Variant report

Variant	esv3430238
Chromosome Location	chr1:67171264-67173162
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	chr1:67172247..67174334-chr1:67176397..67179152,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3738167	chr1:67171266-67171267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374591737	chr1:67171338-67171339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550548198	chr1:67171347-67171348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570395002	chr1:67171404-67171405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9633417	chr1:67171412-67171413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs114043082	chr1:67171417-67171418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75318620	chr1:67171423-67171424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535613014	chr1:67171429-67171430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72920342	chr1:67171433-67171434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569127591	chr1:67171435-67171436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537789650	chr1:67171492-67171493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113918586	chr1:67171495-67171496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12128148	chr1:67171512-67171513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6668681	chr1:67171527-67171528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35164038	chr1:67171528-67171529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573830387	chr1:67171568-67171569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6668603	chr1:67171634-67171635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562790232	chr1:67171645-67171646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532024345	chr1:67171646-67171647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545338082	chr1:67171686-67171687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191996596	chr1:67171688-67171689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199520200	chr1:67171777-67171778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200989100	chr1:67171791-67171792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532765540	chr1:67171792-67171793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6669023	chr1:67171868-67171869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185013348	chr1:67171926-67171927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529043195	chr1:67171935-67171936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113705131	chr1:67171978-67171979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34868698	chr1:67171980-67171981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35930397	chr1:67172002-67172003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113143887	chr1:67172026-67172027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369395582	chr1:67172027-67172028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4067496	chr1:67172029-67172030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5774835	chr1:67172138-67172139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2312573	chr1:67172148-67172149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557738192	chr1:67172153-67172154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571533316	chr1:67172155-67172156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74929597	chr1:67172325-67172326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553777766	chr1:67172348-67172349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573793605	chr1:67172380-67172381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145332944	chr1:67172390-67172391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536388608	chr1:67172409-67172410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189526829	chr1:67172420-67172421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181065787	chr1:67172472-67172473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545606152	chr1:67172480-67172481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149195442	chr1:67172520-67172521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572735394	chr1:67172522-67172523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540214063	chr1:67172561-67172562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373442349	chr1:67172641-67172642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549050254	chr1:67172643-67172644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67155800-67177200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:67156000-67177200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:67156800-67191400	Weak transcription	Fetal Brain Female	brain
4	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:67157200-67189600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:67157400-67191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:67158200-67189400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:67158400-67191400	Weak transcription	Left Ventricle	heart
9	chr1:67158600-67189400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:67160400-67189400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:67165200-67191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:67165400-67187600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:67165400-67191600	Weak transcription	Aorta	Aorta
14	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
15	chr1:67168000-67185000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67169600-67171400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:67169600-67171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:67169600-67171600	Enhancers	NHDF-Ad	bronchial
19	chr1:67169800-67171400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:67169800-67171600	Enhancers	HepG2	liver
21	chr1:67169800-67171800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:67170000-67171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:67170200-67171600	Enhancers	Fetal Intestine Large	intestine
24	chr1:67170200-67171600	Enhancers	Osteobl	bone
25	chr1:67170200-67186800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:67170600-67171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:67170800-67171400	Enhancers	NHLF	lung
28	chr1:67171000-67171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:67171000-67171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:67171200-67171400	Enhancers	Fetal Intestine Small	intestine
31	chr1:67171400-67171600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:67171400-67189400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:67171400-67198000	Weak transcription	NHLF	lung

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