Variant report

Variant	esv2650663
Chromosome Location	chr1:180222119-180222119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180221511..180222402-chr1:180384611..180385850,8	K562	blood:
2	chr1:180198631..180200637-chr1:180221908..180224237,2	K562	blood:
3	chr1:180221695..180222356-chr1:180382040..180383006,2	MCF-7	breast:
4	chr1:180221876..180222417-chr1:180451282..180451839,4	K562	blood:
5	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
6	chr1:180220889..180223156-chr1:180225392..180228382,2	K562	blood:
7	chr1:180216843..180220408-chr1:180221567..180224092,3	K562	blood:
8	chr1:180200127..180202190-chr1:180221742..180224179,2	MCF-7	breast:
9	chr1:180221502..180222361-chr1:180447062..180448015,4	MCF-7	breast:
10	chr1:180221615..180222392-chr1:180451323..180452198,2	MCF-7	breast:
11	chr1:180221460..180222513-chr1:180446948..180447843,5	K562	blood:
12	chr1:180188180..180191115-chr1:180220130..180223049,2	K562	blood:
13	chr1:180221010..180222431-chr1:180384882..180385873,4	MCF-7	breast:
14	chr1:180197794..180200054-chr1:180220932..180222468,2	MCF-7	breast:
15	chr1:180155464..180157247-chr1:180221856..180223365,2	K562	blood:
16	chr1:180220917..180222476-chr1:180232380..180234060,2	MCF-7	breast:
17	chr1:180221964..180223660-chr1:180469973..180471619,2	MCF-7	breast:
18	chr1:180220762..180222485-chr1:180240954..180243364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 87 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5779055	chr1:180222119-180222120	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180213600-180225800	Weak transcription	Right Atrium	heart
2	chr1:180217600-180222800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180219200-180222200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:180219200-180223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:180219200-180223000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:180219200-180223200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:180219200-180224400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:180219600-180222800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:180219800-180223600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:180221200-180224200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:180221400-180222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:180221400-180222800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:180221600-180222200	Enhancers	A549	lung
14	chr1:180221600-180222600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:180221600-180222600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:180221800-180222400	Enhancers	HepG2	liver
17	chr1:180222000-180222200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:180222000-180222200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:180222000-180222400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:180222000-180223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:180222000-180223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:180222000-180224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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