Variant report

Variant	esv1797770
Chromosome Location	chr4:74645716-74660393
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	CEBPB	chr4:74650823-74650977	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:74646568-74646704	HepG2	liver:	n/a	chr4:74646632-74646643 chr4:74646630-74646641 chr4:74646632-74646641 chr4:74646630-74646643
3	CHD1	chr4:74648722-74648747	GM12878	blood:	n/a	n/a
4	FOS	chr4:74651465-74651478	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr4:74651268-74651613	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr4:74651283-74651746	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr4:74651260-74651743	SK-N-SH	brain:	n/a	n/a
8	IRF1	chr4:74656593-74656742	K562	blood:	n/a	n/a
9	JUND	chr4:74651257-74651676	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr4:74651236-74651708	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr4:74651257-74651622	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr4:74651263-74651611	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr4:74651253-74651715	SK-N-SH	brain:	n/a	n/a
14	YY1	chr4:74651312-74651573	SK-N-SH_RA	brain:	n/a	n/a
15	ZNF263	chr4:74653682-74654405	HEK293-T-REx	kidney:	n/a	chr4:74653959-74653980 chr4:74654028-74654049

No.	Distal block	Cell Line	Cell type
1	chr4:74645799..74647347-chr4:74650995..74652534,2	K562	blood:
2	chr4:74548490..74550703-chr4:74648788..74651649,2	K562	blood:
3	chr4:74646058..74648383-chr4:74648507..74650291,2	K562	blood:
4	chr4:74620363..74622563-chr4:74652103..74654491,2	K562	blood:
5	chr4:74646058..74648383-chr4:74648507..74650291,2	K562	blood:
6	chr4:74645799..74647347-chr4:74650995..74652534,2	K562	blood:

Variant related genes	Relation type
ENSG00000249051	TF binding region

Extended variants
information (count: 171 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs7668660	chr4:74645716-74645717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563611308	chr4:74645738-74645739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180997964	chr4:74645750-74645751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549452986	chr4:74645773-74645774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185113219	chr4:74645784-74645785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535715584	chr4:74645803-74645804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568608426	chr4:74645810-74645811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190783296	chr4:74645852-74645853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546661624	chr4:74645875-74645876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571383050	chr4:74645876-74645877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538612540	chr4:74645929-74645930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568357734	chr4:74645955-74645956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28833215	chr4:74646006-74646007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75079591	chr4:74646015-74646016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72650824	chr4:74646061-74646062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116215993	chr4:74646086-74646087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539585806	chr4:74646169-74646170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143137615	chr4:74646175-74646176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533814761	chr4:74646190-74646191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558871604	chr4:74646197-74646198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77722254	chr4:74646225-74646226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115368816	chr4:74646247-74646248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2224434	chr4:74646315-74646316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs544961648	chr4:74646371-74646372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148258103	chr4:74646394-74646395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184111539	chr4:74646396-74646397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554055089	chr4:74646419-74646420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565888640	chr4:74646459-74646460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561462151	chr4:74646464-74646465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528653761	chr4:74646487-74646488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546902513	chr4:74646506-74646507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141257642	chr4:74646507-74646508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75611546	chr4:74646515-74646516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539867830	chr4:74646549-74646550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550733618	chr4:74646565-74646566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555751748	chr4:74646601-74646602	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2145617	chr4:74646615-74646616	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs186690619	chr4:74646643-74646644	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs13149816	chr4:74646674-74646675	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374802222	chr4:74646745-74646746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150806043	chr4:74646781-74646782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115354673	chr4:74646806-74646807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576668944	chr4:74646816-74646817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538743877	chr4:74646823-74646824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs118009110	chr4:74646843-74646844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138189014	chr4:74646845-74646846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192000878	chr4:74646852-74646853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77386641	chr4:74646859-74646860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113487530	chr4:74646917-74646918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561600675	chr4:74646918-74646919	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74637200-74646400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:74646400-74647000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr4:74646400-74647000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:74646800-74647400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:74653200-74655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:74654000-74654800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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