Variant report

Variant	nsv966200
Chromosome Location	chr4:76105747-76114266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCHY1-7	chr4:76110978-76111910	ucscGeneNc_uc003hii_2
2	lnc-RCHY1-7	chr4:76113725-76113875	ucscGeneNc_uc003hii_2

Extended variants
information (count: 160 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546172143	chr4:76105749-76105750	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181836761	chr4:76105809-76105810	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370645877	chr4:76105876-76105877	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576600247	chr4:76105883-76105884	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543632168	chr4:76105890-76105891	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551201768	chr4:76105891-76105892	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529051416	chr4:76105900-76105901	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547384893	chr4:76105924-76105925	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559177289	chr4:76105925-76105926	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147802540	chr4:76105943-76105944	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550955342	chr4:76105968-76105969	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186042437	chr4:76105983-76105984	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs6842741	chr4:76106008-76106009	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191630004	chr4:76106053-76106054	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568572987	chr4:76106055-76106056	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562892763	chr4:76106082-76106083	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs141203576	chr4:76106087-76106088	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7685095	chr4:76106090-76106091	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs572772950	chr4:76106113-76106114	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150457661	chr4:76106158-76106159	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558166499	chr4:76106159-76106160	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576478077	chr4:76106160-76106161	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs56000827	chr4:76106179-76106180	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562171981	chr4:76106185-76106186	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79576329	chr4:76106211-76106212	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149228750	chr4:76106212-76106213	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529991547	chr4:76106222-76106223	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143390999	chr4:76106226-76106227	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376330307	chr4:76106232-76106233	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs6535036	chr4:76106260-76106261	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562964245	chr4:76106262-76106263	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530488802	chr4:76106269-76106270	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs6856948	chr4:76106280-76106281	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548812238	chr4:76106443-76106444	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567307436	chr4:76106456-76106457	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576841536	chr4:76106464-76106465	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539038498	chr4:76106474-76106475	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535722041	chr4:76106490-76106491	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547959245	chr4:76106534-76106535	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558182885	chr4:76106543-76106544	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs56823709	chr4:76106563-76106564	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368602843	chr4:76106590-76106591	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576514329	chr4:76106598-76106599	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372529497	chr4:76106605-76106606	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138827876	chr4:76106619-76106620	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs80142374	chr4:76106631-76106632	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs145620312	chr4:76106632-76106633	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577517436	chr4:76106636-76106637	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181338672	chr4:76106662-76106663	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556776286	chr4:76106666-76106667	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76105600-76105800	Enhancers	Placenta	Placenta
2	chr4:76105600-76106200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:76105600-76106200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:76105600-76107000	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:76105600-76107200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:76105800-76106000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:76105800-76106000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr4:76105800-76106400	Flanking Active TSS	Placenta	Placenta
9	chr4:76105800-76106600	Enhancers	Stomach Mucosa	stomach
10	chr4:76105800-76106600	Active TSS	HepG2	liver
11	chr4:76105800-76106800	Active TSS	Colonic Mucosa	Colon
12	chr4:76105800-76107200	Enhancers	Dnd41	blood
13	chr4:76106000-76106200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:76106000-76106200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:76106000-76106200	Active TSS	Adipose Nuclei	Adipose
16	chr4:76106000-76106200	Enhancers	GM12878-XiMat	blood
17	chr4:76106000-76106200	Active TSS	Hela-S3	cervix
18	chr4:76106000-76106400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:76106000-76106400	Active TSS	Colon Smooth Muscle	Colon
20	chr4:76106000-76106400	Active TSS	Pancreas	Pancrea
21	chr4:76106000-76106400	Active TSS	Osteobl	bone
22	chr4:76106000-76106600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:76106000-76106600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr4:76106000-76106600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:76106000-76106800	Active TSS	Rectal Smooth Muscle	rectum
26	chr4:76106000-76107000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:76106200-76106400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:76106200-76106400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:76106200-76106400	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:76106200-76106400	Enhancers	NHLF	lung
31	chr4:76106200-76106600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr4:76106200-76106600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr4:76106200-76106600	Flanking Active TSS	Hela-S3	cervix
34	chr4:76106200-76106600	Enhancers	K562	blood
35	chr4:76106200-76106800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:76106200-76107000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:76106200-76107000	Flanking Active TSS	GM12878-XiMat	blood
38	chr4:76106400-76106600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:76106400-76106800	Enhancers	Colon Smooth Muscle	Colon
40	chr4:76106400-76107000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:76106400-76107200	Enhancers	Placenta	Placenta
42	chr4:76106600-76106800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:76106600-76106800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:76106600-76106800	Enhancers	Hela-S3	cervix
45	chr4:76106600-76106800	Flanking Active TSS	HepG2	liver
46	chr4:76106600-76107000	Enhancers	Primary B cells from cord blood	blood
47	chr4:76106600-76107000	Enhancers	Adipose Nuclei	Adipose
48	chr4:76106600-76107200	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:76106800-76107200	Enhancers	Colonic Mucosa	Colon
50	chr4:76106800-76107200	Enhancers	Rectal Mucosa Donor 31	rectum

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