Variant report

Variant	esv3433375
Chromosome Location	chr1:103468664-103472062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:103469326-103469402	SH-SY5Y	brain:	n/a	chr1:103469390-103469400
2	POLR2A	chr1:103468500-103468715	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1B-5	chr1:103470000-103470037	NONHSAT004880

Variant related genes	Relation type
COL11A1	TF binding region
TMPO	miRNA target sites

Extended variants
information (count: 148 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556561063	chr1:103468700-103468701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138206817	chr1:103468706-103468707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200955390	chr1:103468735-103468736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199882324	chr1:103468737-103468738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375664445	chr1:103468760-103468761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12136577	chr1:103468767-103468768	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373366240	chr1:103468773-103468774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141812524	chr1:103468776-103468777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199875795	chr1:103468820-103468821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202080663	chr1:103468821-103468822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377035028	chr1:103468827-103468828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369850252	chr1:103468828-103468829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201424786	chr1:103468831-103468832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12075061	chr1:103468837-103468838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371648459	chr1:103468848-103468849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370445089	chr1:103468855-103468856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529640514	chr1:103468892-103468893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149522499	chr1:103468902-103468903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77603104	chr1:103468941-103468942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534154922	chr1:103469028-103469029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537268765	chr1:103469029-103469030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193005606	chr1:103469056-103469057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184510272	chr1:103469065-103469066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538497511	chr1:103469082-103469083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116296541	chr1:103469120-103469121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574932571	chr1:103469136-103469137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2622876	chr1:103469146-103469147	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528790717	chr1:103469153-103469154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140618271	chr1:103469156-103469157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2929163	chr1:103469161-103469162	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189032560	chr1:103469313-103469314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74512803	chr1:103469314-103469315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77381436	chr1:103469366-103469367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562435757	chr1:103469379-103469380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529679319	chr1:103469388-103469389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548144109	chr1:103469428-103469429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545355018	chr1:103469477-103469478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2622877	chr1:103469613-103469614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542890890	chr1:103469640-103469641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75887291	chr1:103469648-103469649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142855182	chr1:103469688-103469689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571009606	chr1:103469697-103469698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181477341	chr1:103469738-103469739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112017556	chr1:103469754-103469755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185606989	chr1:103469758-103469759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147425743	chr1:103469775-103469776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542848141	chr1:103469779-103469780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535503821	chr1:103469790-103469791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189197347	chr1:103469863-103469864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572458857	chr1:103469864-103469865	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:103423800-103476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:103425000-103478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:103446800-103497800	Weak transcription	HSMM	muscle
7	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:103450800-103470200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:103453400-103490000	Weak transcription	NH-A	brain
10	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:103466600-103471200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:103466800-103469400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:103467000-103469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:103468400-103471400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:103468400-103478600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:103469400-103469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:103469400-103471400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:103469800-103486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:103470200-103471400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:103471200-103475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:103471400-103471800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:103471400-103476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:103471400-103486600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:103471800-103474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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