Variant report

Variant	esv2760886
Chromosome Location	chr4:118381291-118396201
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	4:118387398-118387878..4:118667424-118683756	Hela-S3	cervix:
2	4:118383653-118385442..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-4	chr4:118385627-118385693	ENSG00000236922
2	lnc-NDST3-4	chr4:118389305-118389388	ENSG00000236922

Extended variants
information (count: 372 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533689438	chr4:118381643-118381644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552156366	chr4:118381652-118381653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143258403	chr4:118381721-118381722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186049186	chr4:118381733-118381734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528186869	chr4:118381741-118381742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548006623	chr4:118381742-118381743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568229878	chr4:118381774-118381775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189249608	chr4:118381788-118381789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552559235	chr4:118381842-118381843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557137871	chr4:118381861-118381862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570363507	chr4:118381891-118381892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539356179	chr4:118381946-118381947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552937453	chr4:118382031-118382032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559797196	chr4:118382033-118382034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17861947	chr4:118382057-118382058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181778652	chr4:118382088-118382089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76308038	chr4:118382133-118382134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544451467	chr4:118382156-118382157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564672981	chr4:118382196-118382197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17865156	chr4:118382198-118382199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112541783	chr4:118382209-118382210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540969518	chr4:118382273-118382274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559368936	chr4:118382323-118382324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186473921	chr4:118382357-118382358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528106905	chr4:118382362-118382363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372882613	chr4:118382365-118382366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375818485	chr4:118382390-118382391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548183826	chr4:118382393-118382394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150028419	chr4:118382396-118382397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76277437	chr4:118382447-118382448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550459540	chr4:118382495-118382496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190909365	chr4:118382523-118382524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182658926	chr4:118382525-118382526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373121804	chr4:118382531-118382532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17867427	chr4:118382586-118382587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142594386	chr4:118382615-118382616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17861948	chr4:118382658-118382659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528786324	chr4:118382676-118382677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28947822	chr4:118382695-118382696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375061264	chr4:118382715-118382716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186199921	chr4:118382724-118382725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575602762	chr4:118382725-118382726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139804213	chr4:118385642-118385643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs74657416	chr4:118385664-118385665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs367598417	chr4:118387204-118387205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575999889	chr4:118387270-118387271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544968143	chr4:118387311-118387312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144912738	chr4:118387375-118387376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564830263	chr4:118387378-118387379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372297508	chr4:118387383-118387384	Enhancers	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
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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118381600-118382400	Enhancers	Brain Cingulate Gyrus	brain
2	chr4:118381800-118382200	Enhancers	Brain Angular Gyrus	brain
3	chr4:118381800-118382200	Enhancers	Brain Anterior Caudate	brain
4	chr4:118381800-118382400	Enhancers	Brain Substantia Nigra	brain
5	chr4:118381800-118382800	Enhancers	Brain Hippocampus Middle	brain
6	chr4:118381800-118382800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:118387200-118388000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:118387200-118388200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:118387200-118388200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:118387200-118388600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:118387200-118388600	Enhancers	HMEC	breast
12	chr4:118387200-118388600	Enhancers	NHEK	skin
13	chr4:118388000-118400800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:118391200-118391800	Enhancers	Dnd41	blood
15	chr4:118391200-118392000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:118391800-118392800	Flanking Active TSS	Dnd41	blood
17	chr4:118392800-118393200	Enhancers	Dnd41	blood
18	chr4:118393200-118396200	Weak transcription	Dnd41	blood
19	chr4:118394600-118394800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:118395000-118396400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:118396200-118396800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:118396200-118397000	Enhancers	Dnd41	blood

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