Variant report

Variant	esv3392964
Chromosome Location	chr1:215179629-215181627
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	chr1:215181522..215183505-chr1:215186881..215189562,2	K562	blood:
2	chr1:215181552..215183505-chr1:215187538..215189562,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143201377	chr1:215179639-215179640	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536553340	chr1:215179694-215179695	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553271284	chr1:215179724-215179725	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190207261	chr1:215179798-215179799	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563359475	chr1:215179832-215179833	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565133104	chr1:215179895-215179896	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182709574	chr1:215179932-215179933	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61819978	chr1:215179951-215179952	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561151497	chr1:215179987-215179988	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563915925	chr1:215180053-215180054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530206751	chr1:215180104-215180105	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185900043	chr1:215180131-215180132	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373549739	chr1:215180134-215180135	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148809772	chr1:215180192-215180193	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532670755	chr1:215180304-215180305	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199497700	chr1:215180341-215180342	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112485964	chr1:215180359-215180360	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377725228	chr1:215180364-215180365	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371051391	chr1:215180366-215180367	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374237437	chr1:215180368-215180369	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368061475	chr1:215180370-215180371	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371617263	chr1:215180372-215180373	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76811932	chr1:215180380-215180381	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374347477	chr1:215180382-215180383	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71515200	chr1:215180389-215180390	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190866885	chr1:215180392-215180393	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs71816711	chr1:215180403-215180404	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs3001444	chr1:215180404-215180405	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573064495	chr1:215180413-215180414	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs367573538	chr1:215180414-215180415	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373862884	chr1:215180431-215180432	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565466819	chr1:215180433-215180434	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571146595	chr1:215180440-215180441	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs6689150	chr1:215180442-215180443	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537158756	chr1:215180459-215180460	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183924468	chr1:215180462-215180463	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6689156	chr1:215180464-215180465	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188722061	chr1:215180472-215180473	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558312727	chr1:215180484-215180485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377497738	chr1:215180485-215180486	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192624815	chr1:215180486-215180487	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10637132	chr1:215180488-215180489	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550648199	chr1:215180506-215180507	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11120460	chr1:215180516-215180517	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2924249	chr1:215180520-215180521	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373599993	chr1:215180527-215180528	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7544696	chr1:215180528-215180529	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12564532	chr1:215180536-215180537	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567490311	chr1:215180544-215180545	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200871376	chr1:215180546-215180547	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215177200-215211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:215178600-215179800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:215178600-215180000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:215178600-215180000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr1:215178600-215181000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215178800-215180600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:215178800-215180800	Active TSS	NHDF-Ad	bronchial
8	chr1:215179000-215179800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:215179200-215180800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:215179200-215182600	Active TSS	Osteobl	bone
11	chr1:215179200-215183800	Weak transcription	NHLF	lung
12	chr1:215179400-215180800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:215179600-215179800	Enhancers	NHEK	skin
14	chr1:215179600-215184000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:215179800-215180000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:215180000-215180200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:215180000-215180200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:215180000-215182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:215180200-215181000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:215180600-215182400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:215180800-215181000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:215180800-215181200	Flanking Active TSS	NHDF-Ad	bronchial
23	chr1:215180800-215182000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:215181000-215181400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:215181000-215181600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:215181000-215182600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:215181200-215181600	Active TSS	NHDF-Ad	bronchial
28	chr1:215181400-215181800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:215181600-215182600	Flanking Active TSS	NHDF-Ad	bronchial
30	chr1:215181600-215183600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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