Variant report

Variant	esv3442954
Chromosome Location	chr12:83293021-83296069
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	chr12:83290340..83292538-chr12:83294393..83296848,3	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555606696	chr12:83293088-83293089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371650420	chr12:83293096-83293097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10862520	chr12:83293097-83293098	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544744421	chr12:83293133-83293134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562985196	chr12:83293138-83293139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578041427	chr12:83293170-83293171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187711944	chr12:83293180-83293181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560484486	chr12:83293215-83293216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542383630	chr12:83293255-83293256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527655910	chr12:83293259-83293260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61361946	chr12:83293264-83293265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561973284	chr12:83293265-83293266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191404103	chr12:83293293-83293294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550743587	chr12:83293347-83293348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182196502	chr12:83293348-83293349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529528999	chr12:83293353-83293354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187166581	chr12:83293379-83293380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539125940	chr12:83293388-83293389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151224599	chr12:83293410-83293411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531889616	chr12:83293416-83293417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140441804	chr12:83293438-83293439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192933311	chr12:83293525-83293526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566245244	chr12:83293551-83293552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184567538	chr12:83293575-83293576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554944566	chr12:83293584-83293585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567944256	chr12:83293598-83293599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34515350	chr12:83293603-83293604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190319100	chr12:83293605-83293606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551083192	chr12:83293624-83293625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34592898	chr12:83293638-83293639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34565341	chr12:83293646-83293647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189378959	chr12:83293659-83293660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554272722	chr12:83293671-83293672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368074475	chr12:83293681-83293682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35648505	chr12:83293706-83293707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34506726	chr12:83293741-83293742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112635176	chr12:83293768-83293769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35873296	chr12:83293776-83293777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35425682	chr12:83293811-83293812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12580703	chr12:83293846-83293847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12579431	chr12:83293916-83293917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12579432	chr12:83293951-83293952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12579434	chr12:83293986-83293987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572579847	chr12:83294045-83294046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9668948	chr12:83294056-83294057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375868118	chr12:83294091-83294092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12581928	chr12:83294276-83294277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201622985	chr12:83294379-83294380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185265884	chr12:83294385-83294386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189004095	chr12:83294394-83294395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
abnormal development	18461090	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83274400-83304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:83274600-83298400	Weak transcription	Brain Angular Gyrus	brain
3	chr12:83278200-83313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:83281000-83306400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:83282000-83295200	Weak transcription	Fetal Stomach	stomach
7	chr12:83282400-83294600	Weak transcription	Fetal Kidney	kidney
8	chr12:83288400-83304200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:83289600-83293200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83289600-83293200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:83290000-83293200	Weak transcription	Esophagus	oesophagus
12	chr12:83290000-83296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:83290000-83303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:83290200-83297200	Weak transcription	Gastric	stomach
15	chr12:83290200-83307400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:83290400-83307400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:83290600-83301000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:83290600-83306000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:83291000-83304000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:83291200-83293600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:83291200-83298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:83291400-83293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:83291400-83295000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:83291800-83293200	Enhancers	Fetal Lung	lung
25	chr12:83292000-83293200	Enhancers	Stomach Mucosa	stomach
26	chr12:83292200-83293200	Enhancers	Fetal Heart	heart
27	chr12:83292400-83293200	Enhancers	Pancreas	Pancrea
28	chr12:83292400-83293200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:83293000-83293200	Enhancers	Ovary	ovary
30	chr12:83293200-83295400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:83293200-83295400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:83293200-83298000	Weak transcription	Fetal Lung	lung
33	chr12:83293200-83298600	Weak transcription	Stomach Mucosa	stomach
34	chr12:83293200-83312800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:83294800-83297000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:83295000-83297400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:83295200-83296600	Strong transcription	Fetal Stomach	stomach
39	chr12:83295400-83296200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:83295400-83297200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:83296000-83296400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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