Variant report

Variant	esv3408269
Chromosome Location	chr5:166776799-166779347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149339446	chr5:166776815-166776816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540557714	chr5:166776877-166776878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562350434	chr5:166776880-166776881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190514455	chr5:166776881-166776882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139573558	chr5:166776896-166776897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544772322	chr5:166776901-166776902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562981749	chr5:166776925-166776926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7720122	chr5:166776937-166776938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551774746	chr5:166776938-166776939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566732451	chr5:166776979-166776980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527617510	chr5:166777069-166777070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181136223	chr5:166777083-166777084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567499195	chr5:166777124-166777125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537652222	chr5:166777189-166777190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550722755	chr5:166777208-166777209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571023169	chr5:166777209-166777210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575535450	chr5:166777212-166777213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375311625	chr5:166777251-166777252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115591277	chr5:166777385-166777386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201320055	chr5:166777417-166777418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372304621	chr5:166777418-166777419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67154307	chr5:166777419-166777420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199835171	chr5:166777420-166777421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34238863	chr5:166777448-166777449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35747170	chr5:166777450-166777451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77222705	chr5:166777459-166777460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571940161	chr5:166777463-166777464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368180591	chr5:166777516-166777517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555790615	chr5:166777527-166777528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574346018	chr5:166777549-166777550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544836150	chr5:166777600-166777601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372606383	chr5:166777605-166777606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199720296	chr5:166777619-166777620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201021580	chr5:166777632-166777633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563044114	chr5:166777636-166777637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111208024	chr5:166777651-166777652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545155729	chr5:166777676-166777677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368336473	chr5:166777684-166777685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72398072	chr5:166777711-166777712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182974595	chr5:166777737-166777738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373896453	chr5:166777740-166777741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111217606	chr5:166777742-166777743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201994929	chr5:166777766-166777767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560937357	chr5:166777786-166777787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111217408	chr5:166777795-166777796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368495347	chr5:166777798-166777799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186628195	chr5:166777802-166777803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527681789	chr5:166777824-166777825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540304435	chr5:166777840-166777841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372945513	chr5:166777851-166777852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166768200-166784600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:166772200-166778400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:166778400-166778600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:166778400-166779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:166778400-166780600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:166778600-166780200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:166778600-166781200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:166779000-166779400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:166779200-166780600	Enhancers	HUES64 Cell Line	embryonic stem cell

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