Variant report

Variant	esv275434
Chromosome Location	chr1:192584795-192598461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS13-1	chr1:192588036-192588179	NONHSAT008538
2	lnc-RGS13-1	chr1:192586696-192586991	NONHSAT008538

Extended variants
information (count: 371 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:371 , 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	rs10754020	chr1:192584795-192584796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542914220	chr1:192584808-192584809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192841458	chr1:192584810-192584811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540077059	chr1:192584829-192584830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376650682	chr1:192584847-192584848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545417343	chr1:192584902-192584903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150189508	chr1:192584903-192584904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575213422	chr1:192584905-192584906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534722664	chr1:192584907-192584908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111683127	chr1:192584936-192584937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113151851	chr1:192584937-192584938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112446219	chr1:192584938-192584939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554218517	chr1:192584972-192584973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531314973	chr1:192586714-192586715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs548171357	chr1:192586720-192586721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs567983891	chr1:192586739-192586740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs77432542	chr1:192586747-192586748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570044864	chr1:192586803-192586804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs10754021	chr1:192586856-192586857	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148424739	chr1:192586866-192586867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183556194	chr1:192586880-192586881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs558802747	chr1:192586919-192586920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs553650206	chr1:192586930-192586931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569245873	chr1:192586939-192586940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74895317	chr1:192586948-192586949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575202352	chr1:192586966-192586967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs112824710	chr1:192588049-192588050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs568689014	chr1:192588058-192588059	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs534184171	chr1:192588099-192588100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs575900141	chr1:192589601-192589602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572525775	chr1:192589623-192589624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541680282	chr1:192589737-192589738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4319307	chr1:192589752-192589753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570465276	chr1:192589772-192589773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75900315	chr1:192589847-192589848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6428123	chr1:192589885-192589886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563495563	chr1:192589906-192589907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183294548	chr1:192589913-192589914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557784389	chr1:192589943-192589944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549206643	chr1:192589966-192589967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148326895	chr1:192589994-192589995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61821580	chr1:192590035-192590036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551129188	chr1:192590047-192590048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571132932	chr1:192590083-192590084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536904937	chr1:192590094-192590095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35826657	chr1:192590147-192590148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113034675	chr1:192590155-192590156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567144759	chr1:192590171-192590172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536271264	chr1:192590173-192590174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552776486	chr1:192590216-192590217	Weak transcription	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
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
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
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
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192582600-192585000	Enhancers	Dnd41	blood
2	chr1:192589600-192595000	Weak transcription	Stomach Mucosa	stomach
3	chr1:192594800-192596400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr1:192595000-192595200	Enhancers	Stomach Mucosa	stomach
5	chr1:192595200-192595800	Enhancers	GM12878-XiMat	blood
6	chr1:192595200-192596000	Weak transcription	Stomach Mucosa	stomach
7	chr1:192595200-192596200	Enhancers	Adipose Nuclei	Adipose
8	chr1:192595400-192596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:192595400-192596600	Enhancers	Fetal Lung	lung
10	chr1:192595400-192597000	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr1:192595400-192598400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:192595600-192596200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:192595600-192596200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:192595600-192596400	Enhancers	Fetal Intestine Small	intestine
15	chr1:192595600-192596400	Enhancers	Dnd41	blood
16	chr1:192595800-192596000	Flanking Active TSS	GM12878-XiMat	blood
17	chr1:192595800-192596200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:192595800-192596200	Enhancers	Aorta	Aorta
19	chr1:192595800-192596200	Enhancers	Fetal Heart	heart
20	chr1:192595800-192596200	Enhancers	Right Ventricle	heart
21	chr1:192595800-192596400	Enhancers	Fetal Intestine Large	intestine
22	chr1:192596000-192596200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:192596000-192596200	Enhancers	Left Ventricle	heart
24	chr1:192596000-192596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:192596000-192596400	Enhancers	Stomach Mucosa	stomach
26	chr1:192596000-192596400	Enhancers	GM12878-XiMat	blood
27	chr1:192596200-192596400	Enhancers	Right Atrium	heart
28	chr1:192596200-192597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:192596200-192597200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:192596200-192597200	Weak transcription	Left Ventricle	heart
31	chr1:192596200-192597600	Weak transcription	Fetal Heart	heart
32	chr1:192596200-192597800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:192596200-192597800	Weak transcription	Right Ventricle	heart
34	chr1:192596200-192598000	Weak transcription	Aorta	Aorta
35	chr1:192596200-192602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:192596400-192596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:192596400-192597800	Weak transcription	Right Atrium	heart
38	chr1:192596400-192599600	Weak transcription	Stomach Mucosa	stomach
39	chr1:192596400-192601800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:192596600-192597000	Weak transcription	Fetal Lung	lung
41	chr1:192596800-192598400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:192596800-192598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:192597000-192605600	Enhancers	Fetal Lung	lung
44	chr1:192597200-192598000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:192597200-192598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:192597200-192598600	Enhancers	Left Ventricle	heart
47	chr1:192597600-192599000	Enhancers	Fetal Heart	heart
48	chr1:192597600-192599000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr1:192597800-192598000	Enhancers	Right Atrium	heart
50	chr1:192597800-192598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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