Variant report

Variant	nsv437941
Chromosome Location	chr4:144285683-144295952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:144293374-144294131	GM12878	blood:	n/a	n/a
2	ATF2	chr4:144293283-144294071	GM12878	blood:	n/a	n/a
3	BATF	chr4:144293442-144294070	GM12878	blood:	n/a	chr4:144293727-144293738
4	BATF	chr4:144293469-144293997	GM12878	blood:	n/a	chr4:144293727-144293738
5	BCL11A	chr4:144293593-144293987	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:144293420-144294104	GM12878	blood:	n/a	n/a
7	BCL3	chr4:144293534-144294035	GM12878	blood:	n/a	n/a
8	BCLAF1	chr4:144293417-144294065	GM12878	blood:	n/a	n/a
9	BCLAF1	chr4:144293238-144294109	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:144293281-144294215	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:144295414-144295437	K562	blood:	n/a	n/a
12	CEBPB	chr4:144291986-144292321	A549	lung:	n/a	chr4:144292145-144292156
13	CEBPB	chr4:144292998-144294244	GM12878	blood:	n/a	n/a
14	CEBPB	chr4:144291964-144292167	IMR90	lung:	n/a	chr4:144292145-144292156
15	CEBPB	chr4:144291985-144292186	HepG2	liver:	n/a	chr4:144292145-144292156
16	CEBPB	chr4:144291988-144292177	K562	blood:	n/a	chr4:144292145-144292156
17	CHD1	chr4:144293294-144294050	GM12878	blood:	n/a	n/a
18	CHD2	chr4:144293364-144294164	GM12878	blood:	n/a	n/a
19	CREB1	chr4:144293375-144294035	GM12878	blood:	n/a	n/a
20	CTCF	chr4:144293650-144293945	GM12878	blood:	n/a	n/a
21	CUX1	chr4:144293635-144294126	GM12878	blood:	n/a	n/a
22	CUX1	chr4:144293167-144293265	GM12878	blood:	n/a	n/a
23	E2F4	chr4:144290628-144290739	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr4:144293163-144294140	GM12878	blood:	n/a	n/a
25	EBF1	chr4:144293071-144293372	GM12878	blood:	n/a	n/a
26	ELK1	chr4:144293611-144293972	GM12878	blood:	n/a	n/a
27	EP300	chr4:144294475-144294570	K562	blood:	n/a	n/a
28	EP300	chr4:144293413-144294269	GM12878	blood:	n/a	n/a
29	EP300	chr4:144295923-144296300	T-47D	breast:	n/a	n/a
30	EP300	chr4:144293478-144294041	GM12878	blood:	n/a	n/a
31	EP300	chr4:144293318-144294195	GM12878	blood:	n/a	n/a
32	FOXA1	chr4:144295896-144296136	T-47D	breast:	n/a	n/a
33	FOXA1	chr4:144295948-144296176	T-47D	breast:	n/a	n/a
34	FOXM1	chr4:144292983-144294126	GM12878	blood:	n/a	n/a
35	FOXM1	chr4:144293303-144294189	GM12878	blood:	n/a	n/a
36	GATA2	chr4:144290678-144291175	HUVEC	blood vessel:	n/a	n/a
37	GATA3	chr4:144290721-144290938	T-47D	breast:	n/a	n/a
38	GATA3	chr4:144295930-144296135	T-47D	breast:	n/a	n/a
39	HNF4A	chr4:144289029-144289292	HepG2	liver:	n/a	chr4:144289240-144289255 chr4:144289240-144289255 chr4:144289240-144289255
40	HNF4A	chr4:144289079-144289287	HepG2	liver:	n/a	chr4:144289240-144289255 chr4:144289240-144289255 chr4:144289240-144289255
41	IRF3	chr4:144293549-144293987	GM12878	blood:	n/a	n/a
42	IRF4	chr4:144293449-144293970	GM12878	blood:	n/a	n/a
43	IRF4	chr4:144293362-144294002	GM12878	blood:	n/a	n/a
44	JUN	chr4:144289837-144289903	HepG2	liver:	n/a	n/a
45	JUND	chr4:144293379-144294159	GM12878	blood:	n/a	n/a
46	MAFK	chr4:144294128-144294185	HepG2	liver:	n/a	n/a
47	MAX	chr4:144290896-144290958	GM12878	blood:	n/a	n/a
48	MAX	chr4:144293325-144294080	GM12878	blood:	n/a	n/a
49	MAZ	chr4:144293175-144294017	GM12878	blood:	n/a	n/a
50	MAZ	chr4:144288738-144288750	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:144290996..144292995-chr4:144295055..144297084,2	MCF-7	breast:
2	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
3	chr4:144289833..144291469-chr4:144294402..144296058,2	K562	blood:
4	chr4:144289833..144292177-chr4:144294492..144296058,2	K562	blood:
5	chr4:144290996..144292995-chr4:144295055..144297084,2	MCF-7	breast:
6	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:
7	chr4:144256664..144258280-chr4:144293930..144296084,2	MCF-7	breast:
8	chr4:144283863..144286903-chr4:144287176..144291126,4	K562	blood:
9	chr4:144289833..144292177-chr4:144294492..144296058,2	K562	blood:
10	chr4:144284857..144287398-chr4:144288484..144291385,2	K562	blood:
11	chr4:144294005..144295749-chr4:144303829..144305469,2	K562	blood:
12	chr4:144295435..144296093-chr5:75459165..75460000,2	MCF-7	breast:
13	chr4:144289833..144291469-chr4:144294402..144296058,2	K562	blood:
14	chr4:144283863..144286903-chr4:144287176..144291126,4	K562	blood:
15	chr4:144257678..144260213-chr4:144284163..144287062,2	MCF-7	breast:
16	chr4:144284857..144287398-chr4:144288484..144291385,2	K562	blood:
17	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:

