Variant report

Variant	nsv912874
Chromosome Location	chr20:40947084-40972949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:40945609..40947782-chr20:40948642..40950404,2	K562	blood:
2	chr20:40945609..40947782-chr20:40948642..40950404,2	K562	blood:
3	chr20:40940770..40942832-chr20:40947737..40949498,2	MCF-7	breast:

Extended variants
information (count: 763 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17317153	chr20:40947084-40947085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563557169	chr20:40947118-40947119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532288322	chr20:40947171-40947172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143292566	chr20:40947173-40947174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181956034	chr20:40947190-40947191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549609311	chr20:40947222-40947223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146808562	chr20:40947301-40947302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547860149	chr20:40947355-40947356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567726586	chr20:40947395-40947396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533278659	chr20:40947560-40947561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567701684	chr20:40947561-40947562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6093615	chr20:40947646-40947647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550118512	chr20:40947667-40947668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570297525	chr20:40947685-40947686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370764585	chr20:40947698-40947699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140528620	chr20:40947720-40947721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6130103	chr20:40947721-40947722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187417488	chr20:40947740-40947741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145630773	chr20:40947752-40947753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192130374	chr20:40947782-40947783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554648493	chr20:40947799-40947800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138774140	chr20:40947812-40947813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537811645	chr20:40947818-40947819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76701633	chr20:40947821-40947822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73273135	chr20:40947869-40947870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576650487	chr20:40947870-40947871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76189671	chr20:40947886-40947887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56303786	chr20:40947903-40947904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80209239	chr20:40947905-40947906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75152625	chr20:40947914-40947915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75795334	chr20:40947915-40947916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76945909	chr20:40947916-40947917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11483379	chr20:40947917-40947918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199605686	chr20:40947918-40947919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545658236	chr20:40947973-40947974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559230915	chr20:40947985-40947986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527632439	chr20:40948027-40948028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571400615	chr20:40948053-40948054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547519739	chr20:40948076-40948077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561422570	chr20:40948078-40948079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530168597	chr20:40948087-40948088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59394265	chr20:40948118-40948119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570233307	chr20:40948143-40948144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539248015	chr20:40948181-40948182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180864386	chr20:40948318-40948319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566424285	chr20:40948328-40948329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73906903	chr20:40948485-40948486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554304259	chr20:40948507-40948508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574454180	chr20:40948513-40948514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538238746	chr20:40948602-40948603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	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
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40947000-40947400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr20:40947000-40947600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:40947000-40947600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr20:40947000-40947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:40947200-40947600	Enhancers	Fetal Brain Female	brain
7	chr20:40947200-40947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:40947200-40947800	Enhancers	Fetal Brain Male	brain
9	chr20:40947600-40948600	Weak transcription	Fetal Brain Female	brain
10	chr20:40947600-40949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:40947800-40949000	Weak transcription	Fetal Brain Male	brain
12	chr20:40948600-40948800	Enhancers	Fetal Brain Female	brain
13	chr20:40949000-40949200	Enhancers	Fetal Brain Male	brain
14	chr20:40956200-40957000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:40957400-40957800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:40958000-40958200	Enhancers	Fetal Brain Male	brain
17	chr20:40964000-40964400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:40964400-40966800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:40964800-40969800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:40965000-40965200	Enhancers	Brain Angular Gyrus	brain
21	chr20:40965000-40965200	Enhancers	Fetal Brain Male	brain
22	chr20:40965000-40965800	Enhancers	Fetal Stomach	stomach
23	chr20:40965000-40970400	Enhancers	Fetal Muscle Leg	muscle
24	chr20:40965200-40967200	Weak transcription	Fetal Brain Male	brain
25	chr20:40965400-40966800	Weak transcription	Brain Angular Gyrus	brain
26	chr20:40965600-40969400	Enhancers	Fetal Lung	lung
27	chr20:40965800-40967000	Weak transcription	Fetal Stomach	stomach
28	chr20:40966200-40966800	Enhancers	Left Ventricle	heart
29	chr20:40966400-40966800	Enhancers	Right Ventricle	heart
30	chr20:40966400-40968400	Enhancers	Brain Hippocampus Middle	brain
31	chr20:40966600-40966800	Enhancers	Right Atrium	heart
32	chr20:40966600-40966800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr20:40966600-40967800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:40966600-40968200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr20:40966600-40968200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr20:40966600-40968800	Enhancers	Psoas Muscle	Psoas
37	chr20:40966800-40967800	Weak transcription	Right Atrium	heart
38	chr20:40966800-40968000	Weak transcription	Right Ventricle	heart
39	chr20:40966800-40968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:40966800-40968400	Enhancers	Brain Angular Gyrus	brain
41	chr20:40966800-40969200	Weak transcription	Left Ventricle	heart
42	chr20:40967000-40967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr20:40967000-40968200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:40967000-40968800	Enhancers	Adipose Nuclei	Adipose
45	chr20:40967000-40969200	Enhancers	Fetal Stomach	stomach
46	chr20:40967200-40968000	Enhancers	Fetal Brain Male	brain
47	chr20:40967600-40968200	Enhancers	Brain Substantia Nigra	brain
48	chr20:40967800-40968400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr20:40967800-40968600	Enhancers	Right Atrium	heart
50	chr20:40968200-40968400	Enhancers	Right Ventricle	heart

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