Variant report

Variant	nsv1056067
Chromosome Location	chr20:11174581-11213919
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:6)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:10655152..10655986-chr20:11185609..11186210,2	MCF-7	breast:
2	chr20:10654014..10656712-chr20:11187168..11189438,2	MCF-7	breast:
3	chr20:10676677..10677565-chr20:11185885..11186708,3	MCF-7	breast:
4	chr20:11185575..11186124-chr20:11254374..11255017,2	MCF-7	breast:
5	chr20:10640132..10642054-chr20:11188843..11191307,2	MCF-7	breast:
6	chr20:10652777..10656154-chr20:11197961..11200828,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JAG1-10	chr20:11201982-11202031	NONHSAT078624
2	lnc-JAG1-10	chr20:11198907-11199326	NONHSAT078624
3	lnc-JAG1-10	chr20:11197398-11197483	NONHSAT078625
4	lnc-JAG1-10	chr20:11197398-11197530	NONHSAT078624
5	lnc-JAG1-10	chr20:11195308-11197530	ucscGeneNc_uc002wnx_2
6	lnc-JAG1-10	chr20:11201982-11202028	ucscGeneNc_uc002wnx_2
7	lnc-JAG1-10	chr20:11199853-11199931	NONHSAT078624
8	lnc-JAG1-10	chr20:11194764-11195091	NONHSAT078625

No data

Variant related genes	Relation type
ENSG00000270792	chromatin interactions
ENSG00000101384	chromatin interactions

Extended variants
information (count: 1672 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1672 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569790361	chr20:11174634-11174635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566814180	chr20:11174653-11174654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535384253	chr20:11174688-11174689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572415235	chr20:11174796-11174797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540621144	chr20:11174854-11174855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560570562	chr20:11174858-11174859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2207418	chr20:11174903-11174904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	disease
8	rs549478740	chr20:11174915-11174916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562905539	chr20:11174917-11174918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531800262	chr20:11174942-11174943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551614580	chr20:11174995-11174996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182651089	chr20:11175018-11175019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188863595	chr20:11175022-11175023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75469250	chr20:11175036-11175037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567274137	chr20:11175040-11175041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112770308	chr20:11175042-11175043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138630610	chr20:11175046-11175047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558927177	chr20:11175102-11175103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149310687	chr20:11175142-11175143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144544654	chr20:11175170-11175171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558826633	chr20:11175204-11175205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574096874	chr20:11175218-11175219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370348657	chr20:11175225-11175226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572352898	chr20:11175258-11175259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576859591	chr20:11175268-11175269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541367059	chr20:11175305-11175306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202167582	chr20:11175310-11175311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370578981	chr20:11175332-11175333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373726170	chr20:11175348-11175349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560260749	chr20:11175351-11175352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148445274	chr20:11175352-11175353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193107558	chr20:11175353-11175354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185846660	chr20:11175363-11175364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531740860	chr20:11175365-11175366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551552149	chr20:11175375-11175376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565174644	chr20:11175396-11175397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187296161	chr20:11175402-11175403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548083626	chr20:11175421-11175422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567107936	chr20:11175436-11175437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576359157	chr20:11175459-11175460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79718329	chr20:11175469-11175470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142350936	chr20:11175475-11175476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538771884	chr20:11175476-11175477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183861567	chr20:11175493-11175494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576141246	chr20:11175515-11175516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572292865	chr20:11175528-11175529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188635555	chr20:11175533-11175534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554857273	chr20:11175580-11175581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192537350	chr20:11175625-11175626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543007964	chr20:11175677-11175678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11167600-11176400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr20:11168000-11176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr20:11168400-11176200	Weak transcription	HMEC	breast
4	chr20:11168600-11174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:11171000-11176200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:11173000-11174600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:11173600-11175600	Weak transcription	Fetal Lung	lung
8	chr20:11173600-11175800	Weak transcription	Fetal Stomach	stomach
9	chr20:11174200-11176400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:11174600-11175800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:11174800-11175800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:11175000-11175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:11175000-11176400	Enhancers	NHEK	skin
14	chr20:11175400-11175600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr20:11175400-11176400	Enhancers	Left Ventricle	heart
16	chr20:11175400-11177200	Enhancers	Fetal Intestine Large	intestine
17	chr20:11175400-11177400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:11175400-11177400	Enhancers	Fetal Intestine Small	intestine
19	chr20:11175400-11177600	Enhancers	Fetal Heart	heart
20	chr20:11175600-11176400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr20:11175600-11176600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr20:11175600-11177200	Enhancers	Fetal Lung	lung
23	chr20:11175600-11177200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr20:11175600-11177600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:11175800-11176000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:11175800-11176000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:11175800-11176000	Enhancers	Fetal Stomach	stomach
28	chr20:11175800-11176000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:11175800-11176000	Enhancers	Spleen	Spleen
30	chr20:11175800-11176200	Enhancers	Lung	lung
31	chr20:11175800-11176200	Enhancers	Right Ventricle	heart
32	chr20:11175800-11176400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr20:11175800-11176600	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:11175800-11176600	Enhancers	Fetal Kidney	kidney
35	chr20:11175800-11177000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:11175800-11177200	Enhancers	Right Atrium	heart
37	chr20:11175800-11177600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:11175800-11178000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:11176000-11176200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:11176000-11176400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:11176000-11176600	Weak transcription	Fetal Stomach	stomach
42	chr20:11176000-11177000	Weak transcription	Spleen	Spleen
43	chr20:11176000-11177800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr20:11176200-11176600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:11176200-11176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:11176200-11176600	Weak transcription	Lung	lung
47	chr20:11176200-11177200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr20:11176200-11177200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr20:11176200-11177200	Weak transcription	Right Ventricle	heart
50	chr20:11176200-11177600	Enhancers	Osteobl	bone

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