Variant report

Variant	nsv946541
Chromosome Location	chr1:185705563-185707014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMCN1-3	chr1:185705826-185705947	NONHSAT008438
2	lnc-HMCN1-3	chr1:185705826-185705994	NONHSAT008437

Extended variants
information (count: 57 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370345323	chr1:185705565-185705566	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10737262	chr1:185705594-185705595	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10737263	chr1:185705601-185705602	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12239329	chr1:185705602-185705603	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376240434	chr1:185705608-185705609	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10737264	chr1:185705614-185705615	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10737265	chr1:185705627-185705628	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114288702	chr1:185705635-185705636	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138042839	chr1:185705667-185705668	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs61074374	chr1:185705669-185705670	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370347662	chr1:185705689-185705690	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531241009	chr1:185705767-185705768	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7364403	chr1:185705768-185705769	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7364387	chr1:185705774-185705775	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559254378	chr1:185705787-185705788	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530740285	chr1:185705810-185705811	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549170474	chr1:185705880-185705881	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185129644	chr1:185705883-185705884	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs34537135	chr1:185705928-185705929	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs529389178	chr1:185705952-185705953	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs550955192	chr1:185706020-185706021	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188561377	chr1:185706036-185706037	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7365737	chr1:185706039-185706040	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2035497	chr1:185706090-185706091	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74133273	chr1:185706109-185706110	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142050411	chr1:185706138-185706139	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539406985	chr1:185706217-185706218	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201550535	chr1:185706280-185706281	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552063342	chr1:185706281-185706282	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199628630	chr1:185706288-185706289	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386637566	chr1:185706290-185706291	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569982669	chr1:185706295-185706296	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76508174	chr1:185706304-185706305	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74799039	chr1:185706305-185706306	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147311572	chr1:185706340-185706341	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555520793	chr1:185706343-185706344	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114956172	chr1:185706377-185706378	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191872995	chr1:185706383-185706384	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116770030	chr1:185706386-185706387	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566666696	chr1:185706411-185706412	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139324881	chr1:185706412-185706413	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569543349	chr1:185706415-185706416	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372526676	chr1:185706462-185706463	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563595718	chr1:185706490-185706491	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183953586	chr1:185706493-185706494	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200866019	chr1:185706538-185706539	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114840659	chr1:185706563-185706564	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149439526	chr1:185706568-185706569	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116541437	chr1:185706645-185706646	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547870076	chr1:185706684-185706685	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185702800-185706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:185703000-185705800	Active TSS	NHDF-Ad	bronchial
3	chr1:185704000-185706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:185704000-185706400	Active TSS	Adipose Nuclei	Adipose
5	chr1:185704000-185714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:185705200-185705800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:185705200-185705800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:185705200-185706200	Weak transcription	Psoas Muscle	Psoas
9	chr1:185705200-185707200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:185705200-185717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:185705400-185705600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:185705400-185706200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:185705400-185706200	Weak transcription	Fetal Lung	lung
14	chr1:185705400-185707000	Weak transcription	Aorta	Aorta
15	chr1:185705400-185710800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:185705600-185705800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:185705800-185710200	Weak transcription	NHDF-Ad	bronchial
18	chr1:185706200-185706400	Enhancers	Fetal Lung	lung
19	chr1:185706200-185706600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:185706200-185707200	Enhancers	Psoas Muscle	Psoas
21	chr1:185706400-185706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:185706400-185706600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:185706400-185706600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:185706400-185706600	Enhancers	Right Atrium	heart
25	chr1:185706400-185706800	Weak transcription	Fetal Lung	lung
26	chr1:185706600-185707400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:185707000-185707200	Enhancers	Adipose Nuclei	Adipose
28	chr1:185707000-185707400	Enhancers	Aorta	Aorta

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