Variant report

Variant	esv3402828
Chromosome Location	chr1:63044349-63044663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559990304	chr1:63044369-63044370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188818941	chr1:63044375-63044376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181452771	chr1:63044376-63044377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572764658	chr1:63044386-63044387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368509564	chr1:63044388-63044389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs33969170	chr1:63044389-63044390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397755235	chr1:63044410-63044411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536878218	chr1:63044438-63044439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150359588	chr1:63044452-63044453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11207993	chr1:63044464-63044465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs201498311	chr1:63044527-63044528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199869677	chr1:63044565-63044566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202089460	chr1:63044593-63044594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376809784	chr1:63044608-63044609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577170841	chr1:63044644-63044645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372513256	chr1:63044645-63044646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199915737	chr1:63044646-63044647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373446960	chr1:63044663-63044664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
3	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
4	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:62958200-63061000	Weak transcription	Lung	lung
6	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:63003200-63045200	Weak transcription	Gastric	stomach
9	chr1:63005600-63050200	Weak transcription	NHLF	lung
10	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
12	chr1:63008400-63053200	Weak transcription	Osteobl	bone
13	chr1:63010800-63078400	Weak transcription	A549	lung
14	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
16	chr1:63019800-63052400	Weak transcription	HMEC	breast
17	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
19	chr1:63024400-63053200	Weak transcription	NH-A	brain
20	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
21	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
22	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
23	chr1:63027000-63051400	Weak transcription	Placenta	Placenta
24	chr1:63027200-63050400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:63028800-63052800	Weak transcription	Esophagus	oesophagus
26	chr1:63034200-63051000	Weak transcription	HepG2	liver
27	chr1:63035200-63050000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:63035200-63053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:63036600-63045200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:63036800-63045400	Weak transcription	Right Ventricle	heart
31	chr1:63036800-63058600	Weak transcription	Fetal Brain Female	brain
32	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:63037400-63045200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:63037600-63045000	Strong transcription	Fetal Intestine Large	intestine
35	chr1:63037600-63055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:63038400-63050200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:63038400-63051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:63038400-63052200	Weak transcription	GM12878-XiMat	blood
39	chr1:63038400-63054600	Weak transcription	Fetal Kidney	kidney
40	chr1:63038400-63087600	Weak transcription	NHEK	skin
41	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
42	chr1:63038600-63050200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:63038600-63050400	Weak transcription	Psoas Muscle	Psoas
44	chr1:63038600-63050800	Weak transcription	Liver	Liver
45	chr1:63038600-63051000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:63038600-63052400	Weak transcription	Dnd41	blood
47	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:63038800-63045600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:63038800-63053400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:63039000-63044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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