No data

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000178972	chromatin interactions
ENSG00000109458	chromatin interactions

Extended variants
information (count: 372 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3805254	chr4:144285683-144285684	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28989218	chr4:144285700-144285701	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529181916	chr4:144285748-144285749	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550629033	chr4:144285796-144285797	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561695747	chr4:144285803-144285804	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148116827	chr4:144285814-144285815	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551033081	chr4:144285821-144285822	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566240912	chr4:144285832-144285833	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533682184	chr4:144285836-144285837	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554940424	chr4:144285840-144285841	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62337516	chr4:144285873-144285874	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186708923	chr4:144285882-144285883	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191130685	chr4:144285895-144285896	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575767248	chr4:144285912-144285913	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141888507	chr4:144285917-144285918	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564529208	chr4:144285927-144285928	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573362041	chr4:144285951-144285952	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575548797	chr4:144285952-144285953	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375299332	chr4:144285953-144285954	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117220286	chr4:144285956-144285957	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562092569	chr4:144285984-144285985	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529304852	chr4:144285993-144285994	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367953855	chr4:144286018-144286019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550817377	chr4:144286025-144286026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556770667	chr4:144286053-144286054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562660610	chr4:144286062-144286063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6537154	chr4:144286070-144286071	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376412373	chr4:144286100-144286101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183272253	chr4:144286123-144286124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528896605	chr4:144286131-144286132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533620901	chr4:144286221-144286222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7679870	chr4:144286242-144286243	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188414552	chr4:144286273-144286274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs62337517	chr4:144286293-144286294	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528203090	chr4:144286310-144286311	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557586979	chr4:144286321-144286322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371255109	chr4:144286418-144286419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540174541	chr4:144286421-144286422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558378158	chr4:144286450-144286451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs193019166	chr4:144286541-144286542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs147435675	chr4:144286570-144286571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185160728	chr4:144286590-144286591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573949801	chr4:144286650-144286651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540309780	chr4:144286655-144286656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34583666	chr4:144286685-144286686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562942557	chr4:144286708-144286709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34940848	chr4:144286710-144286711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563499125	chr4:144286712-144286713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs28989219	chr4:144286744-144286745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs59923712	chr4:144286776-144286777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
4	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
5	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
7	chr4:144281200-144290000	Weak transcription	Fetal Stomach	stomach
8	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
10	chr4:144281800-144286000	Enhancers	Brain Substantia Nigra	brain
11	chr4:144281800-144293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:144282000-144291200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:144282600-144286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:144282800-144290600	Weak transcription	Fetal Lung	lung
15	chr4:144283000-144285800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:144283000-144286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:144283000-144290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:144283000-144290800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:144283000-144290800	Weak transcription	Gastric	stomach
20	chr4:144283000-144291200	Weak transcription	Ovary	ovary
21	chr4:144283000-144293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:144283000-144295400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:144283200-144293400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:144284000-144286000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:144284000-144293600	Weak transcription	Spleen	Spleen
27	chr4:144284000-144296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:144284000-144296600	Weak transcription	Fetal Thymus	thymus
29	chr4:144284200-144286400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:144284200-144287000	Weak transcription	Brain Anterior Caudate	brain
31	chr4:144284200-144295600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:144284400-144290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:144284400-144299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:144284600-144286000	Enhancers	Placenta	Placenta
35	chr4:144284600-144288000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:144284600-144290000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:144284600-144290000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:144284600-144290800	Weak transcription	Fetal Intestine Large	intestine
39	chr4:144284600-144291200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:144284600-144295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:144284600-144295200	Weak transcription	K562	blood
42	chr4:144284800-144285800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:144284800-144286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:144284800-144290000	Weak transcription	Brain Angular Gyrus	brain
45	chr4:144284800-144295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:144285000-144290000	Weak transcription	Small Intestine	intestine
47	chr4:144285000-144290400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:144285000-144290800	Weak transcription	Right Ventricle	heart
49	chr4:144285200-144287800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:144285200-144290000	Weak transcription	Left Ventricle	heart

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