Variant report

Variant	esv1820779
Chromosome Location	chr12:50835060-50858820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50838040..50839651-chr12:50846886..50849566,2	K562	blood:
2	chr12:50834513..50836638-chr12:50838122..50840024,2	K562	blood:
3	chr12:50829934..50834172-chr12:50845502..50848522,3	MCF-7	breast:
4	chr12:50834513..50836638-chr12:50838122..50840024,2	K562	blood:
5	chr12:50838041..50839748-chr12:50842685..50844805,2	K562	blood:
6	chr12:50855792..50857540-chr12:50858968..50861259,2	K562	blood:
7	chr12:50819049..50821406-chr12:50835260..50836787,2	MCF-7	breast:
8	chr12:50804657..50806853-chr12:50839732..50842092,2	K562	blood:
9	chr12:50838040..50839651-chr12:50846886..50849566,2	K562	blood:
10	chr12:50838041..50839748-chr12:50842685..50844805,2	K562	blood:

No data

Extended variants
information (count: 904 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10876035	chr12:50835060-50835061	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150456194	chr12:50835085-50835086	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372782420	chr12:50835306-50835307	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375893849	chr12:50835389-50835390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371958202	chr12:50835408-50835409	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540112594	chr12:50835410-50835411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200772979	chr12:50835434-50835435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78254121	chr12:50835446-50835447	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187173035	chr12:50835476-50835477	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541985789	chr12:50835485-50835486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12821232	chr12:50835554-50835555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78454232	chr12:50835558-50835559	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369336991	chr12:50835572-50835573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571762055	chr12:50835579-50835580	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149637592	chr12:50835591-50835592	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564091548	chr12:50835651-50835652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532815813	chr12:50835660-50835661	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549769047	chr12:50835694-50835695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74593630	chr12:50835758-50835759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529210481	chr12:50835849-50835850	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191705983	chr12:50835864-50835865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184571890	chr12:50835892-50835893	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553171285	chr12:50835904-50835905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574533316	chr12:50835922-50835923	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534279747	chr12:50835940-50835941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147334560	chr12:50836062-50836063	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535769328	chr12:50836073-50836074	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139012602	chr12:50836085-50836086	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116816936	chr12:50836089-50836090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188754567	chr12:50836090-50836091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576288927	chr12:50836130-50836131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372462098	chr12:50836166-50836167	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79765828	chr12:50836169-50836170	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117801735	chr12:50836260-50836261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541098664	chr12:50836264-50836265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563997257	chr12:50836270-50836271	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556972261	chr12:50836331-50836332	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144173565	chr12:50836404-50836405	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577682601	chr12:50836422-50836423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543008241	chr12:50836442-50836443	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563274558	chr12:50836501-50836502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529196859	chr12:50836513-50836514	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575236865	chr12:50836900-50836901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147474421	chr12:50836943-50836944	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192838443	chr12:50836946-50836947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528305535	chr12:50836964-50836965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185829698	chr12:50837033-50837034	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570825510	chr12:50837035-50837036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575322498	chr12:50837039-50837040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149709534	chr12:50837040-50837041	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
3	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:50819800-50842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:50820000-50835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50820000-50835600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:50820000-50841400	Weak transcription	Esophagus	oesophagus
9	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
10	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50820200-50835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:50820600-50839400	Strong transcription	Fetal Thymus	thymus
15	chr12:50820600-50843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:50820800-50839600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:50821000-50839600	Strong transcription	Hela-S3	cervix
18	chr12:50821000-50841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:50821000-50843000	Strong transcription	Placenta	Placenta
20	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:50821600-50836200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:50821600-50836800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:50821600-50836800	Strong transcription	A549	lung
27	chr12:50821600-50839600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:50821600-50839600	Strong transcription	Adipose Nuclei	Adipose
29	chr12:50821600-50842800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
32	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:50821600-50850600	Strong transcription	Dnd41	blood
34	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:50821800-50839600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:50822000-50841400	Strong transcription	Osteobl	bone
46	chr12:50822000-50843400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr12:50822000-50843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:50822200-50842200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:50822400-50836600	Strong transcription	Primary B cells from cord blood	blood
50	chr12:50822400-50839400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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