Variant report

Variant	esv3415830
Chromosome Location	chr1:196226529-196233227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
2	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
3	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
4	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:

Extended variants
information (count: 239 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532942774	chr1:196226548-196226549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201167143	chr1:196226553-196226554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183895331	chr1:196226565-196226566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552642611	chr1:196226593-196226594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548237233	chr1:196226605-196226606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570902725	chr1:196226631-196226632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374582030	chr1:196226634-196226635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58214581	chr1:196226678-196226679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186769828	chr1:196226706-196226707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576585188	chr1:196226715-196226716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543655256	chr1:196226832-196226833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565610295	chr1:196226853-196226854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs588211	chr1:196226889-196226890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76937152	chr1:196226893-196226894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191239081	chr1:196226903-196226904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530001866	chr1:196226918-196226919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546625196	chr1:196226931-196226932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140809331	chr1:196226949-196226950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74133642	chr1:196226977-196226978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184865936	chr1:196227018-196227019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145892096	chr1:196227020-196227021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571547593	chr1:196227092-196227093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538957766	chr1:196227093-196227094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554076540	chr1:196227111-196227112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547737954	chr1:196227116-196227117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138708740	chr1:196227134-196227135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78638430	chr1:196227192-196227193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114501383	chr1:196227202-196227203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371764332	chr1:196227288-196227289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74133643	chr1:196227299-196227300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201314964	chr1:196227307-196227308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558860530	chr1:196227313-196227314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148932019	chr1:196227323-196227324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147105611	chr1:196227336-196227337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142715870	chr1:196227343-196227344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201142057	chr1:196227385-196227386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs267598260	chr1:196227438-196227439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541339628	chr1:196227457-196227458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147308415	chr1:196227476-196227477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141657824	chr1:196227483-196227484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559576310	chr1:196227520-196227521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190445712	chr1:196227521-196227522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs977157	chr1:196227526-196227527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143187108	chr1:196227547-196227548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140745488	chr1:196227551-196227552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371836559	chr1:196227562-196227563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200527707	chr1:196227574-196227575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375768600	chr1:196227616-196227617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74133644	chr1:196227637-196227638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201981515	chr1:196227651-196227652	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196214000-196241400	Weak transcription	Liver	Liver
2	chr1:196214600-196247800	Weak transcription	Ovary	ovary
3	chr1:196227400-196227600	Enhancers	Left Ventricle	heart
4	chr1:196228200-196228600	Enhancers	Fetal Lung	lung
5	chr1:196228400-196228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196228400-196229200	Bivalent Enhancer	Primary B cells from cord blood	blood

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