Variant report

Variant	esv3336477
Chromosome Location	chr4:118598398-118639356
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	4:118636913-118638401..4:118638401-118638661	Hela-S3	cervix:
2	4:118636913-118638401..4:118638401-118638661	Hela-S3	cervix:
3	4:118312235-118312291..4:118636913-118638401	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-4	chr4:118610091-118612343	ENSG00000236922.5
2	lnc-NDST3-4	chr4:118610091-118610279	ENSG00000236922.5

Extended variants
information (count: 176 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs554462351	chr4:118600200-118600201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183858201	chr4:118600201-118600202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149663558	chr4:118600250-118600251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2892756	chr4:118600261-118600262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574856009	chr4:118600263-118600264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543907415	chr4:118600264-118600265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563680997	chr4:118600268-118600269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9995563	chr4:118600272-118600273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577785411	chr4:118600303-118600304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540089747	chr4:118600342-118600343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187048741	chr4:118600377-118600378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529221068	chr4:118600392-118600393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2389385	chr4:118600402-118600403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192812866	chr4:118600410-118600411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79379613	chr4:118600431-118600432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111666538	chr4:118600436-118600437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571732965	chr4:118600464-118600465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190357114	chr4:118600479-118600480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182546177	chr4:118600539-118600540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547698917	chr4:118600544-118600545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183714313	chr4:118600548-118600549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536556086	chr4:118600558-118600559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556396131	chr4:118600563-118600564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188162178	chr4:118600574-118600575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113866737	chr4:118600593-118600594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201152984	chr4:118600595-118600596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398107897	chr4:118600596-118600597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573964925	chr4:118610103-118610104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs17864939	chr4:118610112-118610113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs146619361	chr4:118610122-118610123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs140169377	chr4:118610141-118610142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs182222775	chr4:118610144-118610145	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs2061469	chr4:118610163-118610164	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527851595	chr4:118610165-118610166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2061470	chr4:118610216-118610217	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs561274800	chr4:118610218-118610219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs535472971	chr4:118610245-118610246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530324500	chr4:118610294-118610295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs200776031	chr4:118610377-118610378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs1459551	chr4:118610383-118610384	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs568719550	chr4:118610387-118610388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs143869338	chr4:118610427-118610428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs556109178	chr4:118610448-118610449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs560484896	chr4:118610480-118610481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs1459552	chr4:118610504-118610505	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1459553	chr4:118610508-118610509	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569616311	chr4:118610521-118610522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554351924	chr4:118610559-118610560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146882493	chr4:118610566-118610567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs140423174	chr4:118610571-118610572	Inactive region	lncRNA	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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118600200-118600400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:118600200-118600600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:118600200-118600600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:118600200-118600600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:118600200-118600600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:118620800-118621400	Enhancers	Dnd41	blood
7	chr4:118623400-118624400	Enhancers	Liver	Liver

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