Variant report

Variant	nsv978748
Chromosome Location	chr19:28704456-28706966
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	chr19:28703800..28705380-chr19:28705878..28708794,2	K562	blood:
2	chr19:28703800..28705380-chr19:28705878..28708794,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553227795	chr19:28704478-28704479	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5827591	chr19:28704511-28704512	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375813553	chr19:28704516-28704517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146760576	chr19:28704526-28704527	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1820704	chr19:28704540-28704541	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369081189	chr19:28704542-28704543	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192261057	chr19:28704559-28704560	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140379353	chr19:28704567-28704568	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573023560	chr19:28704593-28704594	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145535316	chr19:28704596-28704597	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565491691	chr19:28704654-28704655	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184100627	chr19:28704663-28704664	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138738766	chr19:28704691-28704692	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148925836	chr19:28704695-28704696	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143734128	chr19:28704698-28704699	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548296743	chr19:28704704-28704705	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76506609	chr19:28704710-28704711	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534043143	chr19:28704753-28704754	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148103508	chr19:28704758-28704759	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578030883	chr19:28704816-28704817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570292979	chr19:28704834-28704835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187313914	chr19:28704848-28704849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541680891	chr19:28704897-28704898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370230390	chr19:28704902-28704903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112414698	chr19:28704915-28704916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374982243	chr19:28704917-28704918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574692055	chr19:28704918-28704919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144012617	chr19:28704952-28704953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200534940	chr19:28704982-28704983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553496271	chr19:28705021-28705022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10420997	chr19:28705080-28705081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191411442	chr19:28705081-28705082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564196754	chr19:28705102-28705103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553892485	chr19:28705126-28705127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146710800	chr19:28705189-28705190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535412624	chr19:28705245-28705246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555503503	chr19:28705254-28705255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184358177	chr19:28705258-28705259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563192172	chr19:28705266-28705267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13344083	chr19:28705280-28705281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548530691	chr19:28705304-28705305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374879900	chr19:28705362-28705363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558070343	chr19:28705416-28705417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527708274	chr19:28705449-28705450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552239411	chr19:28705512-28705513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190472435	chr19:28705520-28705521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369262810	chr19:28705523-28705524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537648324	chr19:28705538-28705539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549714983	chr19:28705562-28705563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542680691	chr19:28705571-28705572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Cervical cancer	21063398	CNVD
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	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
Gastric cancer	16575401	CNVD
Ovarian cancer	19193619	CNVD
Medulloblastoma	19270706	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28699400-28704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:28704400-28704600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:28704400-28704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:28704600-28704800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:28704600-28704800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:28704600-28712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:28705400-28706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:28705600-28705800	Enhancers	Fetal Lung	lung
9	chr19:28705600-28706000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:28705800-28706000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:28705800-28706000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:28705800-28706000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr19:28705800-28707200	Weak transcription	Fetal Lung	lung
14	chr19:28706000-28707400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:28706000-28707600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:28706000-28707800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:28706000-28708400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr19:28706600-28716600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:28706800-28708600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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