Variant report

Variant	nsv547213
Chromosome Location	chr1:104890559-104954365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1417 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75964901	chr1:104890658-104890659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567228799	chr1:104890667-104890668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116177616	chr1:104890668-104890669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559176845	chr1:104890673-104890674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552749785	chr1:104890722-104890723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17021434	chr1:104890742-104890743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544843138	chr1:104890761-104890762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72996822	chr1:104890780-104890781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78211851	chr1:104890806-104890807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549048062	chr1:104890809-104890810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74104355	chr1:104890821-104890822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528053258	chr1:104890834-104890835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571591225	chr1:104890835-104890836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187941511	chr1:104890839-104890840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17021435	chr1:104890919-104890920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148388975	chr1:104890938-104890939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557249450	chr1:104890951-104890952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569379527	chr1:104890952-104890953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533463454	chr1:104890969-104890970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190509573	chr1:104890979-104890980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141580892	chr1:104890991-104890992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575420010	chr1:104891018-104891019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543681137	chr1:104891032-104891033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540205821	chr1:104891037-104891038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552865827	chr1:104891067-104891068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577845738	chr1:104891084-104891085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183765185	chr1:104891085-104891086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34445283	chr1:104891092-104891093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563544136	chr1:104891208-104891209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17481083	chr1:104891246-104891247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150892093	chr1:104891277-104891278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57257390	chr1:104891303-104891304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560934426	chr1:104891348-104891349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375528760	chr1:104891368-104891369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540277999	chr1:104891393-104891394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115094663	chr1:104896019-104896020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115259443	chr1:104896076-104896077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55986443	chr1:104896085-104896086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565016564	chr1:104896101-104896102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74920852	chr1:104896108-104896109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567867484	chr1:104896117-104896118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56900406	chr1:104896128-104896129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72683551	chr1:104896139-104896140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60368188	chr1:104896141-104896142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545417191	chr1:104896157-104896158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4409662	chr1:104896161-104896162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs5776726	chr1:104896179-104896180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397818362	chr1:104896185-104896186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58998214	chr1:104896208-104896209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5776727	chr1:104896264-104896265	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104890600-104891400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:104896000-104896400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:104896200-104896600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:104899200-104899400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:104899400-104900600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:104900600-104903200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:104900800-104901000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:104901000-104901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:104901800-104903000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:104903200-104904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:104904200-104905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:104911800-104913000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:104920800-104921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:104920800-104921400	Enhancers	HMEC	breast
15	chr1:104921200-104921400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:104921200-104921600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:104921200-104921600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:104921200-104921600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:104921400-104922400	Weak transcription	HMEC	breast
20	chr1:104921400-104923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:104922400-104923000	Enhancers	HMEC	breast
22	chr1:104922600-104923400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:104922800-104923200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:104923000-104923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:104929200-104931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:104930000-104931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:104930200-104933600	Enhancers	HMEC	breast
28	chr1:104930800-104931200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:104930800-104931200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:104931200-104932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:104931200-104933600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:104932600-104933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:104941000-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:104943200-104943400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:104943400-104944800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:104943800-104945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:104944400-104945200	Enhancers	Brain Germinal Matrix	brain
38	chr1:104944800-104945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:104945200-104946000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:104945400-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:104946000-104946200	Enhancers	Brain Germinal Matrix	brain
42	chr1:104948800-104949400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:104948800-104950200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:104949000-104950800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:104949200-104950400	Enhancers	Fetal Heart	heart
46	chr1:104949400-104949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:104949800-104950000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:104950000-104950400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:104950000-104950400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:104950200-104950600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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