Variant report

Variant	nsv975459
Chromosome Location	chr12:21620789-21623981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149783165	chr12:21620796-21620797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561257479	chr12:21620803-21620804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548009328	chr12:21620842-21620843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147482907	chr12:21620869-21620870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73067241	chr12:21620896-21620897	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185612772	chr12:21620903-21620904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116461185	chr12:21620905-21620906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552260493	chr12:21620908-21620909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34425665	chr12:21620951-21620952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552466588	chr12:21620989-21620990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562114886	chr12:21621067-21621068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531233418	chr12:21621084-21621085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189980485	chr12:21621111-21621112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568103858	chr12:21621211-21621212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147724280	chr12:21621264-21621265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547231837	chr12:21621265-21621266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570671984	chr12:21621311-21621312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539711729	chr12:21621341-21621342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556520563	chr12:21621343-21621344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575692058	chr12:21621354-21621355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537891664	chr12:21621361-21621362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116232125	chr12:21621365-21621366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576911333	chr12:21621370-21621371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574789763	chr12:21621376-21621377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182347697	chr12:21621389-21621390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377159979	chr12:21621402-21621403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201100758	chr12:21621410-21621411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377446449	chr12:21621415-21621416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11046075	chr12:21621419-21621420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562879580	chr12:21621432-21621433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374740823	chr12:21621436-21621437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142612258	chr12:21621437-21621438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113269197	chr12:21621460-21621461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370812903	chr12:21621462-21621463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375076016	chr12:21621475-21621476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547924712	chr12:21621516-21621517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145568024	chr12:21621533-21621534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11550068	chr12:21621563-21621564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148866423	chr12:21621567-21621568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368078721	chr12:21621581-21621582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199852910	chr12:21621603-21621604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367830548	chr12:21621612-21621613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370018142	chr12:21621669-21621670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570635467	chr12:21621724-21621725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12422251	chr12:21621737-21621738	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs373685050	chr12:21621778-21621779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377587705	chr12:21621801-21621802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71448605	chr12:21621817-21621818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs570010651	chr12:21621829-21621830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7319	chr12:21621891-21621892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
4	chr12:21592800-21631400	Weak transcription	K562	blood
5	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
6	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:21595800-21633200	Weak transcription	Gastric	stomach
10	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
12	chr12:21596200-21625000	Weak transcription	NHLF	lung
13	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:21599000-21624400	Weak transcription	Fetal Brain Male	brain
15	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
16	chr12:21600000-21624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:21600400-21624400	Weak transcription	Fetal Kidney	kidney
18	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:21610600-21626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:21611000-21625000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
22	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
23	chr12:21611200-21631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:21611200-21640800	Weak transcription	Fetal Heart	heart
25	chr12:21611600-21624200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:21611800-21626600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:21612200-21624400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:21612200-21630800	Weak transcription	Spleen	Spleen
29	chr12:21612400-21624400	Weak transcription	Fetal Brain Female	brain
30	chr12:21612400-21625200	Weak transcription	Aorta	Aorta
31	chr12:21612400-21627200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:21612600-21624800	Weak transcription	Brain Germinal Matrix	brain
33	chr12:21612600-21631000	Weak transcription	Lung	lung
34	chr12:21612800-21625400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:21613000-21624400	Weak transcription	Left Ventricle	heart
36	chr12:21613800-21631600	Weak transcription	Fetal Stomach	stomach
37	chr12:21614000-21625000	Weak transcription	NHEK	skin
38	chr12:21614600-21621400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:21615000-21621200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:21615200-21623800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:21615200-21624200	Weak transcription	HUVEC	blood vessel
43	chr12:21615600-21624400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:21615600-21624400	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:21616400-21624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:21616600-21631800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
48	chr12:21617200-21624400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:21617400-21621000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:21617400-21621400	Weak transcription	Fetal Intestine Large	intestine

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