Variant report

Variant	esv3341925
Chromosome Location	chr1:228210928-228211151
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	chr1:228201206..228204179-chr1:228209528..228212041,2	MCF-7	breast:
2	chr1:228211113..228213540-chr1:228236098..228237900,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142995124	chr1:228210992-228210993	Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376569853	chr1:228210995-228210996	Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574710077	chr1:228210999-228211000	Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377500966	chr1:228211006-228211007	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183645961	chr1:228211031-228211032	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188312295	chr1:228211037-228211038	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530765349	chr1:228211039-228211040	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552407476	chr1:228211043-228211044	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564078987	chr1:228211085-228211086	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1774757	chr1:228211135-228211136	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs546344255	chr1:228211137-228211138	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228195200-228213200	Weak transcription	Right Atrium	heart
2	chr1:228209400-228211000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:228210800-228211000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:228210800-228211400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr1:228211000-228211400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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