Variant report

Variant	nsv980221
Chromosome Location	chr4:78882244-78887179
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	MAFK	chr4:78883928-78884135	HepG2	liver:	n/a	n/a
2	NFYA	chr4:78883969-78884169	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:78884072-78884133	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:78886716-78886890	ProgFib	skin:	n/a	n/a
5	POLR2A	chr4:78884169-78884216	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78875058..78877167-chr4:78886944..78889062,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL1-1	chr4:78885094-78885665	NONHSAT097061

Variant related genes	Relation type
HMGB1P44	TF binding region
ENSG00000248926	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184785889	chr4:78882256-78882257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190682756	chr4:78882299-78882300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539785134	chr4:78882315-78882316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200353363	chr4:78882331-78882332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397717586	chr4:78882346-78882347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77632519	chr4:78882347-78882348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141455890	chr4:78882401-78882402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576360620	chr4:78882422-78882423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77472025	chr4:78882442-78882443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62302730	chr4:78882445-78882446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372021078	chr4:78882477-78882478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555594985	chr4:78882569-78882570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574544808	chr4:78882572-78882573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150860092	chr4:78882574-78882575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554042262	chr4:78882607-78882608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75275894	chr4:78882623-78882624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139314245	chr4:78882624-78882625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562430891	chr4:78882641-78882642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553494060	chr4:78882661-78882662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531226425	chr4:78882662-78882663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559045203	chr4:78882678-78882679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62302731	chr4:78882684-78882685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541882010	chr4:78882695-78882696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561606555	chr4:78882716-78882717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11938424	chr4:78882717-78882718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540250581	chr4:78882720-78882721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56060105	chr4:78882732-78882733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570756725	chr4:78882752-78882753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11935318	chr4:78882757-78882758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550070137	chr4:78882782-78882783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569999842	chr4:78882787-78882788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11097980	chr4:78882807-78882808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs530703115	chr4:78882818-78882819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555757511	chr4:78882837-78882838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566022629	chr4:78882840-78882841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535163000	chr4:78882842-78882843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180695875	chr4:78882862-78882863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374555286	chr4:78882877-78882878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186281315	chr4:78882884-78882885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191152697	chr4:78882891-78882892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556209177	chr4:78882936-78882937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576314385	chr4:78882946-78882947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567585317	chr4:78882974-78882975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541446201	chr4:78882978-78882979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561765107	chr4:78882979-78882980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527383083	chr4:78882987-78882988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540729702	chr4:78882992-78882993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564299122	chr4:78883001-78883002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146060910	chr4:78883004-78883005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550033157	chr4:78883005-78883006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
colon cancer	22000013	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78874200-78884400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:78875200-78883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:78875400-78884000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:78876000-78883400	Weak transcription	Thymus	Thymus
5	chr4:78876000-78884000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:78876200-78884000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:78876200-78884000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:78876200-78884200	Weak transcription	Fetal Thymus	thymus
9	chr4:78881800-78882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:78883800-78884600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:78884000-78884200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr4:78884000-78884600	Enhancers	Primary T cells from cord blood	blood
13	chr4:78884200-78884400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:78884200-78884400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:78884200-78885000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:78884400-78884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:78884400-78884600	Enhancers	Fetal Thymus	thymus
18	chr4:78884400-78884600	Enhancers	Thymus	Thymus
19	chr4:78885000-78885200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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