Variant report

Variant	esv1826337
Chromosome Location	chr12:29844526-29851719
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	chr12:29837250..29839859-chr12:29849610..29851596,2	K562	blood:

Extended variants
information (count: 317 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12321940	chr12:29844526-29844527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574307449	chr12:29844531-29844532	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185539956	chr12:29844559-29844560	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115911637	chr12:29844573-29844574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569250525	chr12:29844601-29844602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73271795	chr12:29844615-29844616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112531374	chr12:29844625-29844626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189104968	chr12:29844632-29844633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34338128	chr12:29844653-29844654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71045828	chr12:29844654-29844655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574016171	chr12:29844666-29844667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114371979	chr12:29844671-29844672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572158906	chr12:29844686-29844687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs367599356	chr12:29844693-29844694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12308416	chr12:29844755-29844756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11050379	chr12:29844792-29844793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149183674	chr12:29844799-29844800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549737716	chr12:29844817-29844818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113752437	chr12:29844838-29844839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143080074	chr12:29844845-29844846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181005243	chr12:29844853-29844854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148208899	chr12:29844871-29844872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140131677	chr12:29844872-29844873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575132539	chr12:29844935-29844936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145236860	chr12:29844944-29844945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565683577	chr12:29844995-29844996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536327479	chr12:29845002-29845003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544887947	chr12:29845033-29845034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138153760	chr12:29845066-29845067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142651193	chr12:29845078-29845079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187170250	chr12:29845087-29845088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556518630	chr12:29845184-29845185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192469688	chr12:29845186-29845187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538965398	chr12:29845249-29845250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73271799	chr12:29845301-29845302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572122329	chr12:29845306-29845307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542645620	chr12:29845310-29845311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183392323	chr12:29845311-29845312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149617538	chr12:29845318-29845319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540452169	chr12:29845319-29845320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74648260	chr12:29845331-29845332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543594269	chr12:29845378-29845379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138603585	chr12:29845394-29845395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185898512	chr12:29845480-29845481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547398812	chr12:29845485-29845486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559359132	chr12:29845489-29845490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36023554	chr12:29845494-29845495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529701047	chr12:29845520-29845521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11050380	chr12:29845646-29845647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149285625	chr12:29845786-29845787	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:92 , 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	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
4	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:29830200-29857400	Weak transcription	HSMM	muscle
7	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:29835000-29846800	Weak transcription	Right Ventricle	heart
12	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29842000-29847800	Weak transcription	Psoas Muscle	Psoas
17	chr12:29842200-29847000	Weak transcription	Fetal Heart	heart
18	chr12:29842400-29847600	Weak transcription	Left Ventricle	heart
19	chr12:29842600-29845600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:29842800-29844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:29843000-29845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:29843200-29845200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:29843800-29844600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:29843800-29844600	Enhancers	NHEK	skin
25	chr12:29843800-29844800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:29843800-29844800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:29843800-29845000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:29844000-29844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:29844000-29844800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:29844000-29845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:29844200-29844600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:29844200-29844800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:29844200-29844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:29844200-29844800	Enhancers	HMEC	breast
35	chr12:29844200-29845400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:29844600-29845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:29844600-29845400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:29844800-29845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:29844800-29845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:29844800-29850800	Weak transcription	HMEC	breast
43	chr12:29844800-29851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:29845000-29847000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:29845200-29851000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:29845400-29845600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:29845400-29846600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:29845600-29847000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:29845600-29850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:29845600-29851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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