Variant report

Variant	nsv879913
Chromosome Location	chr4:127844803-127948196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:83)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:127930872..127934639-chr4:127934854..127936757,3	K562	blood:
2	chr4:127930504..127934107-chr4:127938619..127942061,3	K562	blood:
3	chr4:127881584..127884044-chr4:127886785..127888817,3	K562	blood:
4	chr4:127718291..127720772-chr4:127873279..127876126,2	K562	blood:
5	chr4:127652170..127654874-chr4:127875964..127880032,4	K562	blood:
6	chr4:127878020..127880323-chr4:127908771..127910687,2	K562	blood:
7	chr4:127924575..127927200-chr4:127938335..127939945,2	K562	blood:
8	chr4:127771841..127773556-chr4:127876449..127879979,3	K562	blood:
9	chr4:127657779..127661019-chr4:127875846..127879215,3	K562	blood:
10	chr4:127887278..127889160-chr4:127890616..127894072,4	K562	blood:
11	chr4:127836489..127839224-chr4:127843135..127845603,3	K562	blood:
12	chr4:127882715..127885766-chr4:127890453..127894088,4	K562	blood:
13	chr4:127846136..127847995-chr4:127877424..127879042,2	K562	blood:
14	chr4:127694991..127697764-chr4:127874695..127878637,6	K562	blood:
15	chr4:127722324..127726396-chr4:127876150..127878934,3	K562	blood:
16	chr4:127876070..127879293-chr4:127896514..127899164,4	K562	blood:
17	chr4:127876194..127877904-chr4:127948090..127950804,2	K562	blood:
18	chr4:127855901..127858595-chr4:127860559..127863000,3	K562	blood:
19	chr4:127875714..127878678-chr4:127910888..127914676,3	K562	blood:
20	chr4:127929476..127931219-chr4:127932867..127935276,2	K562	blood:
21	chr4:127881584..127884044-chr4:127886785..127888817,3	K562	blood:
22	chr4:127810077..127811688-chr4:127883020..127885703,2	K562	blood:
23	chr4:127855901..127858595-chr4:127860559..127863000,3	K562	blood:
24	chr4:127699741..127703647-chr4:127875173..127879234,5	K562	blood:
25	chr4:127638496..127641456-chr4:127876411..127877938,2	K562	blood:
26	chr4:127875714..127878678-chr4:127910888..127914676,3	K562	blood:
27	chr4:127857216..127859909-chr4:127872458..127875029,2	K562	blood:
28	chr4:127894144..127897160-chr4:127898666..127901470,3	K562	blood:
29	chr4:127924575..127927200-chr4:127938335..127939945,2	K562	blood:
30	chr4:127890829..127893804-chr4:127895608..127897503,2	K562	blood:
31	chr4:127858240..127861123-chr4:127864517..127866319,2	K562	blood:
32	chr4:127686360..127688227-chr4:127875695..127877283,2	K562	blood:
33	chr4:127877293..127879243-chr4:127917275..127919666,3	K562	blood:
34	chr4:127863852..127866645-chr4:127868428..127871721,4	K562	blood:
35	chr4:127845036..127847636-chr4:127875844..127878924,3	K562	blood:
36	chr4:127860441..127862687-chr4:127888843..127890757,2	K562	blood:
37	chr4:127876070..127879293-chr4:127896514..127899164,4	K562	blood:
38	chr4:127877293..127879243-chr4:127917275..127919666,3	K562	blood:
39	chr4:127843230..127845394-chr4:127868675..127870861,2	K562	blood:
40	chr4:127880049..127882565-chr4:127896174..127898641,2	K562	blood:
41	chr4:127861655..127863830-chr4:127872405..127874629,2	K562	blood:
42	chr4:127654777..127657151-chr4:127876043..127879204,4	K562	blood:
43	chr4:127878020..127880323-chr4:127908771..127910687,2	K562	blood:
44	chr4:127761821..127763813-chr4:127877198..127878709,2	K562	blood:
45	chr4:127686781..127688466-chr4:127878771..127880801,2	K562	blood:
46	chr4:127846136..127847995-chr4:127877424..127879042,2	K562	blood:
47	chr4:127695739..127697770-chr4:127877137..127879165,2	K562	blood:
48	chr4:127838477..127841001-chr4:127876179..127878168,3	K562	blood:
49	chr4:127875956..127880982-chr4:127903671..127906140,4	K562	blood:
50	chr4:127837336..127840595-chr4:127841845..127844846,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-6	chr4:127876447-127876561	ENSG00000249178

