Variant report

Variant	esv3399179
Chromosome Location	chr1:95510614-95512612
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	chr1:95507332..95508861-chr1:95511059..95512628,2	K562	blood:
2	chr1:95318706..95321767-chr1:95507313..95510717,3	K562	blood:

Variant related genes	Relation type
ENSG00000237416	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577919697	chr1:95510623-95510624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540627822	chr1:95510650-95510651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569806411	chr1:95510651-95510652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560388199	chr1:95510674-95510675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529559033	chr1:95510683-95510684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549301740	chr1:95510686-95510687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147011238	chr1:95510706-95510707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144999673	chr1:95510717-95510718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199612550	chr1:95510721-95510722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181766203	chr1:95510737-95510738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149096451	chr1:95510753-95510754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539016645	chr1:95510771-95510772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74103604	chr1:95510836-95510837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369332314	chr1:95510837-95510838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552482056	chr1:95510859-95510860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566106723	chr1:95510888-95510889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566006581	chr1:95510921-95510922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566736093	chr1:95510962-95510963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532305596	chr1:95510976-95510977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535729350	chr1:95511019-95511020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555724458	chr1:95511043-95511044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143701485	chr1:95511072-95511073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186396623	chr1:95511090-95511091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148120965	chr1:95511152-95511153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372841599	chr1:95511164-95511165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74403078	chr1:95511199-95511200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540231004	chr1:95511206-95511207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188841373	chr1:95511207-95511208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34948073	chr1:95511221-95511222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370683876	chr1:95511244-95511245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113447631	chr1:95511291-95511292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61774261	chr1:95511333-95511334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs61774262	chr1:95511347-95511348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531769699	chr1:95511366-95511367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574357552	chr1:95511370-95511371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34374927	chr1:95511376-95511377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61774263	chr1:95511399-95511400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563997273	chr1:95511414-95511415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557962485	chr1:95511441-95511442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367897600	chr1:95511448-95511449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200830291	chr1:95511463-95511464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200887328	chr1:95511479-95511480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35446212	chr1:95511494-95511495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533060022	chr1:95511500-95511501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546409631	chr1:95511501-95511502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532284841	chr1:95511504-95511505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566452480	chr1:95511513-95511514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113464793	chr1:95511525-95511526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71097231	chr1:95511536-95511537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528941202	chr1:95511706-95511707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
3	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:95502000-95512200	Weak transcription	GM12878-XiMat	blood
5	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
6	chr1:95506000-95517000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
8	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95508000-95513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:95509000-95510800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:95509000-95514000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:95509000-95528000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:95509200-95525600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:95509400-95515800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:95509400-95527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:95509400-95532800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:95509400-95534200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:95509600-95513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:95509600-95513600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:95509600-95513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:95509600-95513800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:95509600-95526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:95510000-95513800	Weak transcription	Liver	Liver
24	chr1:95510800-95511200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:95511200-95514000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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