Variant report

Variant	esv3525603
Chromosome Location	chr1:171408178-171413176
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	chr1:171404013..171405651-chr1:171411065..171412627,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOC-4	chr1:171410062-171410336	NONHSAT007529
2	lnc-MYOC-4	chr1:171410851-171411265	NONHSAT007529

Extended variants
information (count: 223 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576448312	chr1:171408191-171408192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545182117	chr1:171408206-171408207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61816631	chr1:171408214-171408215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34549293	chr1:171408224-171408225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558475158	chr1:171408225-171408226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577128053	chr1:171408226-171408227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116437861	chr1:171408333-171408334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553396462	chr1:171408343-171408344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559613164	chr1:171408371-171408372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78835004	chr1:171408373-171408374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372637784	chr1:171408424-171408425	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542391976	chr1:171408425-171408426	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563250837	chr1:171408429-171408430	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111621250	chr1:171408445-171408446	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552213808	chr1:171408461-171408462	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141712237	chr1:171408468-171408469	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528093176	chr1:171408473-171408474	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577340995	chr1:171408482-171408483	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546944393	chr1:171408596-171408597	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568329730	chr1:171408597-171408598	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189302672	chr1:171408615-171408616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550722987	chr1:171408620-171408621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143724437	chr1:171408653-171408654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561941381	chr1:171408654-171408655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180889696	chr1:171408692-171408693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79240231	chr1:171408702-171408703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558616468	chr1:171408766-171408767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576871761	chr1:171408809-171408810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534675407	chr1:171408830-171408831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553422433	chr1:171408833-171408834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575039735	chr1:171408876-171408877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183518981	chr1:171408919-171408920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559761151	chr1:171408933-171408934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201527874	chr1:171408934-171408935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79800910	chr1:171408935-171408936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397981940	chr1:171408948-171408949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371239846	chr1:171408998-171408999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11804544	chr1:171409004-171409005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11804545	chr1:171409006-171409007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188547421	chr1:171409045-171409046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80197619	chr1:171409046-171409047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545970548	chr1:171409055-171409056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11583893	chr1:171409061-171409062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181056013	chr1:171409146-171409147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547265158	chr1:171409150-171409151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143774376	chr1:171409160-171409161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530929226	chr1:171409162-171409163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552468212	chr1:171409181-171409182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11804581	chr1:171409187-171409188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550510618	chr1:171409333-171409334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171398800-171408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:171404800-171410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:171407000-171411000	Enhancers	NHEK	skin
4	chr1:171407200-171408400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:171407200-171408400	Enhancers	HSMM	muscle
6	chr1:171407200-171408600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:171407200-171408600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:171407200-171408800	Enhancers	HMEC	breast
9	chr1:171407200-171409200	Enhancers	Hela-S3	cervix
10	chr1:171407200-171411000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:171407400-171408400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:171407400-171408400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:171407400-171408400	Enhancers	A549	lung
14	chr1:171407400-171408400	Enhancers	HUVEC	blood vessel
15	chr1:171407400-171408400	Enhancers	NH-A	brain
16	chr1:171407400-171408600	Enhancers	Osteobl	bone
17	chr1:171407400-171409000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:171407400-171411200	Enhancers	NHDF-Ad	bronchial
19	chr1:171407600-171408200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:171407600-171408400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:171407800-171408800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:171407800-171409200	Enhancers	NHLF	lung
23	chr1:171408200-171409000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:171408400-171408600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:171408400-171410200	Weak transcription	HUVEC	blood vessel
26	chr1:171408400-171410400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:171408400-171410600	Weak transcription	NH-A	brain
28	chr1:171408400-171410800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:171408600-171410400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:171408600-171410600	Weak transcription	Osteobl	bone
31	chr1:171408800-171410600	Weak transcription	HMEC	breast
32	chr1:171409000-171415200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:171409200-171410200	Weak transcription	Hela-S3	cervix
34	chr1:171410200-171410400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:171410200-171410800	Enhancers	HUVEC	blood vessel
36	chr1:171410200-171411200	Enhancers	Hela-S3	cervix
37	chr1:171410400-171411200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:171410400-171411200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:171410600-171410800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:171410600-171410800	Enhancers	NH-A	brain
41	chr1:171410600-171411000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:171410600-171411200	Enhancers	HMEC	breast
43	chr1:171410600-171411200	Enhancers	Osteobl	bone
44	chr1:171410800-171411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:171411200-171413800	Weak transcription	NHDF-Ad	bronchial
46	chr1:171411200-171415000	Weak transcription	Osteobl	bone

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