Variant report

Variant	nsv436415
Chromosome Location	chr4:103872832-103878633
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	SPI1	chr4:103876677-103876903	GM12891	blood:	n/a	chr4:103876797-103876810
2	SPI1	chr4:103876653-103876937	GM12878	blood:	n/a	chr4:103876797-103876810

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103876539..103878072-chr4:103939783..103942187,2	K562	blood:

Variant related genes	Relation type
ACTR3BP4	TF binding region
ENSG00000164037	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539576688	chr4:103876549-103876550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558128759	chr4:103876570-103876571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72937424	chr4:103876589-103876590	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144702768	chr4:103876600-103876601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372449535	chr4:103876609-103876610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561789187	chr4:103876613-103876614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6830193	chr4:103876614-103876615	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs541196303	chr4:103876629-103876630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199903570	chr4:103876675-103876676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200855365	chr4:103876686-103876687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559623748	chr4:103876689-103876690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533039828	chr4:103876695-103876696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563615436	chr4:103876697-103876698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551237044	chr4:103876707-103876708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574928067	chr4:103876794-103876795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563404503	chr4:103876795-103876796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530377189	chr4:103876818-103876819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545409599	chr4:103876853-103876854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548981672	chr4:103876872-103876873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369573571	chr4:103876878-103876879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181104404	chr4:103876894-103876895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529577244	chr4:103876905-103876906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138578809	chr4:103876914-103876915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199573048	chr4:103876954-103876955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186760164	chr4:103876981-103876982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200790469	chr4:103876993-103876994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11729161	chr4:103877000-103877001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200086892	chr4:103877004-103877005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201268524	chr4:103877008-103877009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546635242	chr4:103877031-103877032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190755844	chr4:103877032-103877033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199714147	chr4:103877056-103877057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201358188	chr4:103877059-103877060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4235408	chr4:103877060-103877061	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs58779428	chr4:103877065-103877066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537023403	chr4:103877069-103877070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555814163	chr4:103877088-103877089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4235409	chr4:103877136-103877137	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs115044539	chr4:103877190-103877191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553203733	chr4:103877216-103877217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181038805	chr4:103877231-103877232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563207801	chr4:103877281-103877282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530642890	chr4:103877284-103877285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186357974	chr4:103877294-103877295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560576802	chr4:103877348-103877349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190910498	chr4:103877374-103877375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529082796	chr4:103877379-103877380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547723849	chr4:103877399-103877400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183419263	chr4:103877436-103877437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533318580	chr4:103877461-103877462	Inactive region	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103878000-103911200	Weak transcription	Ovary	ovary

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