Variant report

Variant	esv3430188
Chromosome Location	chr12:75968735-75970633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3847671	chr12:75968794-75968795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74465491	chr12:75968805-75968806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3847672	chr12:75968815-75968816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs186570472	chr12:75968866-75968867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566292579	chr12:75968874-75968875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3847673	chr12:75968877-75968878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs190432947	chr12:75968899-75968900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568873031	chr12:75968931-75968932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73378332	chr12:75969026-75969027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554677093	chr12:75969080-75969081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182647800	chr12:75969148-75969149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186924010	chr12:75969149-75969150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1679385	chr12:75969183-75969184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577512050	chr12:75969197-75969198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80174318	chr12:75969205-75969206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563024524	chr12:75969226-75969227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143186176	chr12:75969277-75969278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541883125	chr12:75969297-75969298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2700521	chr12:75969345-75969346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs150662817	chr12:75969402-75969403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527791497	chr12:75969429-75969430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547438199	chr12:75969430-75969431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566374196	chr12:75969431-75969432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144818046	chr12:75969439-75969440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368050744	chr12:75969449-75969450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369953138	chr12:75969451-75969452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373109153	chr12:75969453-75969454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377753084	chr12:75969466-75969467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371302178	chr12:75969470-75969471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376325443	chr12:75969473-75969474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532162664	chr12:75969509-75969510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144864198	chr12:75969558-75969559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569034334	chr12:75969626-75969627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538115997	chr12:75969675-75969676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554281810	chr12:75969716-75969717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568018303	chr12:75969717-75969718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548166320	chr12:75969718-75969719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189757708	chr12:75969730-75969731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184126362	chr12:75969731-75969732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567367973	chr12:75969773-75969774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577547173	chr12:75969799-75969800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148583396	chr12:75969807-75969808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556691258	chr12:75969842-75969843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141977370	chr12:75969885-75969886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112663774	chr12:75969948-75969949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561944380	chr12:75969970-75969971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527673111	chr12:75969986-75969987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1299149	chr12:75970011-75970012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11180578	chr12:75970025-75970026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564221829	chr12:75970037-75970038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75965400-75977200	Weak transcription	Fetal Brain Female	brain
2	chr12:75966800-75968800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:75967000-75978800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:75968800-75969000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:75969000-75969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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