Variant report

Variant	nsv596185
Chromosome Location	chr4:172376220-172494233
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	chr4:172437862-172438152	GM12878	blood:	n/a	n/a
3	BATF	chr4:172440668-172440899	GM12878	blood:	n/a	n/a
4	BATF	chr4:172482588-172482958	GM12878	blood:	n/a	n/a
5	BATF	chr4:172442956-172443210	GM12878	blood:	n/a	n/a
6	BATF	chr4:172437873-172438100	GM12878	blood:	n/a	n/a
7	BATF	chr4:172482626-172482847	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:172442922-172443175	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:172394476-172394542	GM12878	blood:	n/a	n/a
10	CCNT2	chr4:172392140-172392340	K562	blood:	n/a	n/a
11	CCNT2	chr4:172417411-172417571	K562	blood:	n/a	n/a
12	CEBPB	chr4:172455391-172455591	A549	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
13	CEBPB	chr4:172467371-172467590	K562	blood:	n/a	n/a
14	CEBPB	chr4:172398667-172398910	HepG2	liver:	n/a	chr4:172398829-172398840
15	CEBPB	chr4:172459911-172460238	Hela-S3	cervix:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
16	CEBPB	chr4:172446966-172447056	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:172459966-172460180	K562	blood:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
18	CEBPB	chr4:172433261-172433503	HepG2	liver:	n/a	chr4:172433432-172433443
19	CEBPB	chr4:172459975-172460213	A549	lung:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
20	CEBPB	chr4:172455378-172455651	IMR90	lung:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
21	CEBPB	chr4:172478592-172478766	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr4:172455392-172455592	K562	blood:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
23	CEBPB	chr4:172455324-172455674	HepG2	liver:	n/a	chr4:172455485-172455496 chr4:172455485-172455498
24	CEBPB	chr4:172459925-172460246	HepG2	liver:	n/a	chr4:172460071-172460082 chr4:172460070-172460083 chr4:172460070-172460081 chr4:172460070-172460083
25	CTCF	chr4:172484926-172485011	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr4:172410385-172410457	GM13977	blood:	n/a	n/a
27	CTCF	chr4:172471103-172471176	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr4:172411300-172411450	GM12872	blood:	n/a	n/a
29	CUX1	chr4:172394681-172394736	GM12878	blood:	n/a	n/a
30	CUX1	chr4:172437963-172438091	GM12878	blood:	n/a	n/a
31	E2F4	chr4:172459947-172460147	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr4:172447130-172447330	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr4:172475225-172475288	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr4:172387593-172387768	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr4:172450794-172450989	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr4:172467322-172467537	MCF10A-Er-Src	breast:	n/a	n/a
37	EBF1	chr4:172437939-172438011	GM12878	blood:	n/a	n/a
38	EBF1	chr4:172394209-172394867	GM12878	blood:	n/a	n/a
39	EBF1	chr4:172442295-172442321	GM12878	blood:	n/a	n/a
40	EBF1	chr4:172396201-172396466	GM12878	blood:	n/a	n/a
41	EBF1	chr4:172452173-172452391	GM12878	blood:	n/a	n/a
42	EP300	chr4:172443040-172443115	GM12878	blood:	n/a	n/a
43	EP300	chr4:172394461-172394504	GM12878	blood:	n/a	n/a
44	FAM48A	chr4:172444564-172444615	GM12878	blood:	n/a	n/a
45	FOS	chr4:172459172-172459690	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:172398419-172398633	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:172398380-172398674	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:172459890-172460212	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:172398300-172398743	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:172459835-172460150	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
2	chr4:172430767..172434419-chr4:172434504..172437331,3	K562	blood:
3	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
4	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
5	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
6	chr4:172410818..172412907-chr4:172427241..172429415,2	K562	blood:
7	chr4:172491997..172494693-chr4:173072561..173074152,2	K562	blood:
8	chr4:172435507..172438081-chr4:172439461..172441174,2	MCF-7	breast:
9	chr4:172406443..172409078-chr4:172410535..172412663,2	MCF-7	breast:
10	chr1:214429883..214430693-chr4:172382652..172383247,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000251176	TF binding region

Extended variants
information (count: 1370 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1370 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543926014	chr4:172381418-172381419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1222970	chr4:172381431-172381432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540061049	chr4:172381443-172381444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556684651	chr4:172381454-172381455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6837679	chr4:172381465-172381466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568395388	chr4:172381520-172381521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112299040	chr4:172381526-172381527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35188354	chr4:172381547-172381548	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546393060	chr4:172381556-172381557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560107414	chr4:172381577-172381578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573418779	chr4:172381586-172381587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550153928	chr4:172381669-172381670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567089449	chr4:172381711-172381712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200637324	chr4:172381750-172381751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369547581	chr4:172381766-172381767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549446652	chr4:172381768-172381769	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180957158	chr4:172381791-172381792	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375589982	chr4:172382402-172382403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539935264	chr4:172382403-172382404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35716873	chr4:172382408-172382409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66818376	chr4:172382413-172382414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553570288	chr4:172382426-172382427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145216108	chr4:172382436-172382437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536173142	chr4:172382437-172382438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533217508	chr4:172382446-172382447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34880163	chr4:172382532-172382533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186772071	chr4:172382570-172382571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191283713	chr4:172382599-172382600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183086059	chr4:172382602-172382603	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562655561	chr4:172382604-172382605	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576571540	chr4:172382625-172382626	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531553395	chr4:172382646-172382647	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187279342	chr4:172382667-172382668	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376735376	chr4:172382670-172382671	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34094005	chr4:172382690-172382691	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528297315	chr4:172382702-172382703	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6855148	chr4:172382775-172382776	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541976295	chr4:172382809-172382810	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189782374	chr4:172382810-172382811	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376570429	chr4:172382836-172382837	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530779937	chr4:172382893-172382894	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182432335	chr4:172382895-172382896	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1497647	chr4:172382933-172382934	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187870845	chr4:172382942-172382943	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193098432	chr4:172382956-172382957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201614645	chr4:172382969-172382970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1497646	chr4:172382970-172382971	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535685590	chr4:172382972-172382973	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539500336	chr4:172382990-172382991	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556486154	chr4:172383019-172383020	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172381400-172381800	Active TSS	Fetal Heart	heart
2	chr4:172382400-172383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:172382400-172383200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:172382600-172383000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:172394000-172395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:172404800-172405000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:172405000-172405800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:172405800-172406200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:172418000-172418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:172436000-172442000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:172439400-172440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:172439600-172440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:172440200-172440600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:172441600-172442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:172441800-172442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:172442000-172442200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:172442200-172444800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:172442200-172446000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:172444800-172445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:172445200-172446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:172446000-172446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:172446200-172446400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:172446200-172446400	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:172446200-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:172446400-172447400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:172446600-172448200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:172447000-172447600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:172447400-172447600	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:172454000-172454600	Active TSS	Aorta	Aorta
30	chr4:172454000-172454600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:172458000-172458200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:172458200-172458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:172458800-172460600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:172459800-172460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:172460000-172460600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:172472200-172472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:172472400-172473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:172472400-172473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:172472400-172473000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:172472600-172473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:172472600-172476800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:172473000-172476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:172475200-172475400	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:172475400-172483600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:172476000-172476600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:172476800-172478200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:172482600-172483000	Enhancers	GM12878-XiMat	blood
48	chr4:172483000-172486200	Weak transcription	GM12878-XiMat	blood
49	chr4:172486200-172487000	Enhancers	GM12878-XiMat	blood
50	chr4:172492400-172492600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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