Variant report

Variant	nsv516344
Chromosome Location	chr4:150862026-150874830
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	BHLHE40	chr4:150870631-150870756	K562	blood:	n/a	n/a
2	BRCA1	chr4:150874712-150874716	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr4:150870880-150871030	BE2_C	brain:	n/a	n/a
4	CTCF	chr4:150871060-150871210	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr4:150871020-150871170	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr4:150870880-150871030	HCT-116	colon:	n/a	n/a
7	CTCF	chr4:150871940-150872090	NHLF	lung:	n/a	n/a
8	CTCF	chr4:150870980-150871130	AG10803	skin:	n/a	n/a
9	CTCF	chr4:150871040-150871190	HMF	breast:	n/a	n/a
10	E2F4	chr4:150867512-150867712	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr4:150873239-150873417	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr4:150873109-150873848	SK-N-SH	brain:	n/a	n/a
13	GATA2	chr4:150873174-150873941	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr4:150873100-150873561	SH-SY5Y	brain:	n/a	n/a
15	IRF1	chr4:150867112-150867123	K562	blood:	n/a	n/a
16	IRF1	chr4:150867392-150867465	K562	blood:	n/a	n/a
17	JUN	chr4:150868095-150868249	K562	blood:	n/a	n/a
18	MYC	chr4:150868283-150868333	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:150872462-150872479	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:150870800-150870843	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:150869231-150869599	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:150866940-150867005	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr4:150872085-150872260	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr4:150873301-150873350	MCF10A-Er-Src	breast:	n/a	n/a
25	WRNIP1	chr4:150870735-150870846	GM12878	blood:	n/a	n/a
26	ZNF263	chr4:150873717-150874167	HEK293-T-REx	kidney:	n/a	chr4:150873935-150873956

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:150863926..150866873-chr4:150869991..150872787,2	K562	blood:
2	chr4:150863926..150866873-chr4:150869991..150872787,2	K562	blood:

Variant related genes	Relation type
ENSG00000250704	TF binding region

Extended variants
information (count: 440 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:440 , 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	rs149063013	chr4:150863834-150863835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569462730	chr4:150863860-150863861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74815196	chr4:150863867-150863868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558093861	chr4:150863889-150863890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578138079	chr4:150863907-150863908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540436892	chr4:150863923-150863924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181085174	chr4:150863943-150863944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576451259	chr4:150864030-150864031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115829560	chr4:150864083-150864084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73859809	chr4:150864200-150864201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183564316	chr4:150864209-150864210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531746608	chr4:150864304-150864305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12649188	chr4:150864347-150864348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188007068	chr4:150864350-150864351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527497220	chr4:150864373-150864374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530356553	chr4:150864396-150864397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547150998	chr4:150864413-150864414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374771420	chr4:150864419-150864420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181261707	chr4:150864434-150864435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549409579	chr4:150864438-150864439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569620794	chr4:150864461-150864462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538225472	chr4:150864488-150864489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552262226	chr4:150864516-150864517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35110299	chr4:150864562-150864563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565597084	chr4:150864582-150864583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148246815	chr4:150864609-150864610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369520525	chr4:150864666-150864667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574426199	chr4:150864678-150864679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1505462	chr4:150864762-150864763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527848897	chr4:150864774-150864775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200877670	chr4:150864785-150864786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147899310	chr4:150864786-150864787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72969441	chr4:150864837-150864838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570932391	chr4:150864853-150864854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386680700	chr4:150864862-150864863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79441348	chr4:150864864-150864865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538260768	chr4:150864982-150864983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572403500	chr4:150864999-150865000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77249996	chr4:150865008-150865009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75770613	chr4:150865109-150865110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141288735	chr4:150865124-150865125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549683654	chr4:150865174-150865175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549933826	chr4:150865216-150865217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146269125	chr4:150865236-150865237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185268514	chr4:150865237-150865238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551838587	chr4:150865265-150865266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565812976	chr4:150865286-150865287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190526740	chr4:150865289-150865290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181692990	chr4:150865290-150865291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12649967	chr4:150865292-150865293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150863800-150864400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:150864000-150864400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:150864400-150871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:150870000-150871200	Enhancers	Fetal Brain Male	brain
5	chr4:150870600-150870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:150870600-150870800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:150870600-150870800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:150870600-150871000	Enhancers	Fetal Heart	heart
9	chr4:150870800-150871000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:150870800-150871800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:150870800-150872200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:150871000-150872000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:150871800-150872200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:150871800-150873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:150872000-150873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:150872000-150873400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:150872000-150873400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:150872200-150872600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:150872200-150873000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:150872200-150874000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:150872600-150873000	Enhancers	Brain Germinal Matrix	brain
22	chr4:150873400-150876600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:150874000-150876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:150874800-150875800	Enhancers	Spleen	Spleen

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