No data

Variant related genes	Relation type
ENSG00000199862	chromatin interactions

Extended variants
information (count: 2806 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11735147	chr4:127844803-127844804	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567269965	chr4:127844837-127844838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563489076	chr4:127844875-127844876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551314006	chr4:127844897-127844898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs12505925	chr4:127844917-127844918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs530803051	chr4:127844967-127844968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150948766	chr4:127844985-127844986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561335215	chr4:127845006-127845007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114335957	chr4:127845035-127845036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547686041	chr4:127845045-127845046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187555991	chr4:127845086-127845087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556008572	chr4:127845110-127845111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192421231	chr4:127845145-127845146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71610195	chr4:127845164-127845165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140741850	chr4:127845175-127845176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537146822	chr4:127845184-127845185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555036707	chr4:127845197-127845198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574268191	chr4:127845232-127845233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534994786	chr4:127845297-127845298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553659579	chr4:127845320-127845321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373272633	chr4:127845330-127845331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545234656	chr4:127845341-127845342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34597806	chr4:127845421-127845422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575285206	chr4:127845443-127845444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184921191	chr4:127845475-127845476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189008577	chr4:127845673-127845674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114983200	chr4:127845711-127845712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540944190	chr4:127845725-127845726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115433213	chr4:127845734-127845735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114727829	chr4:127845775-127845776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569887305	chr4:127845790-127845791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72923277	chr4:127845926-127845927	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549098631	chr4:127845931-127845932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567824184	chr4:127845959-127845960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192686226	chr4:127846006-127846007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149660899	chr4:127846008-127846009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200334074	chr4:127846028-127846029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553383684	chr4:127846029-127846030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147975898	chr4:127846109-127846110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538948095	chr4:127846161-127846162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141851119	chr4:127846184-127846185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575447506	chr4:127846190-127846191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs58999577	chr4:127846221-127846222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184535116	chr4:127846224-127846225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555072654	chr4:127846231-127846232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573151355	chr4:127846275-127846276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369403511	chr4:127846294-127846295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538558534	chr4:127846332-127846333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189783629	chr4:127846347-127846348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147104233	chr4:127846367-127846368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127838400-127860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127844400-127845000	ZNF genes & repeats	K562	blood
3	chr4:127845000-127845800	Weak transcription	K562	blood
4	chr4:127845800-127846200	ZNF genes & repeats	K562	blood
5	chr4:127846200-127847800	Weak transcription	K562	blood
6	chr4:127847800-127848000	ZNF genes & repeats	K562	blood
7	chr4:127848000-127848200	Strong transcription	K562	blood
8	chr4:127848200-127857000	Weak transcription	K562	blood
9	chr4:127857000-127857200	ZNF genes & repeats	K562	blood
10	chr4:127857200-127857400	Enhancers	NHDF-Ad	bronchial
11	chr4:127857200-127862600	Weak transcription	K562	blood
12	chr4:127857600-127857800	Enhancers	HSMM	muscle
13	chr4:127858000-127859000	Weak transcription	HSMM	muscle
14	chr4:127858400-127861000	Enhancers	Fetal Lung	lung
15	chr4:127858600-127861200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:127858800-127861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:127859000-127859200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:127859000-127861200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:127859000-127861200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:127859000-127861200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:127859000-127861400	Enhancers	HSMM	muscle
22	chr4:127859200-127861400	Enhancers	NHDF-Ad	bronchial
23	chr4:127859200-127862200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:127859400-127859600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:127859400-127861200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:127859400-127861200	Enhancers	NH-A	brain
27	chr4:127859400-127861200	Enhancers	Osteobl	bone
28	chr4:127859800-127860800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:127860000-127861200	Enhancers	HMEC	breast
30	chr4:127860000-127861200	Enhancers	NHEK	skin
31	chr4:127860200-127861200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:127860200-127861200	Enhancers	NHLF	lung
33	chr4:127860400-127861200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:127860800-127861200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:127860800-127861200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:127860800-127861400	Enhancers	HSMMtube	muscle
37	chr4:127860800-127861600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:127861200-127864000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:127862600-127864400	Strong transcription	K562	blood
40	chr4:127864000-127864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:127864400-127866000	Weak transcription	K562	blood
42	chr4:127866000-127866600	Strong transcription	K562	blood
43	chr4:127866600-127869600	Weak transcription	K562	blood
44	chr4:127869600-127869800	Genic enhancers	K562	blood
45	chr4:127869800-127870800	Weak transcription	K562	blood
46	chr4:127870800-127871400	Genic enhancers	K562	blood
47	chr4:127871400-127871600	Enhancers	K562	blood
48	chr4:127871600-127873000	Weak transcription	K562	blood
49	chr4:127873000-127879600	Active TSS	K562	blood
50	chr4:127875000-127875600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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