Variant report

Variant	esv3321205
Chromosome Location	chr1:221113711-221118750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs374796919	chr1:221113713-221113714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143001120	chr1:221113770-221113771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374047659	chr1:221113785-221113786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112870563	chr1:221113819-221113820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183217946	chr1:221113822-221113823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188054598	chr1:221113865-221113866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564739585	chr1:221113876-221113877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571558391	chr1:221113889-221113890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150686601	chr1:221113927-221113928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557339029	chr1:221113971-221113972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139056813	chr1:221113972-221113973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369093120	chr1:221113995-221113996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79240172	chr1:221114028-221114029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2807874	chr1:221114051-221114052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2784282	chr1:221114052-221114053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11118627	chr1:221114059-221114060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs57483889	chr1:221114060-221114061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543803854	chr1:221114101-221114102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183897084	chr1:221114106-221114107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529530643	chr1:221114122-221114123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144957604	chr1:221114162-221114163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559711325	chr1:221114176-221114177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528643527	chr1:221114202-221114203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551583815	chr1:221114215-221114216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375219085	chr1:221114235-221114236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368392586	chr1:221114354-221114355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571711708	chr1:221114413-221114414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574842193	chr1:221114438-221114439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530967801	chr1:221114503-221114504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539937194	chr1:221114515-221114516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550978369	chr1:221114522-221114523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188206159	chr1:221114538-221114539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58419507	chr1:221114540-221114541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553198510	chr1:221114544-221114545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566558028	chr1:221114552-221114553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538779457	chr1:221114708-221114709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192589397	chr1:221114740-221114741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574987879	chr1:221114746-221114747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184980158	chr1:221114764-221114765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189814685	chr1:221114773-221114774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574059241	chr1:221114776-221114777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542921536	chr1:221114859-221114860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559947089	chr1:221114863-221114864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75138605	chr1:221114904-221114905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545575014	chr1:221114917-221114918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2784281	chr1:221114929-221114930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139840671	chr1:221114941-221114942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114499653	chr1:221114956-221114957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74141257	chr1:221114957-221114958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115408630	chr1:221114989-221114990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221103200-221116800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:221116800-221117200	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr1:221116800-221117400	Enhancers	Fetal Stomach	stomach
4	chr1:221116800-221117600	Enhancers	Fetal Lung	lung
5	chr1:221116800-221117600	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:221116800-221117800	Enhancers	Colon Smooth Muscle	Colon
7	chr1:221117800-221122200	Weak transcription	Colon Smooth Muscle	Colon

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