Variant report

Variant	esv3345903
Chromosome Location	chr1:77832439-77834787
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	CTCF	chr1:77832506-77832525	GM13976	blood:	n/a	n/a
2	GATA3	chr1:77834280-77834443	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
AK5	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550127457	chr1:77832494-77832495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568634585	chr1:77832504-77832505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372697043	chr1:77832509-77832510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532104877	chr1:77832543-77832544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376260558	chr1:77832562-77832563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148539183	chr1:77832607-77832608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113592855	chr1:77832609-77832610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112315106	chr1:77832610-77832611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112138972	chr1:77832611-77832612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67979583	chr1:77832612-77832613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548252767	chr1:77832666-77832667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190988776	chr1:77832757-77832758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183259449	chr1:77832805-77832806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559010558	chr1:77832814-77832815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558900024	chr1:77832825-77832826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577174881	chr1:77832857-77832858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141703248	chr1:77832904-77832905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557417950	chr1:77832914-77832915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188140581	chr1:77832921-77832922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34623145	chr1:77832932-77832933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190434647	chr1:77832940-77832941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542791904	chr1:77832947-77832948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561434454	chr1:77832990-77832991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571345216	chr1:77833022-77833023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150535269	chr1:77833065-77833066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540782277	chr1:77833079-77833080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565255660	chr1:77833082-77833083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532639919	chr1:77833139-77833140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139757420	chr1:77833142-77833143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72470496	chr1:77833143-77833144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373309005	chr1:77833144-77833145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528301831	chr1:77833152-77833153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202021729	chr1:77833169-77833170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56099019	chr1:77833170-77833171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529683939	chr1:77833174-77833175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367695048	chr1:77833192-77833193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547982299	chr1:77833198-77833199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112433218	chr1:77833215-77833216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369550671	chr1:77833237-77833238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59508312	chr1:77833239-77833240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61515572	chr1:77833240-77833241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111811387	chr1:77833241-77833242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6660313	chr1:77833242-77833243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58324737	chr1:77833256-77833257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58146762	chr1:77833257-77833258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71075732	chr1:77833264-77833265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374382779	chr1:77833274-77833275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371190192	chr1:77833275-77833276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58835367	chr1:77833281-77833282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530722808	chr1:77833282-77833283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77795000-77836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:77813800-77834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77814400-77835600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:77817400-77834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:77819800-77835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77820400-77836400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:77821000-77835600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:77824400-77836400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:77826200-77834200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77826200-77836400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:77826400-77834200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:77826800-77834200	Weak transcription	HSMM	muscle
14	chr1:77829200-77834000	Weak transcription	NHDF-Ad	bronchial
15	chr1:77830200-77835200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:77831600-77835600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:77831600-77835800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:77833200-77835800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:77834000-77839800	Enhancers	NHDF-Ad	bronchial
20	chr1:77834200-77834400	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:77834200-77834600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:77834200-77834600	Enhancers	Brain Substantia Nigra	brain
23	chr1:77834200-77835600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:77834200-77835600	Enhancers	HSMM	muscle
25	chr1:77834200-77836400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:77834200-77836600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:77834200-77839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:77834400-77835200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:77834600-77835600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:77834600-77835800	Weak transcription	Brain Inferior Temporal Lobe	brain

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