Variant report

Variant	esv19189
Chromosome Location	chr12:30290207-30296633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191383751	chr12:30290215-30290216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112838946	chr12:30290233-30290234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148884142	chr12:30290236-30290237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12368648	chr12:30290256-30290257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371900161	chr12:30290286-30290287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542134721	chr12:30290327-30290328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552886739	chr12:30290361-30290362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183953942	chr12:30290368-30290369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11050674	chr12:30290386-30290387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531090572	chr12:30290398-30290399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116146158	chr12:30290482-30290483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8181729	chr12:30290487-30290488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564213286	chr12:30290491-30290492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554544394	chr12:30290510-30290511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528171884	chr12:30290511-30290512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11834608	chr12:30290536-30290537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566262333	chr12:30290540-30290541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10843619	chr12:30290545-30290546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548923423	chr12:30290556-30290557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8181733	chr12:30290686-30290687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188288709	chr12:30290687-30290688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114236460	chr12:30290712-30290713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181806479	chr12:30290714-30290715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10843620	chr12:30290721-30290722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534795891	chr12:30290732-30290733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143542163	chr12:30290758-30290759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186496682	chr12:30290766-30290767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189884316	chr12:30290878-30290879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199881408	chr12:30290966-30290967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575153607	chr12:30290968-30290969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75134507	chr12:30290979-30290980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182099583	chr12:30290991-30290992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372921343	chr12:30291011-30291012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186299321	chr12:30291019-30291020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143105091	chr12:30291030-30291031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147470707	chr12:30291067-30291068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549520025	chr12:30291078-30291079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548761685	chr12:30291083-30291084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563976411	chr12:30291092-30291093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531106209	chr12:30291132-30291133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552579979	chr12:30291135-30291136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138301946	chr12:30291147-30291148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141820786	chr12:30291151-30291152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546711209	chr12:30291228-30291229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568180718	chr12:30291230-30291231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529862592	chr12:30291231-30291232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548524168	chr12:30291240-30291241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535277127	chr12:30291255-30291256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191590111	chr12:30291330-30291331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55834069	chr12:30291333-30291334	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30285800-30291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:30291000-30291400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:30291000-30291600	Enhancers	Right Atrium	heart
4	chr12:30291200-30291400	Enhancers	HSMMtube	muscle
5	chr12:30291200-30292200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:30291200-30292200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:30294200-30294400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:30294400-30297800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30296400-30296600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:30296600-30297600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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