Variant report

Variant	esv2112127
Chromosome Location	chr1:246972706-246973151
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	chr1:246966820..246969788-chr1:246972705..246974206,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571645238	chr1:246972723-246972724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537082954	chr1:246972735-246972736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116626568	chr1:246972753-246972754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35913465	chr1:246972810-246972811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536553131	chr1:246972818-246972819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557847205	chr1:246972824-246972825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375539232	chr1:246972887-246972888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61852558	chr1:246972915-246972916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs61852559	chr1:246972925-246972926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4971274	chr1:246972927-246972928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192287087	chr1:246972932-246972933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573868936	chr1:246972938-246972939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575163165	chr1:246972943-246972944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543916629	chr1:246972944-246972945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371490417	chr1:246972946-246972947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560940784	chr1:246972950-246972951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11581030	chr1:246972951-246972952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367689845	chr1:246972974-246972975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529518164	chr1:246972982-246972983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549664527	chr1:246972984-246972985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559958716	chr1:246972991-246972992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144466382	chr1:246973009-246973010	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551888614	chr1:246973010-246973011	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184663091	chr1:246973026-246973027	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537451383	chr1:246973028-246973029	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11584835	chr1:246973094-246973095	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs567661085	chr1:246973132-246973133	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536125000	chr1:246973140-246973141	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148389867	chr1:246973145-246973146	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246964400-246973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:246971600-246975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:246972600-246972800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246973000-246973200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:246973000-246973200	Enhancers	Left Ventricle	heart
6	chr1:246973000-246973800	Enhancers	Fetal Muscle Leg	muscle

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