Variant report

Variant	nsv1025407
Chromosome Location	chr4:172548085-172621810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:172550343-172550737	GM12878	blood:	n/a	n/a
2	ATF2	chr4:172560383-172561257	GM12878	blood:	n/a	n/a
3	ATF2	chr4:172565685-172566164	GM12878	blood:	n/a	n/a
4	ATF2	chr4:172550218-172550788	GM12878	blood:	n/a	n/a
5	ATF2	chr4:172560445-172561199	GM12878	blood:	n/a	n/a
6	BATF	chr4:172560551-172561155	GM12878	blood:	n/a	n/a
7	BATF	chr4:172564570-172564883	GM12878	blood:	n/a	n/a
8	BATF	chr4:172560547-172561113	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:172550363-172550648	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:172560519-172561175	GM12878	blood:	n/a	chr4:172560676-172560685
11	BCL11A	chr4:172597980-172598286	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:172560567-172561088	GM12878	blood:	n/a	chr4:172560676-172560685
13	BCL11A	chr4:172565898-172566103	GM12878	blood:	n/a	n/a
14	BCL3	chr4:172560629-172561180	GM12878	blood:	n/a	chr4:172560676-172560685
15	BCLAF1	chr4:172597883-172598386	GM12878	blood:	n/a	n/a
16	BCLAF1	chr4:172560505-172561162	GM12878	blood:	n/a	chr4:172560676-172560685
17	BCLAF1	chr4:172560568-172561206	GM12878	blood:	n/a	chr4:172560676-172560685
18	BHLHE40	chr4:172560465-172561289	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:172550359-172550636	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:172598095-172598382	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:172565678-172566249	GM12878	blood:	n/a	n/a
22	CEBPB	chr4:172560601-172561124	GM12878	blood:	n/a	n/a
23	CEBPB	chr4:172597096-172597118	K562	blood:	n/a	n/a
24	CEBPB	chr4:172591553-172591853	HepG2	liver:	n/a	n/a
25	CEBPB	chr4:172591603-172591852	K562	blood:	n/a	n/a
26	CEBPB	chr4:172560485-172561460	GM12878	blood:	n/a	n/a
27	CEBPB	chr4:172557776-172558145	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr4:172565838-172566038	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPD	chr4:172547737-172548140	K562	blood:	n/a	n/a
30	CHD2	chr4:172550471-172550671	GM12878	blood:	n/a	n/a
31	CHD2	chr4:172560631-172561143	GM12878	blood:	n/a	n/a
32	CREB1	chr4:172560440-172561297	GM12878	blood:	n/a	n/a
33	CREB1	chr4:172565598-172566260	GM12878	blood:	n/a	n/a
34	CREB1	chr4:172560488-172561143	GM12878	blood:	n/a	n/a
35	CTCF	chr4:172550910-172551157	K562	blood:	n/a	n/a
36	CTCF	chr4:172550899-172551059	HepG2	liver:	n/a	n/a
37	CTCF	chr4:172571880-172572030	GM12864	blood:	n/a	n/a
38	CTCF	chr4:172571860-172572010	GM12872	blood:	n/a	n/a
39	CTCF	chr4:172571820-172571970	GM12801	blood:	n/a	n/a
40	CTCF	chr4:172550860-172551010	HepG2	liver:	n/a	n/a
41	CTCF	chr4:172571860-172572010	HEK293	kidney:	n/a	n/a
42	CTCF	chr4:172571856-172571987	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr4:172571860-172572010	GM12864	blood:	n/a	n/a
44	CTCF	chr4:172571900-172572050	GM12874	blood:	n/a	n/a
45	CTCF	chr4:172571841-172571984	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:172571878-172571931	HepG2	liver:	n/a	n/a
47	CTCF	chr4:172571781-172572043	GM12878	blood:	n/a	n/a
