Variant report

Variant	esv3429043
Chromosome Location	chr1:215303479-215306027
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	chr1:214975717..214977298-chr1:215304558..215307243,2	MCF-7	breast:
2	chr1:215302064..215304065-chr1:215309490..215312197,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541640492	chr1:215303527-215303528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150378649	chr1:215303544-215303545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187324976	chr1:215303545-215303546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551913575	chr1:215303570-215303571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61818325	chr1:215303589-215303590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536587041	chr1:215303613-215303614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4269745	chr1:215303643-215303644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548272907	chr1:215303644-215303645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569867044	chr1:215303647-215303648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568014748	chr1:215303688-215303689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111420799	chr1:215303689-215303690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143726869	chr1:215303692-215303693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72735354	chr1:215303693-215303694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570449603	chr1:215303726-215303727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190438952	chr1:215303755-215303756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556157830	chr1:215303757-215303758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576401578	chr1:215303760-215303761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183038187	chr1:215303763-215303764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147202794	chr1:215303890-215303891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572526570	chr1:215303921-215303922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77384251	chr1:215303927-215303928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541680217	chr1:215304049-215304050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74140929	chr1:215304064-215304065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377410188	chr1:215304070-215304071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187015113	chr1:215304096-215304097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191701878	chr1:215304098-215304099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544109962	chr1:215304172-215304173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574516911	chr1:215304186-215304187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370175560	chr1:215304188-215304189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563786191	chr1:215304193-215304194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151327528	chr1:215304197-215304198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182400085	chr1:215304226-215304227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150425009	chr1:215304234-215304235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149278108	chr1:215304245-215304246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527371868	chr1:215304267-215304268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547220427	chr1:215304355-215304356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371484403	chr1:215304371-215304372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144479275	chr1:215304405-215304406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531498701	chr1:215304445-215304446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76965011	chr1:215304450-215304451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371057319	chr1:215304453-215304454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187920988	chr1:215304454-215304455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569805167	chr1:215304480-215304481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112217137	chr1:215304491-215304492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193041594	chr1:215304500-215304501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555460218	chr1:215304576-215304577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12064019	chr1:215304579-215304580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10572305	chr1:215304686-215304687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535144219	chr1:215304847-215304848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11120502	chr1:215304880-215304881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Ovarian cancer	21720365	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215288800-215306600	Weak transcription	NHLF	lung
2	chr1:215301400-215303600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:215302800-215303600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:215303000-215303600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:215303000-215305000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215303000-215305200	Weak transcription	Osteobl	bone
7	chr1:215303000-215305600	Weak transcription	NHDF-Ad	bronchial
8	chr1:215303200-215305000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:215303400-215305400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:215303600-215305400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215305000-215305200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:215305000-215305800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:215305200-215306000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:215305200-215306000	Enhancers	Osteobl	bone
15	chr1:215305400-215305800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:215305400-215307400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:215305600-215307200	Enhancers	NHDF-Ad	bronchial
18	chr1:215305800-215307400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:215305800-215314600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:215306000-215307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:215306000-215313600	Weak transcription	Osteobl	bone

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