Variant report

Variant	nsv960759
Chromosome Location	chr19:35587586-35590800
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35589524..35591254-chr19:35593014..35595078,2	MCF-7	breast:
2	chr19:35581232..35583047-chr19:35586945..35589675,2	MCF-7	breast:
3	chr19:35588896..35592983-chr19:35603946..35607822,9	MCF-7	breast:
4	chr19:35581971..35584009-chr19:35587170..35589088,2	K562	blood:
5	chr19:35576238..35588046-chr19:35602523..35611687,25	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC020907.3-1	chr19:35590109-35590291	ENSG00000227392.1

No data

Variant related genes	Relation type
ENSG00000089356	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191417785	chr19:35587610-35587611	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566782915	chr19:35587613-35587614	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1687996	chr19:35587635-35587636	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548899565	chr19:35587644-35587645	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113699501	chr19:35587681-35587682	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148649935	chr19:35587715-35587716	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79612083	chr19:35587762-35587763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4806080	chr19:35587791-35587792	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1687995	chr19:35587800-35587801	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570623649	chr19:35587815-35587816	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552137608	chr19:35587824-35587825	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529536896	chr19:35587837-35587838	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138552339	chr19:35587842-35587843	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541740355	chr19:35587844-35587845	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555660789	chr19:35587904-35587905	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572142344	chr19:35587914-35587915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541260624	chr19:35587918-35587919	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113961386	chr19:35587940-35587941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58336048	chr19:35587941-35587942	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533062967	chr19:35587945-35587946	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201376439	chr19:35587947-35587948	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563258895	chr19:35587983-35587984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112373441	chr19:35587991-35587992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548599724	chr19:35588037-35588038	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568777368	chr19:35588076-35588077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527843092	chr19:35588164-35588165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28667621	chr19:35588251-35588252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374496244	chr19:35588254-35588255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570586635	chr19:35588258-35588259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12978025	chr19:35588275-35588276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75185597	chr19:35588279-35588280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546260808	chr19:35588283-35588284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61113643	chr19:35588302-35588303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368561622	chr19:35588323-35588324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569691307	chr19:35588340-35588341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2901968	chr19:35588379-35588380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146216175	chr19:35588440-35588441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374171268	chr19:35588441-35588442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572314087	chr19:35588446-35588447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368078094	chr19:35588504-35588505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533241706	chr19:35588536-35588537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140114834	chr19:35588540-35588541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143813112	chr19:35588566-35588567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3061746	chr19:35588581-35588582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376353313	chr19:35588582-35588583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369020959	chr19:35588610-35588611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55939815	chr19:35588611-35588612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577946943	chr19:35588628-35588629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537270568	chr19:35588652-35588653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563422181	chr19:35588653-35588654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35582000-35589800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:35582200-35591600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:35582200-35605600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:35582400-35591600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:35582600-35601600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:35585200-35589000	Weak transcription	Pancreas	Pancrea
7	chr19:35585600-35589600	Weak transcription	Stomach Mucosa	stomach
8	chr19:35586600-35587600	Enhancers	Placenta	Placenta
9	chr19:35586600-35588000	Enhancers	HMEC	breast
10	chr19:35586800-35587600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:35586800-35587600	Enhancers	Brain Cingulate Gyrus	brain
12	chr19:35586800-35587600	Enhancers	Brain Substantia Nigra	brain
13	chr19:35586800-35587600	Enhancers	Fetal Thymus	thymus
14	chr19:35586800-35587600	Flanking Active TSS	NHEK	skin
15	chr19:35586800-35587800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr19:35586800-35588000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:35586800-35588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:35586800-35588000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:35586800-35588000	Enhancers	Esophagus	oesophagus
20	chr19:35587000-35587600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:35587000-35587600	Enhancers	Brain Angular Gyrus	brain
22	chr19:35587000-35587600	Genic enhancers	Brain Hippocampus Middle	brain
23	chr19:35587200-35587600	Bivalent Enhancer	HepG2	liver
24	chr19:35587200-35589800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:35587200-35596200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:35587400-35587600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr19:35587400-35588000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:35587400-35589600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:35587600-35588200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr19:35587600-35588200	Enhancers	NHEK	skin
31	chr19:35587600-35589400	Weak transcription	Brain Angular Gyrus	brain
32	chr19:35587600-35589400	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:35587600-35589400	Weak transcription	Brain Substantia Nigra	brain
34	chr19:35587600-35590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr19:35587600-35596400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:35587800-35589600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:35588000-35589000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:35588000-35589000	Weak transcription	HMEC	breast
39	chr19:35588000-35589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:35588000-35589400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:35588000-35589600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:35588000-35589600	Weak transcription	Esophagus	oesophagus
43	chr19:35588200-35588600	Weak transcription	NHEK	skin
44	chr19:35588200-35589200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:35588600-35589200	Enhancers	NHEK	skin
46	chr19:35589000-35589400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:35589000-35590200	Enhancers	HMEC	breast
48	chr19:35589000-35591000	Enhancers	Pancreas	Pancrea
49	chr19:35589200-35589400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:35589200-35590000	Flanking Active TSS	NHEK	skin

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