48	CTCF	chr4:172550886-172551082	HepG2	liver:	n/a	n/a
49	CTCF	chr4:172550894-172551085	K562	blood:	n/a	n/a
50	CTCF	chr4:172571903-172571967	GM13976	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:172551189-172551239	RPTEC	kidney:	n/a
2	chr4:172551189-172551239	Hela-S3	cervix:	n/a
3	chr4:172551189-172551239	HRCEpiC	kidney:	n/a
4	chr4:172551189-172551239	MCF10A-Er-Src	breast:	n/a
5	chr4:172551189-172551239	AG04449	skin:	fetal
6	chr4:172551189-172551239	ovcar-3	ovarian:	n/a
7	chr4:172551189-172551239	SKMC	muscle:	n/a
8	chr4:172551189-172551239	GM12878	blood:	n/a
9	chr4:172551189-172551239	MCF-7	breast:	n/a
10	chr4:172551189-172551239	BE2_C	brain:	n/a
11	chr4:172551189-172551239	HCT-116	colon:	n/a
12	chr4:172551189-172551239	HMEC	breast:	n/a
13	chr4:172551189-172551239	BJ	skin:	n/a
14	chr4:172551189-172551239	SAEC	small airway:	n/a
15	chr4:172551189-172551239	ProgFib	skin:	n/a
16	chr4:172551189-172551239	AG04450	lung:	fetal
17	chr4:172551189-172551239	AoSMC	blood vessel:	n/a
18	chr4:172551189-172551239	GM12892	blood:	n/a
19	chr4:172551189-172551239	AG10803	skin:	n/a
20	chr4:172551189-172551239	GM06990	blood:	n/a
21	chr4:172551189-172551239	HCF	heart:	n/a
22	chr4:172551189-172551239	Jurkat	blood:	n/a
23	chr4:172551189-172551239	U87	brain:	n/a
24	chr4:172551189-172551239	HRE	kidney:	n/a
25	chr4:172551189-172551239	HCPEpiC	choroid plexus:	n/a
26	chr4:172551189-172551239	AG09309	skin:	n/a
27	chr4:172551189-172551239	HUVEC	blood vessel:	n/a
28	chr4:172551189-172551239	NHBE	bronchial:	n/a
29	chr4:172551189-172551239	Hepatocyte	liver:	n/a
30	chr4:172551189-172551239	HIPEpiC	eye:	n/a
31	chr4:172551189-172551239	H1-hESC	embryonic stem cell:	embryo
32	chr4:172551189-172551239	HEEpiC	esophagus:	n/a
33	chr4:172551189-172551239	SK-N-MC	brain:	n/a
34	chr4:172551189-172551239	NB4	blood:	n/a
35	chr4:172551189-172551239	HepG2	liver:	n/a
36	chr4:172551189-172551239	PrEC	prostate:	n/a
37	chr4:172551189-172551239	PANC-1	pancreas:	n/a
38	chr4:172551189-172551239	PFSK-1	brain:	n/a
39	chr4:172551189-172551239	HL-60	blood:	n/a
40	chr4:172551189-172551239	ECC-1	luminal epithelium:	n/a
41	chr4:172551189-172551239	T-47D	breast:	n/a
42	chr4:172551189-172551239	CMK	blood:	n/a
43	chr4:172551189-172551239	GM12891	blood:	n/a
44	chr4:172551189-172551239	K562	blood:	n/a
45	chr4:172551189-172551239	SK-N-SH	brain:	n/a
46	chr4:172551189-172551239	HRPEpiC	eye:	n/a
47	chr4:172551189-172551239	GM19239	blood:	n/a
48	chr4:172551189-172551239	LNCaP	prostate:	n/a
49	chr4:172551189-172551239	HPAEpiC	pulmonary alveolar:	n/a
50	chr4:172551189-172551239	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:172549383..172552070-chr4:172555751..172557689,2	K562	blood:
2	chr4:172549383..172552070-chr4:172555751..172557689,2	K562	blood:
3	chr4:172535314..172537832-chr4:172551510..172553549,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AADAT-6	chr4:172559811-172559914	XLOC_004160
2	lnc-AADAT-6	chr4:172557144-172557228	XLOC_004160
3	lnc-AADAT-6	chr4:172557136-172557228	XLOC_004160
4	lnc-AADAT-6	chr4:172577884-172577960	XLOC_004160
5	lnc-AADAT-6	chr4:172559811-172559912	XLOC_004160

