Variant report

Variant	esv3485007
Chromosome Location	chr12:29843843-29846964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538321092	chr12:29843854-29843855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61922258	chr12:29843864-29843865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553815104	chr12:29843868-29843869	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371406173	chr12:29843963-29843964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547123732	chr12:29843965-29843966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540826647	chr12:29843985-29843986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556038845	chr12:29843995-29843996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574344202	chr12:29844032-29844033	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544927089	chr12:29844042-29844043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117432310	chr12:29844067-29844068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533380836	chr12:29844077-29844078	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115799882	chr12:29844078-29844079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560628991	chr12:29844098-29844099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113189032	chr12:29844116-29844117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372919509	chr12:29844144-29844145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184200422	chr12:29844146-29844147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188953495	chr12:29844153-29844154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550064220	chr12:29844279-29844280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141834346	chr12:29844294-29844295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571485006	chr12:29844321-29844322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73271791	chr12:29844357-29844358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547125065	chr12:29844376-29844377	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35998201	chr12:29844419-29844420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565771156	chr12:29844429-29844430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181096568	chr12:29844507-29844508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12321940	chr12:29844526-29844527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574307449	chr12:29844531-29844532	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185539956	chr12:29844559-29844560	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115911637	chr12:29844573-29844574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569250525	chr12:29844601-29844602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73271795	chr12:29844615-29844616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112531374	chr12:29844625-29844626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189104968	chr12:29844632-29844633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34338128	chr12:29844653-29844654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs71045828	chr12:29844654-29844655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574016171	chr12:29844666-29844667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114371979	chr12:29844671-29844672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572158906	chr12:29844686-29844687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367599356	chr12:29844693-29844694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12308416	chr12:29844755-29844756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11050379	chr12:29844792-29844793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149183674	chr12:29844799-29844800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549737716	chr12:29844817-29844818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113752437	chr12:29844838-29844839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143080074	chr12:29844845-29844846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181005243	chr12:29844853-29844854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148208899	chr12:29844871-29844872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140131677	chr12:29844872-29844873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575132539	chr12:29844935-29844936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145236860	chr12:29844944-29844945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
5	chr12:29830000-29844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:29830200-29857400	Weak transcription	HSMM	muscle
9	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:29835000-29846800	Weak transcription	Right Ventricle	heart
14	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:29837800-29844000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:29840200-29844200	Weak transcription	HMEC	breast
19	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:29842000-29847800	Weak transcription	Psoas Muscle	Psoas
21	chr12:29842200-29847000	Weak transcription	Fetal Heart	heart
22	chr12:29842400-29847600	Weak transcription	Left Ventricle	heart
23	chr12:29842600-29845600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:29842800-29844000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:29842800-29844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:29843000-29845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:29843200-29845200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:29843800-29844200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:29843800-29844200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:29843800-29844200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:29843800-29844200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:29843800-29844200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:29843800-29844600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:29843800-29844600	Enhancers	NHEK	skin
35	chr12:29843800-29844800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:29843800-29844800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:29843800-29845000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:29844000-29844400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:29844000-29844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:29844000-29844800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:29844000-29845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:29844200-29844600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:29844200-29844800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:29844200-29844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:29844200-29844800	Enhancers	HMEC	breast
46	chr12:29844200-29845400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:29844600-29845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:29844600-29845400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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