Variant report

Variant	nsv596195
Chromosome Location	chr4:172403576-172496926
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	BACH1	chr4:172431444-172431445	K562	blood:	n/a	n/a
2	BATF	chr4:172437873-172438100	GM12878	blood:	n/a	n/a
3	BATF	chr4:172442956-172443210	GM12878	blood:	n/a	n/a
4	BATF	chr4:172482588-172482958	GM12878	blood:	n/a	n/a
5	BATF	chr4:172437862-172438152	GM12878	blood:	n/a	n/a
6	BATF	chr4:172482626-172482847	GM12878	blood:	n/a	n/a
7	BATF	chr4:172440668-172440899	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:172442922-172443175	GM12878	blood:	n/a	n/a
9	CCNT2	chr4:172417411-172417571	K562	blood:	n/a	n/a
10	CEBPB	chr4:172455378-172455651	IMR90	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
11	CEBPB	chr4:172459966-172460180	K562	blood:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
12	CEBPB	chr4:172459975-172460213	A549	lung:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
13	CEBPB	chr4:172495139-172495358	A549	lung:	n/a	n/a
14	CEBPB	chr4:172459911-172460238	Hela-S3	cervix:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
15	CEBPB	chr4:172459925-172460246	HepG2	liver:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
16	CEBPB	chr4:172467371-172467590	K562	blood:	n/a	n/a
17	CEBPB	chr4:172495068-172495402	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:172455392-172455592	K562	blood:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
19	CEBPB	chr4:172478592-172478766	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr4:172455391-172455591	A549	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
21	CEBPB	chr4:172446966-172447056	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:172455324-172455674	HepG2	liver:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
23	CEBPB	chr4:172433261-172433503	HepG2	liver:	n/a	chr4:172433432-172433443
24	CTCF	chr4:172411300-172411450	GM12872	blood:	n/a	n/a
25	CTCF	chr4:172471103-172471176	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr4:172484926-172485011	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr4:172410385-172410457	GM13977	blood:	n/a	n/a
28	CUX1	chr4:172437963-172438091	GM12878	blood:	n/a	n/a
29	E2F4	chr4:172450794-172450989	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr4:172475225-172475288	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr4:172447130-172447330	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr4:172467322-172467537	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr4:172459947-172460147	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr4:172442295-172442321	GM12878	blood:	n/a	n/a
35	EBF1	chr4:172452173-172452391	GM12878	blood:	n/a	n/a
36	EBF1	chr4:172437939-172438011	GM12878	blood:	n/a	n/a
37	EP300	chr4:172443040-172443115	GM12878	blood:	n/a	n/a
38	FAM48A	chr4:172444564-172444615	GM12878	blood:	n/a	n/a
39	FOS	chr4:172459170-172459474	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr4:172459835-172460150	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:172459172-172459690	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:172447109-172447126	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr4:172459858-172460199	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr4:172459890-172460212	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr4:172459858-172460201	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:172459173-172459395	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:172459168-172459406	MCF10A-Er-Src	breast:	n/a	n/a
48	GATA2	chr4:172493017-172493340	K562	blood:	n/a	n/a
49	GATA3	chr4:172405807-172406222	MCF-7	breast:	n/a	n/a
50	GATA3	chr4:172405925-172406109	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:172491997..172494693-chr4:173072561..173074152,2	K562	blood:
2	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
3	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
4	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
5	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
6	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
7	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
8	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
9	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-5	chr4:172474151-172474376	XLOC_004159
2	lnc-AADAT-5	chr4:172485115-172485236	XLOC_004159
3	lnc-AADAT-5	chr4:172485363-172485418	XLOC_004159

Variant related genes	Relation type
ENSG00000251176	TF binding region

Extended variants
information (count: 1405 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560037151	chr4:172404812-172404813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528973867	chr4:172404842-172404843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144994890	chr4:172404845-172404846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562324039	chr4:172404852-172404853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531377402	chr4:172404918-172404919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551279214	chr4:172404922-172404923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200859785	chr4:172404957-172404958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373241306	chr4:172404970-172404971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571159612	chr4:172404971-172404972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112284594	chr4:172404986-172404987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572213932	chr4:172404998-172404999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116707131	chr4:172405009-172405010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190552198	chr4:172405053-172405054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4144862	chr4:172405095-172405096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541791018	chr4:172405113-172405114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553558922	chr4:172405154-172405155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73868781	chr4:172405211-172405212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570278399	chr4:172405249-172405250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148372795	chr4:172405268-172405269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539196772	chr4:172405319-172405320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199522578	chr4:172405320-172405321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565301041	chr4:172405360-172405361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147754797	chr4:172405362-172405363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553716783	chr4:172405373-172405374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142618287	chr4:172405375-172405376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542731792	chr4:172405381-172405382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562211439	chr4:172405390-172405391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575833581	chr4:172405495-172405496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72985157	chr4:172405527-172405528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564874089	chr4:172405616-172405617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527564083	chr4:172405644-172405645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181872198	chr4:172405662-172405663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75987250	chr4:172405764-172405765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs33985509	chr4:172405765-172405766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201994240	chr4:172405766-172405767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146847347	chr4:172405881-172405882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151302148	chr4:172405911-172405912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79480608	chr4:172405917-172405918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74494733	chr4:172405918-172405919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530007622	chr4:172405986-172405987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17266915	chr4:172405998-172405999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570118274	chr4:172406080-172406081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140091265	chr4:172406144-172406145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201193382	chr4:172406147-172406148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376047842	chr4:172406167-172406168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539286611	chr4:172406193-172406194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7667453	chr4:172418044-172418045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531769148	chr4:172418064-172418065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72985178	chr4:172418106-172418107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532226307	chr4:172418112-172418113	Enhancers	n/a	n/a	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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:172405800-172406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:172418000-172418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:172436000-172442000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:172439400-172440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:172439600-172440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:172440200-172440600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:172441600-172442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:172441800-172442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:172442000-172442200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:172442200-172444800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:172442200-172446000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:172444800-172445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:172445200-172446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:172446000-172446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:172446200-172446400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:172446200-172446400	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:172446200-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:172446400-172447400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:172446600-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:172447000-172447600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:172447400-172447600	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:172454000-172454600	Active TSS	Aorta	Aorta
25	chr4:172454000-172454600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:172458000-172458200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:172458200-172458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:172458800-172460600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:172459800-172460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:172460000-172460600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:172472200-172472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:172472400-172473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:172472400-172473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:172472400-172473000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:172472600-172473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:172472600-172476800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:172473000-172476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:172475200-172475400	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:172475400-172483600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:172476000-172476600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:172476800-172478200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:172482600-172483000	Enhancers	GM12878-XiMat	blood
43	chr4:172483000-172486200	Weak transcription	GM12878-XiMat	blood
44	chr4:172486200-172487000	Enhancers	GM12878-XiMat	blood
45	chr4:172492400-172492600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:172492600-172495000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:172492800-172496200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:172495000-172495800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:172495800-172499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:172496200-172499000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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