No data

Variant related genes	Relation type
ENSG00000249297	TF binding region
ENSG00000249297	CpG island
ARHGAP19	miRNA target sites

Extended variants
information (count: 1356 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1356 , 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	rs140131736	chr4:172548098-172548099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553803637	chr4:172548161-172548162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17057196	chr4:172548168-172548169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543076261	chr4:172548261-172548262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562858008	chr4:172548272-172548273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115625556	chr4:172548492-172548493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190768315	chr4:172548497-172548498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201605048	chr4:172548552-172548553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542249830	chr4:172548583-172548584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553130515	chr4:172548603-172548604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527897378	chr4:172548628-172548629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183001338	chr4:172548634-172548635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567895329	chr4:172548689-172548690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17057198	chr4:172548704-172548705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545089884	chr4:172548736-172548737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548609888	chr4:172548737-172548738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568510555	chr4:172548752-172548753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565501495	chr4:172548754-172548755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530957299	chr4:172548763-172548764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557582284	chr4:172548771-172548772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571291545	chr4:172548776-172548777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150295600	chr4:172548797-172548798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553916836	chr4:172548798-172548799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574022401	chr4:172548831-172548832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374342930	chr4:172548878-172548879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367902182	chr4:172548923-172548924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188703587	chr4:172548936-172548937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544895344	chr4:172548943-172548944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137855292	chr4:172548946-172548947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149642335	chr4:172549067-172549068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138520572	chr4:172549124-172549125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193279188	chr4:172549146-172549147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35520724	chr4:172549152-172549153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183461043	chr4:172549281-172549282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572483398	chr4:172549379-172549380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541301065	chr4:172549381-172549382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115862262	chr4:172549436-172549437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532518171	chr4:172549438-172549439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528437745	chr4:172549454-172549455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145148553	chr4:172549522-172549523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550065950	chr4:172549523-172549524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114599808	chr4:172549524-172549525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531227288	chr4:172549591-172549592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377600037	chr4:172549599-172549600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377175853	chr4:172549600-172549601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551333869	chr4:172549611-172549612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187389365	chr4:172549614-172549615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533873011	chr4:172549621-172549622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28609508	chr4:172549632-172549633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547447506	chr4:172549639-172549640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172544000-172550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:172544400-172549800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:172549800-172550800	Enhancers	Primary B cells from cord blood	blood
4	chr4:172549800-172551400	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:172550000-172550800	ZNF genes & repeats	GM12878-XiMat	blood
6	chr4:172550200-172550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:172550400-172551000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:172550600-172551400	Enhancers	Placenta	Placenta
9	chr4:172551000-172551200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:172551000-172551200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:172551000-172553000	Active TSS	K562	blood
12	chr4:172551200-172551400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr4:172553600-172557200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:172557000-172558000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:172560000-172560200	Enhancers	GM12878-XiMat	blood
16	chr4:172560200-172560600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:172560200-172560600	Flanking Active TSS	GM12878-XiMat	blood
18	chr4:172560600-172561000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:172560600-172561000	Active TSS	GM12878-XiMat	blood
20	chr4:172560600-172561200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:172560600-172561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:172560600-172561400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:172561000-172561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:172561000-172562200	Flanking Active TSS	GM12878-XiMat	blood
25	chr4:172561200-172563600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:172561200-172564200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:172561400-172564000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:172561400-172564200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:172562200-172562400	Enhancers	GM12878-XiMat	blood
30	chr4:172562400-172563200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr4:172563400-172564800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr4:172563400-172565400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:172563600-172563800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:172563600-172564200	Enhancers	Placenta	Placenta
35	chr4:172563600-172564800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:172563600-172566400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:172564000-172565000	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:172564000-172565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:172564200-172565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:172564200-172565800	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:172564800-172565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:172564800-172565600	Enhancers	GM12878-XiMat	blood
43	chr4:172565000-172565400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:172565400-172565600	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:172565400-172565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:172565600-172565800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr4:172565600-172566000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:172565600-172566000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr4:172565600-172566000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:172565600-172566000	Enhancers	Fetal Muscle Leg	muscle

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