Variant report

Variant	nsv960836
Chromosome Location	chr19:38355208-38370306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38359287..38362108-chr19:38365312..38367843,2	MCF-7	breast:
2	chr19:38359287..38362108-chr19:38365312..38367843,2	MCF-7	breast:

Extended variants
information (count: 521 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4802137	chr19:38355209-38355210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532272728	chr19:38355316-38355317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540420339	chr19:38355399-38355400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546582195	chr19:38355404-38355405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550829759	chr19:38355424-38355425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76651359	chr19:38355469-38355470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535532242	chr19:38355486-38355487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182601798	chr19:38355490-38355491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144513667	chr19:38355513-38355514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537209972	chr19:38355526-38355527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8103882	chr19:38355546-38355547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577063534	chr19:38355568-38355569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541007188	chr19:38355579-38355580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536028506	chr19:38355669-38355670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552983443	chr19:38355692-38355693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17249138	chr19:38355880-38355881	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs541862337	chr19:38355973-38355974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186726987	chr19:38355979-38355980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372410110	chr19:38355987-38355988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530527208	chr19:38356097-38356098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546377523	chr19:38356101-38356102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374246394	chr19:38356115-38356116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564567075	chr19:38356130-38356131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148002328	chr19:38356160-38356161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546915153	chr19:38356168-38356169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12972327	chr19:38356193-38356194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200919163	chr19:38356194-38356195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201322434	chr19:38356197-38356198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62110231	chr19:38356201-38356202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200741307	chr19:38356209-38356210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568434272	chr19:38356211-38356212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113336395	chr19:38356217-38356218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528238814	chr19:38356231-38356232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535468573	chr19:38356234-38356235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58941434	chr19:38356235-38356236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529213406	chr19:38356242-38356243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116859996	chr19:38356253-38356254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569287968	chr19:38356263-38356264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539594794	chr19:38356317-38356318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141548395	chr19:38356320-38356321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117332891	chr19:38356389-38356390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55936382	chr19:38356395-38356396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534836451	chr19:38356403-38356404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553271211	chr19:38356427-38356428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147508645	chr19:38356446-38356447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140190111	chr19:38356493-38356494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558642132	chr19:38356504-38356505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577150515	chr19:38356518-38356519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28368541	chr19:38356566-38356567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544609037	chr19:38356604-38356605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38347400-38356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:38347400-38358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:38350600-38356800	Enhancers	Fetal Brain Male	brain
4	chr19:38353600-38355400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:38353600-38355600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38353600-38355800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:38355200-38356800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr19:38355200-38359000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr19:38355400-38356200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr19:38355400-38356200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr19:38355400-38356800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:38355600-38356200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr19:38355600-38356800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr19:38355600-38356800	Enhancers	NHEK	skin
15	chr19:38355600-38357200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr19:38355800-38356000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr19:38355800-38356800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr19:38356000-38356600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:38356000-38356800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:38356200-38356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:38356200-38357800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:38356200-38365600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:38356400-38356800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:38356600-38356800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr19:38356600-38356800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:38356600-38356800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:38356800-38357800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr19:38356800-38357800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:38356800-38357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:38356800-38357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:38356800-38357800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:38356800-38357800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:38356800-38357800	Weak transcription	NHEK	skin
34	chr19:38356800-38358000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:38356800-38365600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:38357200-38357600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:38357600-38358800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr19:38357800-38358000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr19:38357800-38358000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr19:38357800-38358200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr19:38357800-38358200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr19:38357800-38358200	Flanking Active TSS	NHEK	skin
43	chr19:38357800-38358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:38357800-38359200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr19:38357800-38359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:38358000-38358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:38358000-38359000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:38358200-38358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:38358200-38358600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr19:38358200-38359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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