Variant report

Variant	nsv4605
Chromosome Location	chr4:172965232-173013447
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	ARID3A	chr4:173009768-173010010	K562	blood:	n/a	n/a
2	BHLHE40	chr4:173009843-173010043	K562	blood:	n/a	n/a
3	CEBPB	chr4:172982512-172982741	HepG2	liver:	n/a	chr4:172982587-172982600 chr4:172982589-172982600 chr4:172982585-172982596 chr4:172982587-172982598
4	CEBPB	chr4:172982433-172982704	Hela-S3	cervix:	n/a	chr4:172982587-172982600 chr4:172982589-172982600 chr4:172982585-172982596 chr4:172982587-172982598
5	CEBPB	chr4:172967154-172967499	A549	lung:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
6	CEBPB	chr4:172976992-172977221	HepG2	liver:	n/a	chr4:172977101-172977112
7	CEBPB	chr4:172967177-172967498	IMR90	lung:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
8	CEBPB	chr4:172967170-172967455	Hela-S3	cervix:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
9	CEBPB	chr4:172967162-172967510	HepG2	liver:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
10	CEBPB	chr4:173004566-173004925	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:173001535-173001557	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:173009876-173009993	K562	blood:	n/a	n/a
13	CEBPB	chr4:172967123-172967427	K562	blood:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
14	CTCF	chr4:172972664-172972707	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:172972560-172972710	HEK293	kidney:	n/a	n/a
16	CTCF	chr4:172995580-172995730	GM12868	blood:	n/a	n/a
17	CTCF	chr4:172974520-172974670	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr4:172972660-172972810	GM12872	blood:	n/a	n/a
19	CTCF	chr4:172972560-172972710	GM12874	blood:	n/a	n/a
20	CTCF	chr4:172970020-172970170	NHLF	lung:	n/a	n/a
21	CTCF	chr4:172976382-172976428	GM20000	blood:	n/a	n/a
22	CUX1	chr4:173009776-173009973	K562	blood:	n/a	n/a
23	CUX1	chr4:172965144-172965234	K562	blood:	n/a	n/a
24	E2F4	chr4:172965882-172966432	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr4:172964037-172965587	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr4:173006937-173007091	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr4:173013209-173013522	MCF10A-Er-Src	breast:	n/a	n/a
28	ELF1	chr4:172975545-172975718	K562	blood:	n/a	n/a
29	EP300	chr4:173009756-173010083	K562	blood:	n/a	n/a
30	FOS	chr4:173005825-173006052	MCF10A-Er-Src	breast:	n/a	chr4:173005925-173005934 chr4:173005926-173005933 chr4:173005925-173005933
31	FOS	chr4:173012605-173012630	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:173005850-173006035	MCF10A-Er-Src	breast:	n/a	chr4:173005925-173005934 chr4:173005926-173005933 chr4:173005925-173005933
33	FOS	chr4:172982553-172982711	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:173005834-173006082	MCF10A-Er-Src	breast:	n/a	chr4:173005925-173005934 chr4:173005926-173005933 chr4:173005925-173005933
35	GATA1	chr4:172972822-172973455	PBDE	blood:	n/a	chr4:172973129-172973138 chr4:172973125-172973141 chr4:172973127-172973140
36	IRF1	chr4:173007214-173007234	K562	blood:	n/a	n/a
37	IRF1	chr4:172965673-172965882	K562	blood:	n/a	chr4:172965682-172965693 chr4:172965681-172965695 chr4:172965680-172965693 chr4:172965682-172965692 chr4:172965681-172965698 chr4:172965680-172965693 chr4:172965681-172965693 chr4:172965678-172965692 chr4:172965679-172965693 chr4:172965681-172965693 chr4:172965674-172965694 chr4:172965683-172965694 chr4:172965682-172965696
38	IRF1	chr4:173004081-173004334	K562	blood:	n/a	n/a
39	IRF1	chr4:172976270-172976580	K562	blood:	n/a	chr4:172976382-172976395 chr4:172976383-172976393 chr4:172976382-172976395 chr4:172976377-172976394 chr4:172976382-172976393 chr4:172976383-172976397
40	IRF3	chr4:172988275-172988330	GM12878	blood:	n/a	n/a
41	JUN	chr4:173007393-173007603	K562	blood:	n/a	n/a
42	KAP1	chr4:173009407-173009838	K562	blood:	n/a	n/a
43	MAFF	chr4:173004464-173004753	HepG2	liver:	n/a	chr4:173004569-173004587
44	MAFF	chr4:173004417-173004723	K562	blood:	n/a	chr4:173004569-173004587
45	MAFK	chr4:173004417-173004744	HepG2	liver:	n/a	chr4:173004571-173004586
46	MAFK	chr4:173004418-173004763	HepG2	liver:	n/a	chr4:173004571-173004586
47	MAFK	chr4:173004414-173004892	Hela-S3	cervix:	n/a	chr4:173004571-173004586
48	MAFK	chr4:172969402-172969500	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAFK	chr4:173004445-173004757	K562	blood:	n/a	chr4:173004571-173004586
50	MAFK	chr4:173004401-173004725	IMR90	lung:	n/a	chr4:173004571-173004586

