Variant report

Variant	esv2760918
Chromosome Location	chr4:132926925-132949281
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	chr10:16933616..16934139-chr4:132930526..132931027,2	HCT-116	colon:
2	chr11:46257959..46258806-chr4:132939267..132939767,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-12	chr4:132931815-132932069	l_2731_chr4:132914718-132932069_testes
2	lnc-RP11-62N21.1.1-1	chr4:132948330-132948587	XLOC_004078

Extended variants
information (count: 184 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs544946304	chr4:132931932-132931933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs565187911	chr4:132931963-132931964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545143179	chr4:132932006-132932007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs72921101	chr4:132932045-132932046	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35581614	chr4:132935425-132935426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397878324	chr4:132935435-132935436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117020021	chr4:132935442-132935443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540716315	chr4:132935445-132935446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570712072	chr4:132935460-132935461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533108912	chr4:132935478-132935479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13121011	chr4:132935517-132935518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13148496	chr4:132935625-132935626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529054528	chr4:132935666-132935667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140898459	chr4:132935689-132935690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12505153	chr4:132935692-132935693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35575106	chr4:132935735-132935736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535018310	chr4:132935741-132935742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397879009	chr4:132935744-132935745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201269634	chr4:132935745-132935746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112624760	chr4:132935759-132935760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35958903	chr4:132935760-132935761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397879732	chr4:132935772-132935773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538634746	chr4:132935849-132935850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144818609	chr4:132935859-132935860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558625969	chr4:132935914-132935915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571896619	chr4:132935915-132935916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183001386	chr4:132935961-132935962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75345135	chr4:132935990-132935991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574238413	chr4:132935992-132935993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561703296	chr4:132936001-132936002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540798675	chr4:132936068-132936069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150305975	chr4:132936163-132936164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369951238	chr4:132936164-132936165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557533927	chr4:132936185-132936186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555498343	chr4:132936186-132936187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578253522	chr4:132936193-132936194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572074977	chr4:132936244-132936245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202223921	chr4:132936258-132936259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547539194	chr4:132936309-132936310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577586323	chr4:132936350-132936351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569395659	chr4:132936354-132936355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188608158	chr4:132936385-132936386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77501281	chr4:132936386-132936387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193254526	chr4:132936427-132936428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548814969	chr4:132936436-132936437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559777564	chr4:132936456-132936457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528615558	chr4:132936477-132936478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140433949	chr4:132936532-132936533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571523718	chr4:132936543-132936544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537447618	chr4:132936585-132936586	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132935400-132937200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:132937800-132938000	Enhancers	Fetal Intestine Large	intestine
3	chr4:132938200-132938800	Enhancers	Fetal Intestine Small	intestine
4	chr4:132938600-132938800	Enhancers	Fetal Intestine Large	intestine
5	chr4:132946600-132948000	Enhancers	Fetal Brain Male	brain
6	chr4:132946600-132948600	Enhancers	Fetal Intestine Large	intestine
7	chr4:132946600-132948600	Enhancers	Fetal Intestine Small	intestine
8	chr4:132947200-132947600	Enhancers	Dnd41	blood
9	chr4:132947200-132947800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:132947400-132947800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:132947400-132947800	Enhancers	Brain Germinal Matrix	brain
12	chr4:132947400-132948000	Enhancers	Fetal Brain Female	brain
13	chr4:132947400-132948200	Enhancers	Fetal Lung	lung
14	chr4:132947400-132948600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:132947600-132948000	Enhancers	NHEK	skin
16	chr4:132947600-132948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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