/a	n/a
9	JUND	chr4:7122193-7122387	K562	blood:	n/a	n/a
10	MAX	chr4:7122290-7122418	A549	lung:	n/a	n/a
11	MAX	chr4:7122191-7122467	NB4	blood:	n/a	n/a
12	MYC	chr4:7121893-7122223	K562	blood:	n/a	n/a
13	NFYA	chr4:7122039-7122442	Hela-S3	cervix:	n/a	chr4:7122216-7122234
14	NFYA	chr4:7121956-7122580	K562	blood:	n/a	chr4:7122216-7122234
15	NFYB	chr4:7122015-7122469	Hela-S3	cervix:	n/a	chr4:7122222-7122237
16	NFYB	chr4:7121909-7122475	GM12878	blood:	n/a	chr4:7122222-7122237
17	NFYB	chr4:7121953-7122650	K562	blood:	n/a	chr4:7122222-7122237
18	POLR2A	chr4:7122069-7122244	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:7118787-7119028	K562	blood:	n/a	n/a
20	POLR2A	chr4:7119288-7119629	K562	blood:	n/a	n/a
21	RCOR1	chr4:7122404-7122691	K562	blood:	n/a	n/a
22	RFX5	chr4:7121881-7122792	SK-N-SH	brain:	n/a	chr4:7122277-7122292
23	RFX5	chr4:7122195-7122394	H1-hESC	embryonic stem cell:	n/a	chr4:7122277-7122292
24	RFX5	chr4:7122255-7122407	HepG2	liver:	n/a	chr4:7122277-7122292
25	RFX5	chr4:7122156-7122356	K562	blood:	n/a	chr4:7122277-7122292
26	SP1	chr4:7122027-7122493	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr4:7122000-7122484	A549	lung:	n/a	n/a
28	SP1	chr4:7122100-7122427	K562	blood:	n/a	n/a
29	SP1	chr4:7122018-7122509	H1-hESC	embryonic stem cell:	n/a	n/a
30	SP1	chr4:7122063-7122367	GM12878	blood:	n/a	n/a
31	SP1	chr4:7122061-7122484	GM12878	blood:	n/a	n/a
32	SP1	chr4:7122027-7122483	A549	lung:	n/a	n/a
33	SP2	chr4:7122174-7122353	K562	blood:	n/a	n/a
34	SP2	chr4:7122052-7122438	K562	blood:	n/a	n/a
35	TBP	chr4:7122255-7122374	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr4:7122196-7122341	K562	blood:	n/a	n/a
37	USF1	chr4:7122138-7122330	A549	lung:	n/a	chr4:7122239-7122250
38	USF1	chr4:7122087-7122439	H1-hESC	embryonic stem cell:	n/a	chr4:7122239-7122250
39	USF1	chr4:7122139-7122358	HepG2	liver:	n/a	chr4:7122239-7122250
40	USF1	chr4:7122026-7122475	H1-hESC	embryonic stem cell:	n/a	chr4:7122239-7122250
41	USF1	chr4:7121997-7122511	ECC-1	luminal epithelium:	n/a	chr4:7122239-7122250
42	USF1	chr4:7121982-7122548	HCT-116	colon:	n/a	chr4:7122239-7122250
43	USF1	chr4:7122171-7122325	HepG2	liver:	n/a	chr4:7122239-7122250
44	USF1	chr4:7122065-7122421	A549	lung:	n/a	chr4:7122239-7122250
45	USF1	chr4:7122119-7122455	A549	lung:	n/a	chr4:7122239-7122250
46	USF1	chr4:7122080-7122457	SK-N-SH	brain:	n/a	chr4:7122239-7122250
47	USF1	chr4:7122047-7122371	SK-N-SH_RA	brain:	n/a	chr4:7122239-7122250
48	USF1	chr4:7122002-7122547	HCT-116	colon:	n/a	chr4:7122239-7122250
49	USF1	chr4:7122011-7122418	K562	blood:	n/a	chr4:7122239-7122250
50	USF1	chr4:7122037-7122330	A549	lung:	n/a	chr4:7122239-7122250

No.	Distal block	Cell Line	Cell type
1	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
2	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
3	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
4	chr4:7103610..7105955-chr4:7121635..7124295,2	K562	blood:
5	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
6	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
7	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: 188 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs369133579	chr4:7118160-7118161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145333496	chr4:7118178-7118179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573616614	chr4:7118195-7118196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574650224	chr4:7118198-7118199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11938272	chr4:7118207-7118208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188599239	chr4:7118233-7118234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73077716	chr4:7118269-7118270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545310307	chr4:7118270-7118271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs41486548	chr4:7118314-7118315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527606031	chr4:7118340-7118341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542609701	chr4:7118341-7118342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561342897	chr4:7118354-7118355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531702163	chr4:7118359-7118360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114406240	chr4:7118386-7118387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550296124	chr4:7118388-7118389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35320981	chr4:7118415-7118416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532600042	chr4:7118434-7118435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534601554	chr4:7118462-7118463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547598324	chr4:7118471-7118472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566002051	chr4:7118482-7118483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16835121	chr4:7118488-7118489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555061871	chr4:7118510-7118511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11938388	chr4:7118527-7118528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs181165649	chr4:7118579-7118580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372504747	chr4:7118598-7118599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541301506	chr4:7118620-7118621	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs376743053	chr4:7118627-7118628	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs115313552	chr4:7118639-7118640	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs529258072	chr4:7118697-7118698	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs545196267	chr4:7118700-7118701	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs554013669	chr4:7118710-7118711	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs550524384	chr4:7118730-7118731	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs147248976	chr4:7118782-7118783	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs542948589	chr4:7118792-7118793	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113256356	chr4:7118795-7118796	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531758785	chr4:7118807-7118808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3931345	chr4:7118808-7118809	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs34925949	chr4:7118809-7118810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565002083	chr4:7118829-7118830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186161333	chr4:7118837-7118838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547535529	chr4:7118854-7118855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs34163323	chr4:7118864-7118865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78475968	chr4:7118871-7118872	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs116119446	chr4:7118872-7118873	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551846137	chr4:7118902-7118903	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111821493	chr4:7118920-7118921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190478159	chr4:7118931-7118932	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142457512	chr4:7118938-7118939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs80102498	chr4:7119010-7119011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567177628	chr4:7119037-7119038	Weak transcription	n/a	n/a	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
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:15 , 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
10	chr4:7122200-7122400	Bivalent Enhancer	K562	blood
11	chr4:7122600-7123000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:7122600-7123200	Enhancers	Stomach Smooth Muscle	stomach
13	chr4:7122600-7123800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:7122600-7123800	Enhancers	Fetal Muscle Trunk	muscle
15	chr4:7122600-7123800	Enhancers	Lung	lung

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