Variant report

Variant	esv3365181
Chromosome Location	chr1:197422079-197424127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533423131	chr1:197422101-197422102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556424984	chr1:197422124-197422125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188857947	chr1:197422204-197422205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560283347	chr1:197422241-197422242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527855873	chr1:197422270-197422271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549197540	chr1:197422287-197422288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113129299	chr1:197422311-197422312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6678776	chr1:197422316-197422317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6689739	chr1:197422333-197422334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571172809	chr1:197422340-197422341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569295852	chr1:197422365-197422366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71631899	chr1:197422398-197422399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149952987	chr1:197422401-197422402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28849479	chr1:197422442-197422443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28887491	chr1:197422443-197422444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139259284	chr1:197422449-197422450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61517044	chr1:197422450-197422451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398103555	chr1:197422451-197422452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398053683	chr1:197422455-197422456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192579355	chr1:197422507-197422508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572206343	chr1:197422525-197422526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374802992	chr1:197422541-197422542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536441656	chr1:197422547-197422548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201599640	chr1:197422642-197422643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147699252	chr1:197422643-197422644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71631900	chr1:197422656-197422657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576357073	chr1:197422667-197422668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543360121	chr1:197422669-197422670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56403659	chr1:197422671-197422672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71569509	chr1:197422672-197422673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55633080	chr1:197422673-197422674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150881761	chr1:197422674-197422675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376535788	chr1:197422675-197422676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140893863	chr1:197422676-197422677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370273955	chr1:197422677-197422678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200124039	chr1:197422678-197422679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67223878	chr1:197422680-197422681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59868856	chr1:197422681-197422682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78412476	chr1:197422685-197422686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71131759	chr1:197422692-197422693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78970982	chr1:197422698-197422699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80131599	chr1:197422702-197422703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143968649	chr1:197422706-197422707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36099235	chr1:197422707-197422708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140883799	chr1:197422718-197422719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71131760	chr1:197422726-197422727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145132765	chr1:197422899-197422900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28802643	chr1:197422902-197422903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71631901	chr1:197422905-197422906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549121997	chr1:197422908-197422909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197411800-197432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197412000-197433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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