Variant report

Variant	nsv1065836
Chromosome Location	chr19:27751663-28041818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
2	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
3	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
4	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:

Extended variants
information (count: 25424 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:25424 , 50 per page) page: 1 2 3 4 5 6 7 ... 509

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562784838	chr19:27751678-27751679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192850861	chr19:27751700-27751701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542134182	chr19:27751701-27751702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113216447	chr19:27751721-27751722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568258027	chr19:27751724-27751725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561295841	chr19:27751762-27751763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528460526	chr19:27751779-27751780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138806676	chr19:27751781-27751782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113535539	chr19:27751787-27751788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376770228	chr19:27751788-27751789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532599657	chr19:27751789-27751790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550810219	chr19:27751795-27751796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564033192	chr19:27751804-27751805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146988237	chr19:27751810-27751811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570642096	chr19:27751815-27751816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548449720	chr19:27751831-27751832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs8187048	chr19:27751832-27751833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117853802	chr19:27751844-27751845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560421498	chr19:27751863-27751864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533746279	chr19:27751868-27751869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552647245	chr19:27751874-27751875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112876144	chr19:27751881-27751882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558377570	chr19:27751882-27751883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs59469221	chr19:27751883-27751884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184819241	chr19:27751885-27751886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs377566301	chr19:27751935-27751936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112559844	chr19:27751939-27751940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572885271	chr19:27751949-27751950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556436299	chr19:27751965-27751966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111456668	chr19:27751972-27751973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112157843	chr19:27751980-27751981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112901556	chr19:27751986-27751987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200037525	chr19:27752020-27752021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11666277	chr19:27752023-27752024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369897758	chr19:27752025-27752026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200832953	chr19:27752037-27752038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201977114	chr19:27752042-27752043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200635408	chr19:27752049-27752050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201498987	chr19:27752050-27752051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560456249	chr19:27752052-27752053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs202211750	chr19:27752053-27752054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573168287	chr19:27752069-27752070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540574152	chr19:27752081-27752082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373296478	chr19:27752085-27752086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113419318	chr19:27752090-27752091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369389256	chr19:27752113-27752114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145940963	chr19:27752139-27752140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs62134436	chr19:27752157-27752158	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200358655	chr19:27752173-27752174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201238824	chr19:27752176-27752177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	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

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27740800-27755200	Weak transcription	K562	blood
2	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:27749800-27756600	Weak transcription	NH-A	brain
7	chr19:27750000-27752200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:27750600-27752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:27750600-27752800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:27750600-27753400	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:27750800-27752400	Weak transcription	Liver	Liver
12	chr19:27750800-27752600	Weak transcription	Psoas Muscle	Psoas
13	chr19:27752200-27753000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:27752600-27753200	ZNF genes & repeats	Liver	Liver
15	chr19:27752800-27753400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
16	chr19:27752800-27753600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:27752800-27757000	ZNF genes & repeats	HUVEC	blood vessel
18	chr19:27753000-27753200	ZNF genes & repeats	Fetal Heart	heart
19	chr19:27753200-27753400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr19:27753400-27754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:27753600-27754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:27754400-27754800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:27754800-27755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:27755200-27755400	ZNF genes & repeats	K562	blood
25	chr19:27755400-27757000	Weak transcription	K562	blood
26	chr19:27755600-27758000	ZNF genes & repeats	HepG2	liver
27	chr19:27755800-27756200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:27755800-27757600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:27756000-27757600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr19:27756200-27757200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:27756400-27757000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:27756600-27757000	ZNF genes & repeats	NH-A	brain
33	chr19:27756600-27757600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr19:27756800-27758200	ZNF genes & repeats	Dnd41	blood
35	chr19:27757000-27758000	Weak transcription	NH-A	brain
36	chr19:27758000-27758200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:27758000-27758200	ZNF genes & repeats	NH-A	brain
38	chr19:27758200-27760400	Weak transcription	NH-A	brain
39	chr19:27759600-27760800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:27760200-27760800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:27760200-27761000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr19:27760400-27760800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:27760400-27760800	ZNF genes & repeats	HUVEC	blood vessel
44	chr19:27760400-27760800	ZNF genes & repeats	NH-A	brain
45	chr19:27760600-27760800	ZNF genes & repeats	GM12878-XiMat	blood
46	chr19:27760600-27760800	ZNF genes & repeats	HepG2	liver
47	chr19:27760800-27762800	Weak transcription	GM12878-XiMat	blood
48	chr19:27760800-27764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:27760800-27764400	Weak transcription	NH-A	brain
50	chr19:27761000-27762400	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links