Variant report

Variant	nsv1061219
Chromosome Location	chr20:41613071-41673335
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
2	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
3	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
4	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
5	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
6	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
7	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
8	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:

No data

Extended variants
information (count: 2083 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2083 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4812664	chr20:41613071-41613072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533682014	chr20:41613129-41613130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181490157	chr20:41613165-41613166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545805992	chr20:41613222-41613223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4812665	chr20:41613226-41613227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs4812666	chr20:41613244-41613245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17812382	chr20:41613257-41613258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148121336	chr20:41613348-41613349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576291543	chr20:41613366-41613367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545164500	chr20:41613395-41613396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141029805	chr20:41613398-41613399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6093768	chr20:41613400-41613401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11700210	chr20:41613408-41613409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150249361	chr20:41613452-41613453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540736786	chr20:41613462-41613463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6103114	chr20:41613481-41613482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560484154	chr20:41613490-41613491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529323542	chr20:41613497-41613498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73273667	chr20:41613498-41613499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185960631	chr20:41613549-41613550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531961438	chr20:41613559-41613560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6030584	chr20:41613573-41613574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190765277	chr20:41613577-41613578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138994410	chr20:41613607-41613608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571758672	chr20:41613644-41613645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7362119	chr20:41613656-41613657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533596181	chr20:41613663-41613664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534487538	chr20:41613673-41613674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142242596	chr20:41613688-41613689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6030585	chr20:41613706-41613707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181833076	chr20:41613730-41613731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555912666	chr20:41613746-41613747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546400922	chr20:41613749-41613750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569927896	chr20:41613761-41613762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538594758	chr20:41613771-41613772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6103115	chr20:41613808-41613809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572294934	chr20:41613809-41613810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6030586	chr20:41613832-41613833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554293646	chr20:41613859-41613860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574215675	chr20:41613889-41613890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186376551	chr20:41613890-41613891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190761839	chr20:41613964-41613965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183003351	chr20:41614005-41614006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565107402	chr20:41614020-41614021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527894829	chr20:41614022-41614023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373821650	chr20:41614086-41614087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6030587	chr20:41614091-41614092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187808222	chr20:41614095-41614096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34221406	chr20:41614107-41614108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549738522	chr20:41614128-41614129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Cervical cancer	16585170	CNVD
Developmental delay	21373258	CNVD
Breast cancer	21806811	CNVD
Mental retardation	17901693	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41610200-41619000	Weak transcription	Gastric	stomach
2	chr20:41611200-41614800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:41614400-41615200	Enhancers	Spleen	Spleen
4	chr20:41614400-41615800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr20:41614600-41615600	Enhancers	Brain Angular Gyrus	brain
6	chr20:41614800-41615200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:41614800-41615200	Enhancers	Brain Anterior Caudate	brain
8	chr20:41614800-41615600	Enhancers	HepG2	liver
9	chr20:41614800-41615800	Enhancers	Brain Cingulate Gyrus	brain
10	chr20:41614800-41615800	Enhancers	Brain Substantia Nigra	brain
11	chr20:41614800-41616600	Enhancers	Brain Hippocampus Middle	brain
12	chr20:41615200-41620600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:41615400-41616000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:41619600-41620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:41619800-41620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr20:41620200-41626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:41620600-41621000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:41621000-41621200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:41621200-41622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr20:41622400-41625800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:41625800-41626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr20:41626400-41626600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:41626600-41626800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr20:41626800-41629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:41629200-41629600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:41629600-41636400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr20:41632000-41632400	Enhancers	Fetal Lung	lung
28	chr20:41632400-41635200	Weak transcription	Fetal Lung	lung
29	chr20:41633600-41633800	Enhancers	Pancreas	Pancrea
30	chr20:41633800-41634000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr20:41633800-41635400	Weak transcription	Pancreas	Pancrea
32	chr20:41635200-41635800	Enhancers	Fetal Lung	lung
33	chr20:41635200-41636600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:41635400-41635600	Enhancers	Pancreas	Pancrea
35	chr20:41635800-41636200	Weak transcription	Fetal Lung	lung
36	chr20:41636000-41636600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr20:41636200-41636400	Enhancers	Aorta	Aorta
38	chr20:41636200-41636800	Enhancers	Fetal Lung	lung
39	chr20:41636400-41637000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:41636400-41637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr20:41642400-41642600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:41642600-41643000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:41643600-41644000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr20:41644000-41646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr20:41644400-41645400	Enhancers	Fetal Brain Female	brain
46	chr20:41644600-41646800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr20:41645400-41645800	Weak transcription	Fetal Brain Female	brain
48	chr20:41645800-41646200	Enhancers	Fetal Brain Female	brain
49	chr20:41646000-41646600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr20:41646000-41647200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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