Variant report

Variant	nsv830095
Chromosome Location	chr4:142695078-142884988
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:18)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:142881011..142883587-chr4:142896903..142898458,2	K562	blood:
2	chr4:142782252..142782833-chr4:143767690..143768206,2	MCF-7	breast:
3	chr4:142879245..142882924-chr4:142883253..142886300,3	K562	blood:
4	chr4:142827370..142830218-chr4:142832464..142835152,2	K562	blood:
5	chr4:142815904..142818902-chr4:142830376..142833332,2	K562	blood:
6	chr4:142827370..142830218-chr4:142832464..142835152,2	K562	blood:
7	chr4:142809076..142810729-chr4:142817587..142819412,2	MCF-7	breast:
8	chr4:142879245..142882924-chr4:142883253..142886300,3	K562	blood:
9	chr4:142824141..142826608-chr4:142833396..142835637,2	K562	blood:
10	chr4:142824338..142827058-chr4:142828770..142830765,3	K562	blood:
11	chr4:142781808..142782795-chr4:143048083..143048829,2	MCF-7	breast:
12	chr4:142683419..142685394-chr4:142837554..142840288,2	K562	blood:
13	chr4:142806022..142808595-chr4:142814790..142817770,2	K562	blood:
14	chr4:142824338..142827058-chr4:142828770..142830765,3	K562	blood:
15	chr4:142815904..142818902-chr4:142830376..142833332,2	K562	blood:
16	chr4:142824141..142826608-chr4:142833396..142835637,2	K562	blood:
17	chr4:142809076..142810729-chr4:142817587..142819412,2	MCF-7	breast:
18	chr4:142806022..142808595-chr4:142814790..142817770,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4B-3	chr4:142709284-142709527	l_2743_chr4:142709283-142717472_thyroid
2	lnc-INPP4B-3	chr4:142716595-142716694	l_2743_chr4:142709283-142717472_thyroid
3	lnc-INPP4B-3	chr4:142717350-142717472	l_2743_chr4:142709283-142717472_thyroid

No data

Extended variants
information (count: 3363 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3363 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562524029	chr4:142698803-142698804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76218935	chr4:142698828-142698829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372374674	chr4:142698834-142698835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200987742	chr4:142698847-142698848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542110806	chr4:142698848-142698849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186352851	chr4:142698849-142698850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66834350	chr4:142698860-142698861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35612583	chr4:142698862-142698863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375736154	chr4:142698863-142698864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573265331	chr4:142698880-142698881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs70949133	chr4:142698883-142698884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199800968	chr4:142698884-142698885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546711463	chr4:142698897-142698898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568196367	chr4:142699100-142699101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528837506	chr4:142699101-142699102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75093567	chr4:142699121-142699122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60789684	chr4:142699152-142699153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534485028	chr4:142700616-142700617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28528751	chr4:142700646-142700647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574173879	chr4:142700662-142700663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540649561	chr4:142700672-142700673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28504216	chr4:142700741-142700742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576021573	chr4:142706014-142706015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142267491	chr4:142706050-142706051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564683862	chr4:142706054-142706055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151283067	chr4:142706071-142706072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140590884	chr4:142706103-142706104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113053059	chr4:142706188-142706189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185219258	chr4:142706729-142706730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568469348	chr4:142706782-142706783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535812945	chr4:142706811-142706812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62325682	chr4:142706905-142706906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77705911	chr4:142707042-142707043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76778122	chr4:142707045-142707046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189095042	chr4:142707070-142707071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181176472	chr4:142707106-142707107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540473961	chr4:142707116-142707117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555401607	chr4:142707123-142707124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573419012	chr4:142707125-142707126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543929719	chr4:142707142-142707143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562491735	chr4:142707159-142707160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562127172	chr4:142707169-142707170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532804280	chr4:142707194-142707195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545284945	chr4:142707205-142707206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185473019	chr4:142707214-142707215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115834330	chr4:142707234-142707235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141126896	chr4:142707260-142707261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144837144	chr4:142707283-142707284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138643325	chr4:142707353-142707354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529387035	chr4:142707380-142707381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142698800-142699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:142700600-142700800	Enhancers	Spleen	Spleen
3	chr4:142706000-142706200	Enhancers	NHDF-Ad	bronchial
4	chr4:142706600-142707800	Weak transcription	NHDF-Ad	bronchial
5	chr4:142707800-142709200	Enhancers	NHDF-Ad	bronchial
6	chr4:142707800-142709400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:142707800-142710000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:142707800-142710200	Enhancers	Osteobl	bone
9	chr4:142708200-142710400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:142708800-142709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:142709000-142709200	Enhancers	Aorta	Aorta
12	chr4:142709200-142709600	Weak transcription	NHDF-Ad	bronchial
13	chr4:142709400-142710800	Weak transcription	Aorta	Aorta
14	chr4:142709600-142710200	Enhancers	NHDF-Ad	bronchial
15	chr4:142710800-142711200	Enhancers	Aorta	Aorta
16	chr4:142719000-142719600	Enhancers	HSMM	muscle
17	chr4:142719400-142719800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:142719600-142723000	Weak transcription	HSMM	muscle
19	chr4:142719800-142722400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:142719800-142723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:142722200-142722600	Weak transcription	NHDF-Ad	bronchial
22	chr4:142722400-142722600	Enhancers	Hela-S3	cervix
23	chr4:142722400-142723200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:142722400-142723800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:142722600-142723200	Weak transcription	Hela-S3	cervix
26	chr4:142722600-142724600	Enhancers	NH-A	brain
27	chr4:142722600-142724600	Enhancers	NHDF-Ad	bronchial
28	chr4:142722600-142724600	Enhancers	Osteobl	bone
29	chr4:142722600-142724800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:142723000-142724600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:142723000-142724600	Enhancers	HSMM	muscle
32	chr4:142723200-142723600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:142723200-142724000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:142723200-142724200	Enhancers	A549	lung
35	chr4:142723200-142724800	Enhancers	Hela-S3	cervix
36	chr4:142723400-142723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:142723400-142724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:142723600-142724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:142723800-142724200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:142723800-142727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:142724000-142724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:142724000-142724800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:142724000-142725000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:142724200-142727600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:142724200-142728200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:142724200-142728600	Weak transcription	A549	lung
47	chr4:142724400-142728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:142724600-142727400	Weak transcription	NHDF-Ad	bronchial
49	chr4:142724600-142727600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:142724600-142727600	Weak transcription	NH-A	brain

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