Variant report

Variant	esv3431762
Chromosome Location	chr1:196329481-196329949
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	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:
2	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190621467	chr1:196329493-196329494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184056948	chr1:196329494-196329495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79688141	chr1:196329549-196329550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530554898	chr1:196329675-196329676	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551881034	chr1:196329746-196329747	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148561043	chr1:196329756-196329757	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528178218	chr1:196329762-196329763	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200999219	chr1:196329780-196329781	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559416998	chr1:196329781-196329782	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs58438267	chr1:196329786-196329787	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111591957	chr1:196329809-196329810	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144452592	chr1:196329813-196329814	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568332474	chr1:196329823-196329824	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73067617	chr1:196329841-196329842	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187878857	chr1:196329866-196329867	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190775042	chr1:196329902-196329903	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146632830	chr1:196329920-196329921	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196303200-196332600	Weak transcription	Ovary	ovary
2	chr1:196326800-196330600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:196326800-196331200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196327200-196333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:196327200-196342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:196327400-196329600	Weak transcription	Liver	Liver
7	chr1:196329000-196330800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:196329400-196330600	Enhancers	NHEK	skin
9	chr1:196329400-196330800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:196329400-196330800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:196329600-196330200	Active TSS	Liver	Liver
12	chr1:196329600-196330800	Enhancers	K562	blood
13	chr1:196329800-196330600	Enhancers	HMEC	breast
14	chr1:196329800-196330800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:196329800-196331600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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