Variant report

Variant	esv2762075
Chromosome Location	chr20:41342302-41365700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
2	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
3	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
4	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
5	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
6	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:

Extended variants
information (count: 985 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75774892	chr20:41342338-41342339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6030434	chr20:41342353-41342354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113750537	chr20:41342361-41342362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201540695	chr20:41342362-41342363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567768757	chr20:41342363-41342364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536313101	chr20:41342373-41342374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556725813	chr20:41342398-41342399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184451947	chr20:41342420-41342421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539359565	chr20:41342457-41342458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559278421	chr20:41342468-41342469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574886553	chr20:41342486-41342487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143427726	chr20:41342487-41342488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541051231	chr20:41342514-41342515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375919765	chr20:41342593-41342594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551539771	chr20:41342611-41342612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574487451	chr20:41342612-41342613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543106585	chr20:41342631-41342632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563549005	chr20:41342635-41342636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566983039	chr20:41342646-41342647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532194942	chr20:41342665-41342666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114200997	chr20:41342666-41342667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559197614	chr20:41342670-41342671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562220512	chr20:41342699-41342700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189282051	chr20:41342707-41342708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191720775	chr20:41342772-41342773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57627179	chr20:41342773-41342774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79480616	chr20:41342792-41342793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77689579	chr20:41342793-41342794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8184892	chr20:41342801-41342802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567511369	chr20:41342840-41342841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530213629	chr20:41342846-41342847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550003629	chr20:41342889-41342890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570264849	chr20:41342931-41342932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151123957	chr20:41342941-41342942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529521910	chr20:41342946-41342947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8182644	chr20:41342964-41342965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59295031	chr20:41343020-41343021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552776857	chr20:41343047-41343048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184233224	chr20:41343097-41343098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369730639	chr20:41343130-41343131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11905283	chr20:41343175-41343176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574108174	chr20:41343255-41343256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77797033	chr20:41343302-41343303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574350123	chr20:41343306-41343307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80286714	chr20:41343307-41343308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139238103	chr20:41343310-41343311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76965889	chr20:41343372-41343373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143162084	chr20:41343375-41343376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545613234	chr20:41343404-41343405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559086525	chr20:41343405-41343406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Myelofibrosis	22110671	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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41339400-41350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41342400-41343600	Enhancers	Pancreas	Pancrea
3	chr20:41342800-41343800	Enhancers	Stomach Mucosa	stomach
4	chr20:41343600-41346200	Weak transcription	Pancreas	Pancrea
5	chr20:41346400-41346600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr20:41346400-41346600	Enhancers	Pancreas	Pancrea
7	chr20:41350000-41350600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:41350600-41351000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:41351000-41359800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:41352200-41352600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:41355200-41356200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:41355600-41355800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:41355800-41356000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:41356000-41361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:41356200-41357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:41356200-41358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:41357200-41358400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:41357600-41358400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:41357600-41358400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:41357600-41358600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:41357800-41358400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:41358000-41358400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:41358000-41358400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr20:41359800-41360200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:41360200-41360400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:41360400-41360600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr20:41360600-41370200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr20:41361800-41362600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr20:41363200-41364600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr20:41363400-41364000	Enhancers	Fetal Muscle Leg	muscle
31	chr20:41364000-41368400	Weak transcription	Fetal Muscle Leg	muscle
32	chr20:41364200-41364600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links