Variant report

Variant	esv2762146
Chromosome Location	chr1:63047058-63049988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535488311	chr1:63047059-63047060	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558781785	chr1:63047060-63047061	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538967618	chr1:63047124-63047125	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557049656	chr1:63047191-63047192	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187738176	chr1:63047224-63047225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191365822	chr1:63047340-63047341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541058267	chr1:63047353-63047354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183714806	chr1:63047361-63047362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78883756	chr1:63047369-63047370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559530056	chr1:63047401-63047402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76260687	chr1:63047420-63047421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189253046	chr1:63047435-63047436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575432175	chr1:63047468-63047469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115925205	chr1:63047489-63047490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116225426	chr1:63047520-63047521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182003770	chr1:63047530-63047531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372042591	chr1:63047543-63047544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571123771	chr1:63047638-63047639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369425487	chr1:63047681-63047682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185262432	chr1:63047832-63047833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554275820	chr1:63047884-63047885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546773831	chr1:63047885-63047886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568241711	chr1:63047924-63047925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190009160	chr1:63047943-63047944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551016054	chr1:63047947-63047948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544423399	chr1:63047950-63047951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569167126	chr1:63047982-63047983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11207994	chr1:63047987-63047988	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs558625438	chr1:63048018-63048019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2934744	chr1:63048045-63048046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs534843163	chr1:63048046-63048047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553228254	chr1:63048047-63048048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2985453	chr1:63048053-63048054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2934743	chr1:63048063-63048064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34467415	chr1:63048075-63048076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554463824	chr1:63048078-63048079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372814860	chr1:63048084-63048085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574650818	chr1:63048088-63048089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369377457	chr1:63048145-63048146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370076386	chr1:63048153-63048154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541570942	chr1:63048159-63048160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34269222	chr1:63048167-63048168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34441729	chr1:63048181-63048182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10158068	chr1:63048199-63048200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563351508	chr1:63048200-63048201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34866886	chr1:63048218-63048219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34110232	chr1:63048249-63048250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67094944	chr1:63048250-63048251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71643638	chr1:63048255-63048256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575199528	chr1:63048270-63048271	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
2	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
3	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:62958200-63061000	Weak transcription	Lung	lung
5	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:63005600-63050200	Weak transcription	NHLF	lung
8	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
10	chr1:63008400-63053200	Weak transcription	Osteobl	bone
11	chr1:63010800-63078400	Weak transcription	A549	lung
12	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
14	chr1:63019800-63052400	Weak transcription	HMEC	breast
15	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
17	chr1:63024400-63053200	Weak transcription	NH-A	brain
18	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
19	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
21	chr1:63027000-63051400	Weak transcription	Placenta	Placenta
22	chr1:63027200-63050400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:63028800-63052800	Weak transcription	Esophagus	oesophagus
24	chr1:63034200-63051000	Weak transcription	HepG2	liver
25	chr1:63035200-63050000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:63035200-63053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:63036800-63058600	Weak transcription	Fetal Brain Female	brain
28	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:63037600-63055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:63038400-63050200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:63038400-63051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:63038400-63052200	Weak transcription	GM12878-XiMat	blood
33	chr1:63038400-63054600	Weak transcription	Fetal Kidney	kidney
34	chr1:63038400-63087600	Weak transcription	NHEK	skin
35	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
36	chr1:63038600-63050200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:63038600-63050400	Weak transcription	Psoas Muscle	Psoas
38	chr1:63038600-63050800	Weak transcription	Liver	Liver
39	chr1:63038600-63051000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:63038600-63052400	Weak transcription	Dnd41	blood
41	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:63038800-63053400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:63039000-63050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:63039000-63063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:63039200-63095200	Weak transcription	Ovary	ovary
46	chr1:63040400-63052800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:63041000-63051000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:63041000-63051000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach

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