Variant report

Variant	esv3434685
Chromosome Location	chr12:40640535-40642683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370915096	chr12:40640561-40640562	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567465963	chr12:40640609-40640610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1388596	chr12:40640626-40640627	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143930259	chr12:40640693-40640694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146414591	chr12:40640704-40640705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369712602	chr12:40640741-40640742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530747234	chr12:40640818-40640819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538993641	chr12:40640819-40640820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557049588	chr12:40640841-40640842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140818306	chr12:40640867-40640868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376554033	chr12:40640889-40640890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528492429	chr12:40641026-40641027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373300398	chr12:40641048-40641049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191410221	chr12:40641059-40641060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552366587	chr12:40641081-40641082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561252181	chr12:40641082-40641083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573062599	chr12:40641118-40641119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73276871	chr12:40641157-40641158	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559373173	chr12:40641173-40641174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10544982	chr12:40641232-40641233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398098158	chr12:40641234-40641235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144637233	chr12:40641287-40641288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551489152	chr12:40641290-40641291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563129031	chr12:40641298-40641299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530568541	chr12:40641302-40641303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10450793	chr12:40641307-40641308	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201868509	chr12:40641308-40641309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200048237	chr12:40641315-40641316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201011332	chr12:40641317-40641318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187666349	chr12:40641319-40641320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201338013	chr12:40641320-40641321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201015062	chr12:40641323-40641324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201595811	chr12:40641325-40641326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199631346	chr12:40641328-40641329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2708442	chr12:40641329-40641330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546497768	chr12:40641331-40641332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571445730	chr12:40641336-40641337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112161151	chr12:40641366-40641367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534375242	chr12:40641390-40641391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553028642	chr12:40641392-40641393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56277949	chr12:40641419-40641420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568004362	chr12:40641420-40641421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540613675	chr12:40641437-40641438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2952713	chr12:40641467-40641468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201370158	chr12:40641470-40641471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202115776	chr12:40641473-40641474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200483913	chr12:40641475-40641476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201341969	chr12:40641477-40641478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557466724	chr12:40641478-40641479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28417544	chr12:40641499-40641500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40644400	Weak transcription	Gastric	stomach
2	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
4	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
10	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
15	chr12:40630600-40643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:40633200-40643800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:40633400-40646600	Weak transcription	Ovary	ovary
23	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
24	chr12:40635000-40647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:40635000-40647400	Weak transcription	Lung	lung
26	chr12:40635200-40648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:40636200-40648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:40636200-40648200	Weak transcription	NHDF-Ad	bronchial
29	chr12:40636400-40643600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:40637400-40640800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:40637400-40647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:40638200-40641800	Weak transcription	Primary B cells from cord blood	blood
33	chr12:40639600-40643600	Weak transcription	Liver	Liver
34	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:40640400-40640600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:40640400-40640600	Enhancers	Pancreas	Pancrea
37	chr12:40640400-40640600	Active TSS	Spleen	Spleen
38	chr12:40640400-40640800	Enhancers	A549	lung
39	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
40	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
41	chr12:40640800-40641800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:40640800-40641800	Weak transcription	A549	lung
43	chr12:40640800-40642400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:40641800-40642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:40641800-40642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:40641800-40642800	Enhancers	A549	lung
48	chr12:40641800-40642800	Enhancers	NHEK	skin
49	chr12:40641800-40643000	Enhancers	GM12878-XiMat	blood
50	chr12:40641800-40643000	Enhancers	HMEC	breast

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