Variant report

Variant	nsv522208
Chromosome Location	chr4:92241587-92283771
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	BATF	chr4:92279590-92279870	GM12878	blood:	n/a	n/a
2	BATF	chr4:92246684-92246980	GM12878	blood:	n/a	n/a
3	BATF	chr4:92246616-92246958	GM12878	blood:	n/a	n/a
4	BATF	chr4:92279593-92279805	GM12878	blood:	n/a	n/a
5	BATF	chr4:92280369-92280568	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:92279611-92279846	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:92264987-92264999	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:92272244-92272571	IMR90	lung:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
9	CEBPB	chr4:92258443-92258660	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:92272267-92272556	HepG2	liver:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
11	CEBPB	chr4:92272250-92272485	K562	blood:	n/a	chr4:92272388-92272399 chr4:92272386-92272399 chr4:92272386-92272397 chr4:92272388-92272397
12	CEBPB	chr4:92260282-92260576	HepG2	liver:	n/a	chr4:92260436-92260447
13	CHD2	chr4:92258506-92258507	GM12878	blood:	n/a	n/a
14	CTCF	chr4:92247623-92247698	GM13976	blood:	n/a	n/a
15	CTCF	chr4:92280494-92280526	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr4:92263350-92263410	Medullo	brain:	n/a	n/a
17	CTCF	chr4:92278078-92278131	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr4:92247480-92247630	GM12874	blood:	n/a	n/a
19	CTCF	chr4:92271120-92271270	AoAF	blood vessel:	n/a	n/a
20	E2F4	chr4:92259567-92259767	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr4:92274005-92274091	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr4:92254085-92254285	GM12878	blood:	n/a	chr4:92254154-92254165
23	EBF1	chr4:92283345-92283373	GM12878	blood:	n/a	n/a
24	EBF1	chr4:92279631-92279782	GM12878	blood:	n/a	n/a
25	EBF1	chr4:92279638-92279924	GM12878	blood:	n/a	n/a
26	EBF1	chr4:92269540-92269661	GM12878	blood:	n/a	n/a
27	EBF1	chr4:92266985-92267004	GM12878	blood:	n/a	n/a
28	EP300	chr4:92258670-92258840	GM12878	blood:	n/a	chr4:92258752-92258766
29	EP300	chr4:92246620-92246949	SK-N-SH_RA	brain:	n/a	chr4:92246898-92246912
30	EP300	chr4:92280162-92280549	GM12878	blood:	n/a	n/a
31	EP300	chr4:92246505-92247133	SK-N-SH	brain:	n/a	chr4:92246526-92246533 chr4:92246898-92246912
32	EP300	chr4:92246540-92246754	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr4:92280538-92280725	GM12878	blood:	n/a	n/a
34	ESR1	chr4:92246589-92246957	ECC-1	luminal epithelium:	n/a	n/a
35	FOS	chr4:92246676-92247017	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:92251930-92252285	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr4:92246734-92247049	HUVEC	blood vessel:	n/a	n/a
38	FOS	chr4:92246671-92247017	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr4:92251940-92252272	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr4:92246689-92247009	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:92246688-92246996	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:92251930-92252300	MCF10A-Er-Src	breast:	n/a	n/a
43	FOSL2	chr4:92246687-92247125	SK-N-SH	brain:	n/a	n/a
44	FOSL2	chr4:92251826-92252389	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr4:92258710-92259254	SK-N-SH	brain:	n/a	chr4:92259012-92259028
46	GATA3	chr4:92241765-92242135	MCF-7	breast:	n/a	chr4:92241934-92241941 chr4:92241927-92241948 chr4:92241933-92241943 chr4:92241934-92241941 chr4:92241930-92241946 chr4:92241934-92241941
47	GATA3	chr4:92241781-92242096	T-47D	breast:	n/a	chr4:92241934-92241941 chr4:92241927-92241948 chr4:92241933-92241943 chr4:92241934-92241941 chr4:92241930-92241946 chr4:92241934-92241941
48	GATA3	chr4:92258717-92259340	SK-N-SH	brain:	n/a	chr4:92259012-92259028
49	GATA3	chr4:92246366-92247212	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr4:92264822-92264999	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:92228930..92230474-chr4:92239556..92242007,2	K562	blood:
2	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:
3	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
4	chr4:92256031..92258951-chr4:92265643..92267671,2	MCF-7	breast:
5	chr4:92249209..92252138-chr4:92252795..92255607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249049	TF binding region

Extended variants
information (count: 420 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1528580	chr4:92241587-92241588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554362411	chr4:92241621-92241622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34853891	chr4:92241624-92241625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543015503	chr4:92241642-92241643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576674649	chr4:92241668-92241669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545334141	chr4:92241684-92241685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565490237	chr4:92241774-92241775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572647116	chr4:92241780-92241781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542271658	chr4:92246206-92246207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561957576	chr4:92246207-92246208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191533881	chr4:92246214-92246215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181224160	chr4:92246335-92246336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371255259	chr4:92246340-92246341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3762827	chr4:92246344-92246345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185335662	chr4:92246367-92246368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566683311	chr4:92246396-92246397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190590693	chr4:92246441-92246442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367597047	chr4:92246442-92246443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182726242	chr4:92246504-92246505	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs116294821	chr4:92246522-92246523	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1528572	chr4:92246541-92246542	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs3762829	chr4:92246547-92246548	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187800901	chr4:92246577-92246578	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145771843	chr4:92246605-92246606	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1528573	chr4:92246681-92246682	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1528574	chr4:92246693-92246694	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541639216	chr4:92246706-92246707	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548396852	chr4:92246711-92246712	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1528575	chr4:92246811-92246812	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191942507	chr4:92246821-92246822	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116072522	chr4:92246884-92246885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs35664066	chr4:92246897-92246898	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564094223	chr4:92246967-92246968	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs549463415	chr4:92246977-92246978	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533455376	chr4:92246993-92246994	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs1528576	chr4:92247051-92247052	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1528577	chr4:92247095-92247096	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140624423	chr4:92247119-92247120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs10718334	chr4:92247138-92247139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs1528578	chr4:92247173-92247174	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536420824	chr4:92247230-92247231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2178222	chr4:92247337-92247338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145682148	chr4:92247357-92247358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs138256643	chr4:92247368-92247369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552887465	chr4:92247369-92247370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs1969532	chr4:92247487-92247488	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539768488	chr4:92247537-92247538	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376841461	chr4:92247542-92247543	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142760661	chr4:92247607-92247608	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs143394817	chr4:92247615-92247616	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92241200-92241800	Enhancers	Brain Germinal Matrix	brain
2	chr4:92246200-92246800	Enhancers	NH-A	brain
3	chr4:92246200-92247000	Enhancers	HUVEC	blood vessel
4	chr4:92247400-92248600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr4:92247800-92248800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr4:92247800-92249200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:92248000-92248400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:92248000-92248400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr4:92248000-92248400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr4:92248000-92248600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:92248600-92249000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr4:92251800-92252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:92252000-92252400	Enhancers	NH-A	brain
14	chr4:92276400-92279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:92279800-92280200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:92279800-92280200	Enhancers	Pancreas	Pancrea
17	chr4:92279800-92281000	Enhancers	Rectal Mucosa Donor 31	rectum

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