Variant report

Variant	esv3407557
Chromosome Location	chr8:54348448-54395357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OPRK1-3	chr8:54394342-54394441	NONHSAT126591

Extended variants
information (count: 1116 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13260314	chr8:54348461-54348462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368026196	chr8:54348563-54348564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149635576	chr8:54348589-54348590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181670842	chr8:54348617-54348618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567109634	chr8:54348668-54348669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536242449	chr8:54348671-54348672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553150587	chr8:54348752-54348753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566550526	chr8:54348767-54348768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76396653	chr8:54348813-54348814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558432558	chr8:54348816-54348817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187575991	chr8:54348817-54348818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544138216	chr8:54348819-54348820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554840669	chr8:54348823-54348824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13271936	chr8:54348837-54348838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144376636	chr8:54348851-54348852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560249875	chr8:54348872-54348873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7835893	chr8:54348873-54348874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191947035	chr8:54348917-54348918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562890916	chr8:54348927-54348928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141028398	chr8:54348931-54348932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144774515	chr8:54348955-54348956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182465072	chr8:54348985-54348986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147521963	chr8:54348992-54348993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530016323	chr8:54349033-54349034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529740952	chr8:54349079-54349080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546603378	chr8:54349091-54349092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12679994	chr8:54349095-54349096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538691474	chr8:54349105-54349106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574134976	chr8:54349122-54349123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568999384	chr8:54349175-54349176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72653331	chr8:54349226-54349227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12681500	chr8:54349232-54349233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375498581	chr8:54349237-54349238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189671911	chr8:54349243-54349244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140389962	chr8:54349258-54349259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552502780	chr8:54349285-54349286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55657983	chr8:54349286-54349287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182760531	chr8:54349292-54349293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545933564	chr8:54349317-54349318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376798760	chr8:54349372-54349373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562989468	chr8:54349433-54349434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187850082	chr8:54349452-54349453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542386225	chr8:54349482-54349483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538044578	chr8:54349489-54349490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562401740	chr8:54349494-54349495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527955040	chr8:54349513-54349514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6991389	chr8:54349530-54349531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371440943	chr8:54349543-54349544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560149705	chr8:54349553-54349554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557076940	chr8:54349554-54349555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54340000-54354400	Weak transcription	Aorta	Aorta
2	chr8:54354400-54355600	ZNF genes & repeats	Aorta	Aorta
3	chr8:54355200-54355400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:54355600-54356000	Weak transcription	Aorta	Aorta
5	chr8:54367200-54367400	Enhancers	Fetal Heart	heart
6	chr8:54367400-54372000	Weak transcription	Fetal Heart	heart
7	chr8:54382800-54389800	Weak transcription	Fetal Heart	heart
8	chr8:54382800-54399400	Weak transcription	Aorta	Aorta
9	chr8:54383200-54384800	Weak transcription	Ovary	ovary
10	chr8:54389800-54390200	Enhancers	Fetal Heart	heart
11	chr8:54390200-54393200	Weak transcription	Fetal Heart	heart
12	chr8:54392800-54393000	Enhancers	Right Ventricle	heart
13	chr8:54393000-54395800	Weak transcription	Right Ventricle	heart
14	chr8:54393200-54394000	Enhancers	Fetal Heart	heart
15	chr8:54393600-54394600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54393800-54394200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54394000-54394200	Flanking Active TSS	Fetal Heart	heart
18	chr8:54394000-54394600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54394000-54395000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:54394200-54394400	Enhancers	Fetal Heart	heart
21	chr8:54394200-54394600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:54394200-54397400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:54394400-54394600	Flanking Active TSS	Fetal Heart	heart
24	chr8:54394600-54395200	Enhancers	Fetal Heart	heart
25	chr8:54394600-54397200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:54394800-54395800	Enhancers	Ovary	ovary
27	chr8:54395000-54396600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:54395200-54395400	Flanking Active TSS	Fetal Heart	heart

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