Variant report

Variant	nsv976585
Chromosome Location	chr12:21599522-21601583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:21599738-21599894	K562	blood:	n/a	chr12:21599799-21599810
2	CEBPB	chr12:21599715-21599883	HepG2	liver:	n/a	chr12:21599799-21599810
3	FOXA2	chr12:21600678-21600949	A549	lung:	n/a	n/a
4	POLR2A	chr12:21601086-21601158	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21594525..21596330-chr12:21596660..21599628,2	K562	blood:

Variant related genes	Relation type
TCEB1P31	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35851430	chr12:21599591-21599592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149114643	chr12:21599620-21599621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563583556	chr12:21599621-21599622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576323457	chr12:21599626-21599627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12311412	chr12:21599636-21599637	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183951508	chr12:21599643-21599644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7308870	chr12:21599648-21599649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143638221	chr12:21599677-21599678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561356202	chr12:21599699-21599700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370497627	chr12:21599710-21599711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67351735	chr12:21599717-21599718	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575708374	chr12:21599718-21599719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188334500	chr12:21599765-21599766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73067963	chr12:21599779-21599780	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535085398	chr12:21599811-21599812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548999756	chr12:21599839-21599840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565627422	chr12:21599849-21599850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555254621	chr12:21599852-21599853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117520340	chr12:21599866-21599867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374532562	chr12:21599935-21599936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77392592	chr12:21599940-21599941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35872726	chr12:21599956-21599957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180752427	chr12:21599965-21599966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560279347	chr12:21600001-21600002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573905788	chr12:21600040-21600041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17682270	chr12:21600044-21600045	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141854898	chr12:21600050-21600051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562190874	chr12:21600074-21600075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187332590	chr12:21600140-21600141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375078472	chr12:21600142-21600143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73067965	chr12:21600145-21600146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7298136	chr12:21600175-21600176	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs549992896	chr12:21600239-21600240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563814589	chr12:21600281-21600282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529630535	chr12:21600285-21600286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548697021	chr12:21600315-21600316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565620980	chr12:21600330-21600331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371616891	chr12:21600377-21600378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1476906	chr12:21600406-21600407	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs571387293	chr12:21600414-21600415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537219909	chr12:21600434-21600435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57595949	chr12:21600439-21600440	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1476907	chr12:21600443-21600444	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs536501791	chr12:21600452-21600453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553001332	chr12:21600454-21600455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547626232	chr12:21600475-21600476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541050990	chr12:21600512-21600513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190689175	chr12:21600520-21600521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181994170	chr12:21600568-21600569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543601915	chr12:21600579-21600580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
5	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:21591800-21600000	Weak transcription	HSMM	muscle
7	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
9	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
17	chr12:21592200-21609000	Weak transcription	NH-A	brain
18	chr12:21592200-21609000	Weak transcription	NHDF-Ad	bronchial
19	chr12:21592200-21609200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:21592400-21610400	Weak transcription	NHEK	skin
21	chr12:21592600-21609200	Weak transcription	Small Intestine	intestine
22	chr12:21592800-21631400	Weak transcription	K562	blood
23	chr12:21593400-21604400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:21593400-21606600	Strong transcription	Liver	Liver
25	chr12:21593400-21609000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:21593400-21609000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:21594200-21601600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:21594800-21605800	Strong transcription	Fetal Thymus	thymus
31	chr12:21594800-21613200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:21595200-21608800	Weak transcription	HMEC	breast
33	chr12:21595400-21599800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:21595600-21602200	Weak transcription	Osteobl	bone
35	chr12:21595600-21609200	Weak transcription	Colonic Mucosa	Colon
36	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
37	chr12:21595800-21606400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:21595800-21609000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:21595800-21609000	Weak transcription	HSMMtube	muscle
40	chr12:21595800-21609200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:21595800-21609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:21595800-21610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:21595800-21611000	Weak transcription	HepG2	liver
44	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:21595800-21633200	Weak transcription	Gastric	stomach
48	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:21596000-21600600	Weak transcription	Esophagus	oesophagus
50	chr12:21596000-21605000	Strong transcription	Primary T cells fromperipheralblood	blood

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