Variant report

Variant	esv3321200
Chromosome Location	chr1:220502865-220503658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220503462..220505914-chr1:220509183..220511550,3	MCF-7	breast:
2	chr1:220501802..220503799-chr1:220507368..220509036,2	MCF-7	breast:
3	chr1:220503407..220505122-chr1:220514506..220516163,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373656239	chr1:220502926-220502927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368109198	chr1:220502945-220502946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192274537	chr1:220502947-220502948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184854405	chr1:220503075-220503076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189623354	chr1:220503102-220503103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536638677	chr1:220503126-220503127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564740321	chr1:220503147-220503148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192306877	chr1:220503155-220503156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541772107	chr1:220503173-220503174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377143930	chr1:220503208-220503209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555950903	chr1:220503216-220503217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116152340	chr1:220503232-220503233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541654157	chr1:220503262-220503263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564423038	chr1:220503291-220503292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546066660	chr1:220503296-220503297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184510360	chr1:220503327-220503328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77856389	chr1:220503333-220503334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572847996	chr1:220503341-220503342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138947113	chr1:220503347-220503348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529122113	chr1:220503398-220503399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17641428	chr1:220503401-220503402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74939743	chr1:220503431-220503432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58108315	chr1:220503452-220503453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139925506	chr1:220503517-220503518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61652479	chr1:220503521-220503522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368141667	chr1:220503572-220503573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562912572	chr1:220503605-220503606	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142971384	chr1:220503617-220503618	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220498800-220503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:220500800-220509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:220501400-220508800	Weak transcription	Esophagus	oesophagus
6	chr1:220502600-220503000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:220502600-220503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220502600-220504200	Enhancers	Brain Germinal Matrix	brain
9	chr1:220502800-220503000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:220502800-220503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:220502800-220503600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:220502800-220504200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:220502800-220505000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:220503000-220505000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:220503200-220503400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:220503200-220510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:220503400-220503800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:220503400-220509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:220503600-220504000	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:220503600-220504200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:220503600-220504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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