Variant report

Variant	nsv547216
Chromosome Location	chr1:104911326-104980964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1131 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373992396	chr1:104911806-104911807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555662842	chr1:104911811-104911812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576351337	chr1:104911821-104911822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9729491	chr1:104911847-104911848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78868881	chr1:104911848-104911849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150171830	chr1:104911876-104911877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138637848	chr1:104911883-104911884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34237409	chr1:104911895-104911896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs80131453	chr1:104911925-104911926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77755965	chr1:104911932-104911933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563939815	chr1:104911961-104911962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200704953	chr1:104911983-104911984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567169130	chr1:104911984-104911985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144459955	chr1:104911993-104911994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531307226	chr1:104912003-104912004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71076539	chr1:104912008-104912009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550233255	chr1:104912076-104912077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193164279	chr1:104912102-104912103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116487471	chr1:104912147-104912148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76604569	chr1:104912160-104912161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184037025	chr1:104912181-104912182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539957061	chr1:104912205-104912206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188766279	chr1:104912207-104912208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576388652	chr1:104912212-104912213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114518828	chr1:104912229-104912230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142714693	chr1:104912241-104912242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575093142	chr1:104912251-104912252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562438107	chr1:104912303-104912304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147352155	chr1:104912309-104912310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559923228	chr1:104912338-104912339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2173268	chr1:104912354-104912355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545602117	chr1:104912355-104912356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564184919	chr1:104912479-104912480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181382656	chr1:104912487-104912488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201244658	chr1:104912488-104912489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543396322	chr1:104912503-104912504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561622078	chr1:104912565-104912566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529622887	chr1:104912568-104912569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185276031	chr1:104912602-104912603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377311479	chr1:104912635-104912636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188465497	chr1:104912664-104912665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533550874	chr1:104912672-104912673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141309749	chr1:104912676-104912677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533343358	chr1:104912706-104912707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71807189	chr1:104912719-104912720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58106817	chr1:104912720-104912721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201835161	chr1:104912725-104912726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs315155	chr1:104912726-104912727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67648007	chr1:104912727-104912728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs71669425	chr1:104912728-104912729	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104911800-104913000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:104920800-104921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:104920800-104921400	Enhancers	HMEC	breast
4	chr1:104921200-104921400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:104921200-104921600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:104921200-104921600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:104921200-104921600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:104921400-104922400	Weak transcription	HMEC	breast
9	chr1:104921400-104923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:104922400-104923000	Enhancers	HMEC	breast
11	chr1:104922600-104923400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:104922800-104923200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:104923000-104923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:104929200-104931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:104930000-104931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:104930200-104933600	Enhancers	HMEC	breast
17	chr1:104930800-104931200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:104930800-104931200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:104931200-104932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:104931200-104933600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:104932600-104933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:104941000-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:104943200-104943400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:104943400-104944800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:104943800-104945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:104944400-104945200	Enhancers	Brain Germinal Matrix	brain
27	chr1:104944800-104945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:104945200-104946000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:104945400-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:104946000-104946200	Enhancers	Brain Germinal Matrix	brain
31	chr1:104948800-104949400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:104948800-104950200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:104949000-104950800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:104949200-104950400	Enhancers	Fetal Heart	heart
35	chr1:104949400-104949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:104949800-104950000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:104950000-104950400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:104950000-104950400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:104950200-104950600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:104950400-104950600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:104950400-104952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:104950400-104953200	Weak transcription	Fetal Heart	heart
43	chr1:104950600-104955000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:104953200-104953800	Enhancers	Fetal Heart	heart
45	chr1:104955000-104955200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:104957000-104957400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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