Variant report

Variant	esv3377225
Chromosome Location	chr12:120849167-120849602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120843298..120845547-chr12:120848806..120851081,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377519974	chr12:120849179-120849180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543291798	chr12:120849222-120849223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373428137	chr12:120849226-120849227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34226015	chr12:120849227-120849228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386377927	chr12:120849241-120849242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397955061	chr12:120849242-120849243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80049880	chr12:120849243-120849244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563082372	chr12:120849283-120849284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576579087	chr12:120849284-120849285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116935727	chr12:120849350-120849351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565334780	chr12:120849363-120849364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189002586	chr12:120849368-120849369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11065103	chr12:120849383-120849384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374562786	chr12:120849384-120849385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181363058	chr12:120849426-120849427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530073404	chr12:120849448-120849449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550039733	chr12:120849484-120849485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569898713	chr12:120849503-120849504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546964591	chr12:120849509-120849510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551969784	chr12:120849510-120849511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377427416	chr12:120849550-120849551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10849746	chr12:120849551-120849552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370877409	chr12:120849554-120849555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10849747	chr12:120849555-120849556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186643945	chr12:120849558-120849559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58987386	chr12:120849572-120849573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76591315	chr12:120849574-120849575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77158020	chr12:120849575-120849576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534393443	chr12:120849580-120849581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs206944	chr12:120849594-120849595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120840600-120851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:120840600-120851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:120844400-120850200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:120844600-120850000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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