Variant report

Variant	nsv2489
Chromosome Location	chr19:41145034-41182170
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:69)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:41167287..41169951-chr19:41180209..41183939,4	K562	blood:
2	chr19:41170975..41174075-chr19:41207359..41209061,3	K562	blood:
3	chr19:41168879..41172340-chr19:41281648..41285076,4	K562	blood:
4	chr19:41118206..41119758-chr19:41144770..41146283,2	K562	blood:
5	chr19:41181865..41184413-chr19:41196579..41198472,3	K562	blood:
6	chr19:41169408..41172450-chr19:41308239..41311343,3	MCF-7	breast:
7	chr19:41167265..41169750-chr19:41244881..41246475,2	K562	blood:
8	chr19:41168344..41169236-chr19:41303602..41304477,3	K562	blood:
9	chr19:41161679..41164682-chr19:41165107..41169222,4	K562	blood:
10	chr19:41173668..41175905-chr19:41178921..41181635,2	K562	blood:
11	chr19:41167287..41169951-chr19:41180209..41183939,4	K562	blood:
12	chr19:41168379..41168947-chr19:41650043..41650891,2	MCF-7	breast:
13	chr19:41171166..41174388-chr19:41302403..41306286,4	K562	blood:
14	chr19:41167374..41169266-chr19:41303175..41305652,3	MCF-7	breast:
15	chr19:41167276..41170716-chr19:41255553..41260607,5	K562	blood:
16	chr19:41168190..41170957-chr19:41311771..41313927,2	MCF-7	breast:
17	chr19:41168465..41169261-chr19:41208526..41209044,2	MCF-7	breast:
18	chr19:41171985..41176323-chr19:41183438..41185742,3	MCF-7	breast:
19	chr19:41171645..41173903-chr19:41256454..41259241,2	K562	blood:
20	chr19:41145219..41147338-chr19:41149537..41152318,2	MCF-7	breast:
21	chr19:41167522..41169643-chr19:41327340..41330313,2	K562	blood:
22	chr19:41167418..41169032-chr19:41313685..41315602,2	MCF-7	breast:
23	chr19:41075641..41077169-chr19:41168899..41171390,2	K562	blood:
24	chr19:41158714..41160657-chr19:41165168..41167753,2	K562	blood:
25	chr19:41120433..41122395-chr19:41149709..41152254,3	MCF-7	breast:
26	chr19:41168010..41170261-chr19:41227028..41229783,2	MCF-7	breast:
27	chr19:41171413..41174088-chr19:41312213..41313806,2	MCF-7	breast:
28	chr19:41168297..41169269-chr19:41312417..41313701,5	K562	blood:
29	chr19:41166820..41170120-chr19:41221252..41223641,4	MCF-7	breast:
30	chr19:41120316..41124225-chr19:41147891..41152450,4	K562	blood:
31	chr19:41035096..41035993-chr19:41168472..41169257,2	K562	blood:
32	chr19:41167604..41169256-chr19:41246232..41247999,2	MCF-7	breast:
33	chr19:41166318..41173902-chr19:41219711..41223853,11	K562	blood:
34	chr19:41167412..41170593-chr19:41311083..41314714,4	K562	blood:
35	chr19:41109313..41109956-chr19:41168644..41169356,2	K562	blood:
36	chr19:41158714..41160657-chr19:41165168..41167753,2	K562	blood:
37	chr19:41161679..41164682-chr19:41165107..41169222,4	K562	blood:
38	chr19:41169093..41170833-chr19:41311173..41313608,2	K562	blood:
39	chr19:41138506..41141309-chr19:41145835..41148542,2	K562	blood:
40	chr19:41168390..41169254-chr19:41313514..41314116,2	MCF-7	breast:
41	chr19:41167372..41175149-chr19:41187518..41198541,22	K562	blood:
42	chr19:41145219..41147338-chr19:41149537..41152318,2	MCF-7	breast:
43	chr19:41168873..41171001-chr19:41337568..41339858,2	MCF-7	breast:
44	chr19:41167397..41170684-chr19:41303413..41305834,3	K562	blood:
45	chr19:41143757..41146544-chr19:41221268..41224406,3	K562	blood:
46	chr19:41172247..41174335-chr19:41222503..41224165,2	MCF-7	breast:
47	chr19:41167063..41169024-chr19:41256743..41258635,2	MCF-7	breast:
48	chr19:41171300..41174250-chr19:41255896..41258297,2	MCF-7	breast:
49	chr19:41145014..41147599-chr19:41198160..41200878,2	K562	blood:
50	chr19:41167978..41171618-chr19:41220706..41223395,4	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NUMBL	hsa-miR-122-5p	chr19:41173055-41173078

Variant related genes	Relation type
ENSG00000086544	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000090006	chromatin interactions
ENSG00000167578	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000261857	chromatin interactions
ENSG00000160460	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000233622	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000188493	chromatin interactions

