Variant report

Variant	nsv947508
Chromosome Location	chr1:165445780-165455520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165444759..165446680-chr1:165448949..165451599,2	MCF-7	breast:
2	chr1:165444759..165446680-chr1:165448949..165451599,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXRG-1	chr1:165446085-165446352	NONHSAT007311
2	lnc-RXRG-1	chr1:165451586-165451844	NONHSAT007311
3	lnc-RXRG-1	chr1:165446085-165446352	NONHSAT007312
4	lnc-RXRG-1	chr1:165451586-165451844	NONHSAT007312

No data

Extended variants
information (count: 392 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs191613641	chr1:165445804-165445805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566439658	chr1:165445813-165445814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369908198	chr1:165445849-165445850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78062909	chr1:165445854-165445855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572822093	chr1:165445872-165445873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577780616	chr1:165445892-165445893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545252403	chr1:165445906-165445907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371522393	chr1:165445942-165445943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537267621	chr1:165445979-165445980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375893663	chr1:165446005-165446006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542915882	chr1:165446035-165446036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150711815	chr1:165446039-165446040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74643938	chr1:165446053-165446054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137922545	chr1:165446111-165446112	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559746065	chr1:165446133-165446134	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs115544081	chr1:165446149-165446150	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142415122	chr1:165446154-165446155	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs565253295	chr1:165446158-165446159	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs530698910	chr1:165446165-165446166	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs544423965	chr1:165446178-165446179	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs145971394	chr1:165446199-165446200	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530060486	chr1:165446223-165446224	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs546254300	chr1:165446227-165446228	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs61736033	chr1:165446260-165446261	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs183478268	chr1:165446262-165446263	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552221257	chr1:165446299-165446300	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573118369	chr1:165446344-165446345	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs568613596	chr1:165446360-165446361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537208783	chr1:165446393-165446394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4657448	chr1:165446405-165446406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139694806	chr1:165446434-165446435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188071755	chr1:165446465-165446466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115123394	chr1:165446574-165446575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573158760	chr1:165446583-165446584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144446478	chr1:165446584-165446585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558964142	chr1:165446629-165446630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575846474	chr1:165446689-165446690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116630181	chr1:165446690-165446691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561090961	chr1:165446711-165446712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529998252	chr1:165446733-165446734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568904462	chr1:165446738-165446739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145994468	chr1:165446739-165446740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57091317	chr1:165446740-165446741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201556562	chr1:165446741-165446742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201872074	chr1:165446742-165446743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540485842	chr1:165446749-165446750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560208811	chr1:165446755-165446756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114361499	chr1:165446763-165446764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551893366	chr1:165446769-165446770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568603964	chr1:165446845-165446846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	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
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
Breast cancer	17899364	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
Type 2 diabetes	19141583	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
Breast cancer	21509527	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
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165438600-165453200	Weak transcription	Fetal Heart	heart
2	chr1:165439600-165445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:165443000-165451400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:165445600-165446400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165445800-165446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:165446400-165451200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165446400-165451200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:165450600-165452000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:165451200-165451600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:165451200-165451600	Enhancers	Hela-S3	cervix
11	chr1:165451200-165451600	Enhancers	HSMMtube	muscle
12	chr1:165451200-165451800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:165451200-165451800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:165451200-165452000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:165451200-165452000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:165451200-165452200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:165451200-165452200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:165451200-165452200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:165451200-165452200	Enhancers	HMEC	breast
20	chr1:165451200-165452400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:165451400-165451800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:165451400-165451800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:165451400-165451800	Enhancers	A549	lung
24	chr1:165451400-165452000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:165451400-165452000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:165451400-165452000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:165451400-165452000	Enhancers	Fetal Muscle Leg	muscle
28	chr1:165451400-165452000	Enhancers	NHDF-Ad	bronchial
29	chr1:165451400-165452200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:165451400-165452200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:165451600-165451800	Enhancers	Left Ventricle	heart
32	chr1:165451600-165451800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:165451600-165451800	Flanking Active TSS	HSMMtube	muscle
34	chr1:165451600-165452000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:165451600-165452000	Bivalent Enhancer	NHEK	skin
36	chr1:165451800-165452000	Enhancers	HSMMtube	muscle
37	chr1:165451800-165454200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:165451800-165459000	Weak transcription	Left Ventricle	heart
39	chr1:165452000-165452200	Bivalent Enhancer	HSMMtube	muscle
40	chr1:165452000-165453400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:165452200-165453400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:165453200-165453600	Enhancers	Psoas Muscle	Psoas
43	chr1:165453200-165454400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:165453200-165456400	Enhancers	Fetal Heart	heart
45	chr1:165453400-165453600	Bivalent Enhancer	HSMMtube	muscle
46	chr1:165453400-165454000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:165453400-165454000	Enhancers	Fetal Muscle Leg	muscle
48	chr1:165453400-165454400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:165453600-165455600	Weak transcription	Psoas Muscle	Psoas
50	chr1:165454000-165459400	Weak transcription	Fetal Muscle Leg	muscle

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