Variant report

Variant	nsv980496
Chromosome Location	chr4:128378442-128391193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128385976..128387979-chr4:128391054..128393608,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-3	chr4:128378757-128378827	ENSG00000248491

Variant related genes	Relation type
ENSG00000248491	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186206983	chr4:128378781-128378782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs75274564	chr4:128378790-128378791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562435395	chr4:128378802-128378803	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs563172697	chr4:128384651-128384652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575385204	chr4:128384673-128384674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34713973	chr4:128384675-128384676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542403003	chr4:128384682-128384683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77652374	chr4:128384699-128384700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540479943	chr4:128384740-128384741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528131235	chr4:128384751-128384752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546633884	chr4:128384780-128384781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564846928	chr4:128384830-128384831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532882979	chr4:128384847-128384848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59141784	chr4:128384867-128384868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574271061	chr4:128384946-128384947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369567222	chr4:128384963-128384964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569392502	chr4:128384986-128384987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530313396	chr4:128385030-128385031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183419622	chr4:128385163-128385164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60078422	chr4:128385224-128385225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373252233	chr4:128385249-128385250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187500672	chr4:128385261-128385262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192633879	chr4:128385262-128385263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201399579	chr4:128385317-128385318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570492775	chr4:128385335-128385336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531360518	chr4:128385359-128385360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137894344	chr4:128385385-128385386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557217220	chr4:128385416-128385417	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376431675	chr4:128385420-128385421	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542813985	chr4:128385437-128385438	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554432916	chr4:128385445-128385446	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572996439	chr4:128385489-128385490	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148409348	chr4:128385503-128385504	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149474357	chr4:128385507-128385508	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184523790	chr4:128385508-128385509	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532136935	chr4:128385510-128385511	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143954972	chr4:128385523-128385524	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536022920	chr4:128385524-128385525	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548781496	chr4:128385530-128385531	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566926394	chr4:128385573-128385574	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527810016	chr4:128385574-128385575	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564839967	chr4:128385593-128385594	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527336122	chr4:128385605-128385606	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557607995	chr4:128385646-128385647	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148926980	chr4:128385663-128385664	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189844015	chr4:128385676-128385677	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201368657	chr4:128385685-128385686	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191700000	chr4:128385724-128385725	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77823982	chr4:128385752-128385753	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60045438	chr4:128385799-128385800	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128384600-128385400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:128384600-128385800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:128385000-128385400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:128385000-128385600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:128385000-128385600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:128385200-128385600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:128385400-128386000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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