Variant report

Variant	esv3339458
Chromosome Location	chr12:86996721-86998219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570728107	chr12:86996742-86996743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553102010	chr12:86996778-86996779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534881700	chr12:86996856-86996857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59317687	chr12:86996871-86996872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142227175	chr12:86996900-86996901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535631500	chr12:86996912-86996913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144516955	chr12:86996976-86996977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147861564	chr12:86997000-86997001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552847840	chr12:86997009-86997010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544963638	chr12:86997014-86997015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57146176	chr12:86997111-86997112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61950834	chr12:86997122-86997123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12426474	chr12:86997164-86997165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28869195	chr12:86997170-86997171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541721686	chr12:86997184-86997185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575288008	chr12:86997185-86997186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28759809	chr12:86997204-86997205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28887571	chr12:86997213-86997214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564160119	chr12:86997232-86997233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540326108	chr12:86997288-86997289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184436753	chr12:86997294-86997295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367870887	chr12:86997305-86997306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372098346	chr12:86997309-86997310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375119281	chr12:86997311-86997312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371152999	chr12:86997318-86997319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199990436	chr12:86997322-86997323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559594174	chr12:86997325-86997326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574723396	chr12:86997329-86997330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570830492	chr12:86997349-86997350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138195188	chr12:86998043-86998044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566155431	chr12:86998055-86998056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149169102	chr12:86998090-86998091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532124200	chr12:86998104-86998105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553290732	chr12:86998124-86998125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574787278	chr12:86998161-86998162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549080863	chr12:86998177-86998178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138440147	chr12:86998178-86998179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74906695	chr12:86998204-86998205	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86994800-86997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86998000-86999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:86998000-86999600	Enhancers	NHEK	skin
4	chr12:86998200-86999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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