No.	Distal block	Cell Line	Cell type
1	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
2	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:
3	chr4:173007639..173009652-chr4:173056667..173058243,2	K562	blood:
4	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:
5	chr4:173013361..173016115-chr4:173021036..173022697,2	K562	blood:
6	chr4:172968051..172969692-chr4:172971526..172973256,2	K562	blood:
7	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
8	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:
9	chr4:172962947..172965633-chr4:172966859..172970006,3	K562	blood:
10	chr2:166764007..166764674-chr4:172977172..172977832,2	MCF-7	breast:
11	chr4:172968051..172969692-chr4:172971526..172973256,2	K562	blood:
12	chr4:172962947..172965633-chr4:172966859..172970006,3	K562	blood:
13	chr4:172978945..172981586-chr4:173074547..173076699,2	K562	blood:
14	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:

Variant related genes	Relation type
GALNTL6	TF binding region
ENSG00000123607	chromatin interactions

Extended variants
information (count: 1405 )
Associated
traits (count: 73 )

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	rs544372376	chr4:172965344-172965345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373963856	chr4:172965399-172965400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564443473	chr4:172965417-172965418	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181665097	chr4:172965438-172965439	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13134541	chr4:172965481-172965482	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs145402057	chr4:172965507-172965508	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529296229	chr4:172965529-172965530	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186330099	chr4:172965530-172965531	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563175688	chr4:172965652-172965653	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376733422	chr4:172965655-172965656	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531835799	chr4:172965691-172965692	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563781265	chr4:172965807-172965808	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529334738	chr4:172965812-172965813	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189947668	chr4:172965831-172965832	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570465684	chr4:172965855-172965856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539102693	chr4:172965863-172965864	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546283930	chr4:172965912-172965913	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147693012	chr4:172965927-172965928	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531178109	chr4:172965970-172965971	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555400989	chr4:172966032-172966033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180797380	chr4:172966127-172966128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537660709	chr4:172966154-172966155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561058662	chr4:172966158-172966159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185946312	chr4:172966159-172966160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577910563	chr4:172966162-172966163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540771302	chr4:172966189-172966190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371044353	chr4:172966213-172966214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75152772	chr4:172966231-172966232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574111598	chr4:172966291-172966292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543017235	chr4:172966294-172966295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527617886	chr4:172966335-172966336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1505483	chr4:172966378-172966379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141012539	chr4:172966421-172966422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189931322	chr4:172966432-172966433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565518864	chr4:172966548-172966549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183214898	chr4:172966577-172966578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370666804	chr4:172966606-172966607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75500078	chr4:172966659-172966660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535102675	chr4:172966705-172966706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186460630	chr4:172966709-172966710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368806488	chr4:172966728-172966729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569066853	chr4:172966741-172966742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1505482	chr4:172966786-172966787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190604633	chr4:172966796-172966797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78195272	chr4:172966812-172966813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562893897	chr4:172966852-172966853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557137036	chr4:172966914-172966915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111559625	chr4:172966915-172966916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149820901	chr4:172966940-172966941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183850939	chr4:172966954-172966955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172965000-172965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:172965400-172965600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:172965400-172965800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:172965400-172966200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:172965600-172965800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:172965800-172966000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:172966000-172968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172966200-172968200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:172968000-172968600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:172968000-172969200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:172968200-172968600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:172968600-172968800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:172968600-172969200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:172968800-172970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:172969200-172969400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:172969200-172969400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:172969200-172970200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:172969400-172970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:172970200-172970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:172970400-172970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:172970800-172972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:172970800-172972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:172972000-172973000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:172972200-172972600	Enhancers	Gastric	stomach
25	chr4:172972200-172972800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:172972200-172973800	Enhancers	K562	blood
27	chr4:172972400-172972600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:172972600-172974000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:172973000-172973400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:172973400-172973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:172973800-172974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:172974000-172974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:172974600-172975000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:172974600-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:172975000-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:172976000-172976800	Enhancers	GM12878-XiMat	blood
39	chr4:172976400-172977200	Enhancers	Fetal Heart	heart
40	chr4:172977000-172977200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:172977000-172980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:172980200-172980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:172981800-172983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:172983200-172983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:172983600-172984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:172984000-172984400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:172984000-172985400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:172984000-172985800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:172984200-172984400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:172984200-172985200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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