Variant report

Variant	nsv933785
Chromosome Location	chr1:103399944-103400955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2248827	chr1:103399982-103399983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188045535	chr1:103399997-103399998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138507620	chr1:103400010-103400011	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370534700	chr1:103400063-103400064	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369906442	chr1:103400160-103400161	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556203437	chr1:103400172-103400173	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12088268	chr1:103400173-103400174	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536035678	chr1:103400210-103400211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561641019	chr1:103400235-103400236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554780112	chr1:103400236-103400237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528950803	chr1:103400266-103400267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2045819	chr1:103400314-103400315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534049488	chr1:103400329-103400330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75382656	chr1:103400333-103400334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191017122	chr1:103400341-103400342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535236838	chr1:103400379-103400380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2045818	chr1:103400399-103400400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138714814	chr1:103400411-103400412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183864027	chr1:103400454-103400455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574619954	chr1:103400488-103400489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201249795	chr1:103400491-103400492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202071775	chr1:103400492-103400493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35488040	chr1:103400495-103400496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552794340	chr1:103400501-103400502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564454155	chr1:103400509-103400510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531568313	chr1:103400542-103400543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538161574	chr1:103400551-103400552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370433836	chr1:103400552-103400553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554516345	chr1:103400560-103400561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373543261	chr1:103400567-103400568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375609341	chr1:103400588-103400589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369391674	chr1:103400589-103400590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372941709	chr1:103400613-103400614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145253279	chr1:103400630-103400631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375675171	chr1:103400635-103400636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141432979	chr1:103400661-103400662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370294344	chr1:103400673-103400674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372389950	chr1:103400691-103400692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567668867	chr1:103400780-103400781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137870422	chr1:103400790-103400791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192585837	chr1:103400792-103400793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184863668	chr1:103400815-103400816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533765039	chr1:103400842-103400843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558865240	chr1:103400899-103400900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558129194	chr1:103400911-103400912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375001998	chr1:103400914-103400915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577238992	chr1:103400932-103400933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375031057	chr1:103400952-103400953	Weak transcription Strong transcription	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
Ewing''s sarcoma	17952124	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
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103352600-103403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:103378800-103400000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103385800-103401000	Weak transcription	HSMM	muscle
5	chr1:103386000-103407000	Weak transcription	NH-A	brain
6	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:103397800-103414200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:103398600-103407200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:103399000-103400200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:103399000-103400400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:103399000-103401400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103399000-103404000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:103399200-103400000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:103399200-103400800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:103399400-103400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:103399400-103400800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:103399400-103406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:103399600-103400200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:103399600-103400200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:103399600-103406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:103400000-103400200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:103400000-103400200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:103400000-103400200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr1:103400000-103402800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:103400200-103402800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:103400200-103403000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:103400200-103403000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:103400200-103424400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:103400200-103444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:103400200-103462000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:103400400-103402400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:103400800-103405000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:103400800-103444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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