Variant report

Variant	esv3368819
Chromosome Location	chr1:213774179-213776202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556070707	chr1:213774192-213774193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183636884	chr1:213774217-213774218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573114779	chr1:213774338-213774339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535478291	chr1:213774346-213774347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142850431	chr1:213774351-213774352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376160599	chr1:213774371-213774372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571970294	chr1:213774401-213774402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545598166	chr1:213774414-213774415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557808931	chr1:213774431-213774432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577542823	chr1:213774466-213774467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544806060	chr1:213774484-213774485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61281127	chr1:213774511-213774512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371037582	chr1:213774605-213774606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369907685	chr1:213774623-213774624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143292862	chr1:213774658-213774659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542467890	chr1:213774699-213774700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374598547	chr1:213774714-213774715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188051128	chr1:213774743-213774744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148289125	chr1:213774816-213774817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141421672	chr1:213774867-213774868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570594629	chr1:213774905-213774906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531440625	chr1:213774910-213774911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181257391	chr1:213774922-213774923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567865828	chr1:213774944-213774945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535396745	chr1:213774980-213774981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183942616	chr1:213775064-213775065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116645502	chr1:213775262-213775263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373169076	chr1:213775270-213775271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200462183	chr1:213775301-213775302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539400198	chr1:213775303-213775304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201483685	chr1:213775313-213775314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201723180	chr1:213775321-213775322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200091501	chr1:213775322-213775323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374077314	chr1:213775323-213775324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200078045	chr1:213775333-213775334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568335199	chr1:213775340-213775341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535154468	chr1:213775363-213775364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199980700	chr1:213775373-213775374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372135778	chr1:213775381-213775382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201125674	chr1:213775401-213775402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201360049	chr1:213775403-213775404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377717649	chr1:213775440-213775441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56410338	chr1:213775453-213775454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368946392	chr1:213775462-213775463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531085228	chr1:213775465-213775466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373125931	chr1:213775482-213775483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563287003	chr1:213775561-213775562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67490848	chr1:213775583-213775584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538487344	chr1:213775598-213775599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190349205	chr1:213775632-213775633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	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
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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213769000-213775800	Weak transcription	HepG2	liver
2	chr1:213775800-213777000	Enhancers	HepG2	liver
3	chr1:213776000-213776600	Enhancers	Fetal Intestine Large	intestine

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