Variant report

Variant	esv1837139
Chromosome Location	chr1:84649799-84670584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84662036..84663948-chr1:84669561..84672181,4	K562	blood:
2	chr1:84662036..84663948-chr1:84669561..84672181,4	K562	blood:

Extended variants
information (count: 721 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36117118	chr1:84649799-84649800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200046142	chr1:84649826-84649827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373700735	chr1:84649854-84649855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367557227	chr1:84649855-84649856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546959245	chr1:84649871-84649872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566650245	chr1:84649922-84649923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192590135	chr1:84649932-84649933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574771521	chr1:84649933-84649934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371255744	chr1:84649943-84649944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528918948	chr1:84649985-84649986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575440969	chr1:84649987-84649988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113153279	chr1:84649988-84649989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41301144	chr1:84650002-84650003	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576135753	chr1:84650049-84650050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184395494	chr1:84650068-84650069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560091643	chr1:84650111-84650112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368800618	chr1:84650120-84650121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577053025	chr1:84650125-84650126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188509884	chr1:84650144-84650145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148774187	chr1:84650170-84650171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531560614	chr1:84650239-84650240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541976153	chr1:84650290-84650291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192868180	chr1:84650308-84650309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543490528	chr1:84650316-84650317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527558053	chr1:84650419-84650420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546720638	chr1:84650497-84650498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112642929	chr1:84650519-84650520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541486088	chr1:84650561-84650562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566517435	chr1:84650563-84650564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs41301146	chr1:84650596-84650597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs41301148	chr1:84650602-84650603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562759038	chr1:84650617-84650618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs41301150	chr1:84650619-84650620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538070777	chr1:84650703-84650704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555128041	chr1:84650710-84650711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202074475	chr1:84650749-84650750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373402580	chr1:84650806-84650807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201203672	chr1:84650881-84650882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139512414	chr1:84650898-84650899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376764207	chr1:84651002-84651003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184960244	chr1:84651012-84651013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556310546	chr1:84651021-84651022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576074478	chr1:84651024-84651025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541689180	chr1:84651034-84651035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189406937	chr1:84651035-84651036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527627324	chr1:84651051-84651052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545195861	chr1:84651107-84651108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41301152	chr1:84651112-84651113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563990350	chr1:84651117-84651118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11163913	chr1:84651183-84651184	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
2	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
3	chr1:84634800-84651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
6	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
7	chr1:84640000-84651600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:84640000-84651800	Weak transcription	Pancreas	Pancrea
9	chr1:84640000-84656600	Weak transcription	Left Ventricle	heart
10	chr1:84640000-84658800	Weak transcription	Fetal Brain Male	brain
11	chr1:84640200-84651600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:84640200-84654800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:84640200-84655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:84640200-84656400	Weak transcription	HSMMtube	muscle
15	chr1:84640200-84658600	Weak transcription	Osteobl	bone
16	chr1:84640400-84651400	Weak transcription	HSMM	muscle
17	chr1:84640400-84651600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:84640400-84651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84640400-84651800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:84640400-84653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:84640400-84654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:84640400-84655800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:84640400-84656600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:84640400-84658200	Weak transcription	NHDF-Ad	bronchial
25	chr1:84640400-84658400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:84640400-84665000	Weak transcription	NH-A	brain
27	chr1:84640600-84651600	Weak transcription	Fetal Stomach	stomach
28	chr1:84640600-84654600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:84641200-84656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:84641200-84658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:84642000-84651400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:84642000-84652000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:84642800-84651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:84642800-84651800	Weak transcription	Aorta	Aorta
35	chr1:84643000-84654400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:84643200-84656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:84643400-84656600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:84643400-84656600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:84643600-84651600	Weak transcription	Primary T cells from cord blood	blood
40	chr1:84644000-84656400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:84644400-84658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:84646400-84662600	Weak transcription	Colonic Mucosa	Colon
43	chr1:84646600-84651800	Weak transcription	Adipose Nuclei	Adipose
44	chr1:84646600-84651800	Weak transcription	Liver	Liver
45	chr1:84646800-84653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:84646800-84654800	Weak transcription	Fetal Lung	lung
47	chr1:84647000-84651600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:84647000-84652000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:84647000-84652400	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:84647000-84654800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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