Variant report

Variant	nsv964103
Chromosome Location	chr4:151948137-151951002
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	chr4:151950820-151951504	K562	blood:	n/a	n/a
2	ATF2	chr4:151950866-151951601	GM12878	blood:	n/a	n/a
3	ATF2	chr4:151950852-151951551	GM12878	blood:	n/a	n/a
4	CBX3	chr4:151950627-151951033	K562	blood:	n/a	n/a
5	CTCF	chr4:151948680-151948765	GM20000	blood:	n/a	n/a
6	E2F6	chr4:151950770-151950901	K562	blood:	n/a	n/a
7	EP300	chr4:151950908-151951526	GM12878	blood:	n/a	chr4:151951247-151951256 chr4:151951273-151951287 chr4:151951246-151951255
8	EP300	chr4:151950780-151951407	K562	blood:	n/a	chr4:151951247-151951256 chr4:151951273-151951287 chr4:151951246-151951255
9	FOXM1	chr4:151950844-151951620	GM12878	blood:	n/a	n/a
10	GATA1	chr4:151950759-151951172	PBDE	blood:	n/a	n/a
11	IRF1	chr4:151950820-151951287	K562	blood:	n/a	chr4:151951247-151951256
12	IRF1	chr4:151950858-151951044	K562	blood:	n/a	n/a
13	JUND	chr4:151950824-151951578	K562	blood:	n/a	chr4:151950955-151950967 chr4:151951248-151951255 chr4:151951247-151951256 chr4:151951245-151951257 chr4:151951247-151951255
14	MAFF	chr4:151950765-151951032	K562	blood:	n/a	n/a
15	MAFK	chr4:151950778-151951351	K562	blood:	n/a	n/a
16	MAX	chr4:151950749-151950948	K562	blood:	n/a	n/a
17	MEF2A	chr4:151950945-151951541	GM12878	blood:	n/a	chr4:151951109-151951120
18	MEF2A	chr4:151950958-151951587	GM12878	blood:	n/a	chr4:151951109-151951120
19	MYC	chr4:151950790-151951013	K562	blood:	n/a	n/a
20	NFATC1	chr4:151950965-151951582	GM12878	blood:	n/a	n/a
21	NFIC	chr4:151950662-151951785	GM12878	blood:	n/a	n/a
22	NFIC	chr4:151950929-151951526	GM12878	blood:	n/a	n/a
23	NR2F2	chr4:151950601-151951627	K562	blood:	n/a	n/a
24	RCOR1	chr4:151950741-151950973	K562	blood:	n/a	n/a
25	RUNX3	chr4:151950695-151951671	GM12878	blood:	n/a	n/a
26	TAF1	chr4:151950756-151950930	K562	blood:	n/a	n/a
27	YY1	chr4:151950756-151950895	K562	blood:	n/a	n/a
28	ZNF384	chr4:151949932-151949942	GM12878	blood:	n/a	n/a
29	ZNF384	chr4:151950739-151951500	K562	blood:	n/a	n/a
30	ZNF384	chr4:151950948-151951451	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:151950794..151952477-chr4:151960049..151962471,2	K562	blood:
2	chr4:151935388..151937165-chr4:151947344..151949648,2	MCF-7	breast:
3	chr4:151949743..151954774-chr4:152019052..152025442,10	K562	blood:
4	chr4:151948572..151951286-chr4:151952063..151954538,3	K562	blood:
5	chr4:151945025..151947080-chr4:151949871..151952141,2	K562	blood:
6	chr4:151934245..151939109-chr4:151950920..151958154,15	MCF-7	breast:
7	chr4:151934388..151939336-chr4:151949312..151960128,17	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS3A-2	chr4:151948242-151948769	NONHSAT098738

Variant related genes	Relation type
AK4P6	TF binding region
ENSG00000145425	chromatin interactions
ENSG00000208797	chromatin interactions
ENSG00000198589	chromatin interactions
ENSG00000201264	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563176204	chr4:151948149-151948150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6820298	chr4:151948159-151948160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551840472	chr4:151948179-151948180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181116114	chr4:151948204-151948205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527955105	chr4:151948261-151948262	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs149101303	chr4:151948378-151948379	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs567839513	chr4:151948395-151948396	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs142180725	chr4:151948417-151948418	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs568425113	chr4:151948422-151948423	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs536213317	chr4:151948423-151948424	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs556613345	chr4:151948427-151948428	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs6851079	chr4:151948437-151948438	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539028539	chr4:151948442-151948443	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs558643835	chr4:151948469-151948470	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs554952291	chr4:151948480-151948481	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs540903564	chr4:151948505-151948506	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs185662146	chr4:151948531-151948532	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs143187253	chr4:151948535-151948536	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs543198496	chr4:151948539-151948540	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs143018693	chr4:151948574-151948575	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs190428128	chr4:151948584-151948585	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs545800143	chr4:151948620-151948621	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs559363261	chr4:151948636-151948637	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs375263508	chr4:151948645-151948646	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs368994695	chr4:151948647-151948648	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs548095109	chr4:151948687-151948688	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs561507934	chr4:151948713-151948714	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs372450232	chr4:151948717-151948718	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs534279356	chr4:151948732-151948733	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs180779185	chr4:151948771-151948772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185441547	chr4:151948896-151948897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192137548	chr4:151948897-151948898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552565868	chr4:151948913-151948914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565719418	chr4:151949091-151949092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534638814	chr4:151949171-151949172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554439531	chr4:151949173-151949174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574344797	chr4:151949202-151949203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537259837	chr4:151949203-151949204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183961136	chr4:151949241-151949242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556845175	chr4:151949244-151949245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576894251	chr4:151949259-151949260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188511412	chr4:151949304-151949305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs80310280	chr4:151949312-151949313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559425932	chr4:151949326-151949327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572868869	chr4:151949382-151949383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541794825	chr4:151949434-151949435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561573267	chr4:151949505-151949506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111246479	chr4:151949571-151949572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530293031	chr4:151949590-151949591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191554359	chr4:151949666-151949667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151937800-151967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:151938200-151967400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:151938200-151969000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:151938400-151967000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:151943400-151950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:151947200-151948200	Enhancers	HepG2	liver
7	chr4:151950000-151950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:151950200-151953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:151950800-151951000	Enhancers	GM12878-XiMat	blood
10	chr4:151950800-151951000	Enhancers	K562	blood
11	chr4:151950800-151952400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:151950800-151953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:151950800-151953200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:151951000-151951200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:151951000-151951400	Active TSS	GM12878-XiMat	blood
16	chr4:151951000-151951400	Flanking Active TSS	K562	blood

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