Variant report

Variant	nsv4544
Chromosome Location	chr4:149979800-150026323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:149998225-149998361	K562	blood:	n/a	n/a
2	CEBPB	chr4:149998107-149998385	HepG2	liver:	n/a	n/a
3	CTCF	chr4:149997560-149997710	AG04450	lung:	n/a	n/a
4	CTCF	chr4:149987020-149987170	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr4:149987022-149987248	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:149987081-149987158	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr4:149987107-149987148	HepG2	liver:	n/a	n/a
8	CTCF	chr4:149987040-149987190	GM12864	blood:	n/a	n/a
9	CTCF	chr4:149987000-149987150	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:149986980-149987130	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr4:150019727-150019746	GM20000	blood:	n/a	n/a
12	CTCF	chr4:150015712-150015754	Fibrobl	skin:	n/a	n/a
13	CTCF	chr4:149993970-149994043	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr4:149997560-149997710	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr4:149987032-149987157	GM12878	blood:	n/a	n/a
16	CTCF	chr4:149987067-149987151	Medullo	brain:	n/a	n/a
17	CTCF	chr4:149987040-149987190	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr4:149987091-149987093	HepG2	liver:	n/a	n/a
19	CUX1	chr4:149998512-149998651	K562	blood:	n/a	n/a
20	E2F4	chr4:149992678-149992814	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr4:149993401-149993524	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr4:149998468-149998668	K562	blood:	n/a	n/a
23	EP300	chr4:150020490-150020503	GM12878	blood:	n/a	n/a
24	FOXA2	chr4:150015136-150015574	A549	lung:	n/a	n/a
25	GATA1	chr4:149998155-149998901	PBDE	blood:	n/a	n/a
26	GATA3	chr4:149998338-149998805	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr4:150025079-150025634	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr4:149998358-149998818	SK-N-SH	brain:	n/a	n/a
29	JUN	chr4:150024565-150024733	HepG2	liver:	n/a	chr4:150024715-150024728
30	JUND	chr4:150024580-150024780	HepG2	liver:	n/a	n/a
31	JUND	chr4:149987259-149987356	HepG2	liver:	n/a	n/a
32	JUND	chr4:149998483-149998770	K562	blood:	n/a	n/a
33	POLR2A	chr4:149992617-149992643	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:149984659-149984666	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:150016944-150017047	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:149984823-149985033	Gliobla	brain:	n/a	n/a
37	POLR2A	chr4:149983208-149983386	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:150002074-150002106	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:149985296-149985311	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:149998489-149998589	K562	blood:	n/a	n/a
41	POLR2A	chr4:149983282-149983481	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:150022522-150022589	Gliobla	brain:	n/a	n/a
43	POLR2A	chr4:149993454-149993900	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr4:149984180-149984184	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:149993378-149993904	H1-neurons	neurons:	n/a	n/a
46	RAD21	chr4:149986923-149987292	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr4:149986848-149987327	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr4:149987019-149987169	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr4:149986912-149987190	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr4:149986875-149987327	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149998189..149999703-chr4:150002334..150004305,2	MCF-7	breast:
2	chr4:149998189..149999703-chr4:150002334..150004305,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR3C2-3	chr4:149983562-149983674	XLOC_004119

No data

Variant related genes	Relation type
ENSG00000249752	TF binding region
LNX2	miRNA target sites

Extended variants
information (count: 424 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547412107	chr4:149981005-149981006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576813204	chr4:149981015-149981016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537141070	chr4:149981022-149981023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184814111	chr4:149981026-149981027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189710707	chr4:149981057-149981058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192248509	chr4:149981079-149981080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558367258	chr4:149981084-149981085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538839601	chr4:149981134-149981135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558779526	chr4:149981152-149981153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115760335	chr4:149981156-149981157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184640614	chr4:149981160-149981161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114195426	chr4:149981161-149981162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573974769	chr4:149981174-149981175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78799624	chr4:149981175-149981176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375216234	chr4:149981184-149981185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531838680	chr4:149981397-149981398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189006935	chr4:149981441-149981442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541761615	chr4:149981469-149981470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565129985	chr4:149981504-149981505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74352446	chr4:149981511-149981512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575231489	chr4:149981528-149981529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567319581	chr4:149981548-149981549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529666686	chr4:149981549-149981550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549703436	chr4:149981588-149981589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142883343	chr4:149981628-149981629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542405446	chr4:149981630-149981631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538923503	chr4:149981635-149981636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182049018	chr4:149981668-149981669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565857144	chr4:149981680-149981681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151051157	chr4:149981681-149981682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553992723	chr4:149981682-149981683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538167844	chr4:149981707-149981708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574041864	chr4:149981714-149981715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542661191	chr4:149981768-149981769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186424722	chr4:149981796-149981797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576370050	chr4:149981826-149981827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140941772	chr4:149981850-149981851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34814660	chr4:149981880-149981881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560698829	chr4:149981896-149981897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28515747	chr4:149981911-149981912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530670079	chr4:149981946-149981947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149770103	chr4:149981999-149982000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527894930	chr4:149982027-149982028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146771534	chr4:149982040-149982041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200441290	chr4:149982074-149982075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527763945	chr4:149982076-149982077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142429382	chr4:149982098-149982099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189177812	chr4:149982106-149982107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549839233	chr4:149982182-149982183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552436999	chr4:149982207-149982208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149981000-149981800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:149981800-149983000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:149983000-149983200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:149983200-149983600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:149983600-149984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:149992600-149993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:149993000-149994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:149994200-149994400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:149996400-149996600	Enhancers	Psoas Muscle	Psoas
10	chr4:149996800-149997400	Weak transcription	Psoas Muscle	Psoas
11	chr4:149997200-149998000	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:149997400-149997600	Enhancers	Psoas Muscle	Psoas
13	chr4:149997600-149998200	Weak transcription	Psoas Muscle	Psoas
14	chr4:149998400-149998600	Enhancers	Psoas Muscle	Psoas
15	chr4:150004200-150004600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:150004200-150005200	Enhancers	Adipose Nuclei	Adipose
17	chr4:150016800-150017000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:150016800-150017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:150016800-150017200	Enhancers	NHDF-Ad	bronchial
20	chr4:150016800-150017400	Enhancers	Adipose Nuclei	Adipose
21	chr4:150016800-150017400	Enhancers	HSMM	muscle
22	chr4:150022400-150022800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:150023800-150025200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:150023800-150026600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:150025000-150025400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:150025000-150025600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:150025000-150025600	Enhancers	NHEK	skin
28	chr4:150025200-150034200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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