Variant report

Variant	nsv557956
Chromosome Location	chr12:29845070-29851719
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: 288 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142651193	chr12:29845078-29845079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187170250	chr12:29845087-29845088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556518630	chr12:29845184-29845185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192469688	chr12:29845186-29845187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538965398	chr12:29845249-29845250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73271799	chr12:29845301-29845302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572122329	chr12:29845306-29845307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542645620	chr12:29845310-29845311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183392323	chr12:29845311-29845312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149617538	chr12:29845318-29845319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540452169	chr12:29845319-29845320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74648260	chr12:29845331-29845332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543594269	chr12:29845378-29845379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138603585	chr12:29845394-29845395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185898512	chr12:29845480-29845481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547398812	chr12:29845485-29845486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559359132	chr12:29845489-29845490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36023554	chr12:29845494-29845495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529701047	chr12:29845520-29845521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11050380	chr12:29845646-29845647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149285625	chr12:29845786-29845787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117296761	chr12:29845804-29845805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115120369	chr12:29845810-29845811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116819732	chr12:29845812-29845813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144291432	chr12:29845814-29845815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190714872	chr12:29845833-29845834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59233878	chr12:29845834-29845835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564476271	chr12:29845835-29845836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562636184	chr12:29845845-29845846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566059780	chr12:29845873-29845874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536243156	chr12:29845898-29845899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182543712	chr12:29845909-29845910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576442226	chr12:29845947-29845948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551468048	chr12:29845995-29845996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111794323	chr12:29846108-29846109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566652623	chr12:29846109-29846110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558691892	chr12:29846119-29846120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576981843	chr12:29846124-29846125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541263965	chr12:29846127-29846128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559666201	chr12:29846161-29846162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34641807	chr12:29846199-29846200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530066335	chr12:29846205-29846206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188382539	chr12:29846227-29846228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546916416	chr12:29846248-29846249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148741363	chr12:29846340-29846341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190778338	chr12:29846360-29846361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530598311	chr12:29846361-29846362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183020538	chr12:29846365-29846366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116591176	chr12:29846372-29846373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116116346	chr12:29846391-29846392	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:80 , 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	chr12:29843000-29845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:29843200-29845200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:29844000-29845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:29844200-29845400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:29844600-29845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:29844600-29845400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:29844800-29845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:29844800-29845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:29844800-29850800	Weak transcription	HMEC	breast
31	chr12:29844800-29851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:29845000-29847000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:29845200-29851000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:29845400-29845600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:29845400-29846600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:29845600-29847000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:29845600-29850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:29845600-29851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:29845600-29851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:29847000-29847200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:29847000-29847600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:29847000-29847600	Enhancers	Fetal Heart	heart
43	chr12:29847400-29847600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:29847600-29848200	Enhancers	Left Ventricle	heart
45	chr12:29847800-29848200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:29847800-29848200	Enhancers	Psoas Muscle	Psoas
47	chr12:29847800-29848200	Enhancers	NHDF-Ad	bronchial
48	chr12:29848200-29854200	Weak transcription	NHDF-Ad	bronchial
49	chr12:29848200-29855200	Weak transcription	Psoas Muscle	Psoas
50	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart

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