Extended variants
information (count: 1355 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542791661	chr19:41145052-41145053	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs555037633	chr19:41145057-41145058	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs576406721	chr19:41145104-41145105	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs141298893	chr19:41145261-41145262	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs74745430	chr19:41145304-41145305	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs150810593	chr19:41145323-41145324	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs541723133	chr19:41145330-41145331	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs374594087	chr19:41145355-41145356	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs370894934	chr19:41145367-41145368	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs550524709	chr19:41145380-41145381	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs375579862	chr19:41145385-41145386	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs368612466	chr19:41145394-41145395	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs10406476	chr19:41145395-41145396	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548024765	chr19:41145439-41145440	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs370507876	chr19:41145487-41145488	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs569684026	chr19:41145510-41145511	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs530432554	chr19:41145525-41145526	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs552114925	chr19:41145526-41145527	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs570437483	chr19:41145536-41145537	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs534632131	chr19:41145538-41145539	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs546477982	chr19:41145542-41145543	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs567957870	chr19:41145543-41145544	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs117413943	chr19:41145552-41145553	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs139298473	chr19:41145628-41145629	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs576442432	chr19:41145660-41145661	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs7249663	chr19:41145662-41145663	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs74909577	chr19:41145701-41145702	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs577293844	chr19:41145705-41145706	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541786666	chr19:41145731-41145732	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs79271458	chr19:41145734-41145735	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs139967007	chr19:41145791-41145792	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs113735679	chr19:41145836-41145837	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs144116598	chr19:41145877-41145878	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs542365745	chr19:41145889-41145890	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs145963521	chr19:41145897-41145898	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs186509601	chr19:41145902-41145903	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs139851391	chr19:41145905-41145906	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs563776371	chr19:41145985-41145986	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs555237290	chr19:41145992-41145993	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs566762752	chr19:41146025-41146026	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs368152520	chr19:41146056-41146057	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs114208666	chr19:41146085-41146086	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs567968133	chr19:41146128-41146129	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs143283252	chr19:41146134-41146135	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs550717080	chr19:41146189-41146190	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs568936420	chr19:41146212-41146213	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs145438701	chr19:41146215-41146216	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs191351192	chr19:41146274-41146275	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs79237337	chr19:41146292-41146293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs534966936	chr19:41146322-41146323	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41136000-41145600	Weak transcription	Ovary	ovary
2	chr19:41137200-41145400	Weak transcription	Right Ventricle	heart
3	chr19:41140400-41145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:41140400-41145400	Weak transcription	Fetal Stomach	stomach
5	chr19:41140400-41146400	Weak transcription	Aorta	Aorta
6	chr19:41140600-41145200	Weak transcription	K562	blood
7	chr19:41140600-41145600	Weak transcription	NH-A	brain
8	chr19:41140600-41146000	Weak transcription	Spleen	Spleen
9	chr19:41140600-41146200	Weak transcription	Adipose Nuclei	Adipose
10	chr19:41140600-41146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:41140800-41146200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:41140800-41152600	Weak transcription	Right Atrium	heart
13	chr19:41141800-41146600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:41143600-41145400	Weak transcription	Lung	lung
15	chr19:41144000-41146200	Weak transcription	Osteobl	bone
16	chr19:41144600-41145200	Enhancers	Fetal Lung	lung
17	chr19:41145000-41145200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr19:41145000-41146600	Enhancers	A549	lung
19	chr19:41145000-41147600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:41145000-41147600	Enhancers	NHLF	lung
21	chr19:41145200-41145400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:41145200-41145400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:41145200-41145800	Weak transcription	Fetal Lung	lung
24	chr19:41145200-41146200	Enhancers	K562	blood
25	chr19:41145200-41146400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:41145400-41145600	Enhancers	Lung	lung
27	chr19:41145400-41145600	Enhancers	Right Ventricle	heart
28	chr19:41145400-41146000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:41145400-41146400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:41145400-41147400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:41145400-41148200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
33	chr19:41145600-41146000	Weak transcription	Right Ventricle	heart
34	chr19:41145600-41146400	Weak transcription	Lung	lung
35	chr19:41145600-41147400	Enhancers	NH-A	brain
36	chr19:41145600-41147600	Enhancers	Ovary	ovary
37	chr19:41145800-41148000	Enhancers	Fetal Lung	lung
38	chr19:41145800-41149000	Enhancers	Fetal Muscle Trunk	muscle
39	chr19:41146000-41146800	Enhancers	Right Ventricle	heart
40	chr19:41146000-41146800	Enhancers	Stomach Smooth Muscle	stomach
41	chr19:41146000-41146800	Enhancers	Spleen	Spleen
42	chr19:41146000-41147000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:41146000-41147000	Enhancers	Fetal Heart	heart
44	chr19:41146200-41146400	Enhancers	Osteobl	bone
45	chr19:41146200-41146600	Enhancers	Colon Smooth Muscle	Colon
46	chr19:41146200-41146800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:41146200-41146800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:41146200-41146800	Enhancers	Colonic Mucosa	Colon
49	chr19:41146200-41146800	Enhancers	Fetal Intestine Small	intestine
50	chr19:41146200-41146800	Flanking Active TSS	K562	blood

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