Variant report

Variant	nsv911508
Chromosome Location	chr19:27763440-28125638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 27859 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:27859 , 50 per page) page: 1 2 3 4 5 6 7 ... 558

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12981140	chr19:27763440-27763441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs12981142	chr19:27763441-27763442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368423555	chr19:27763445-27763446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371799572	chr19:27763451-27763452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202080660	chr19:27763478-27763479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200359768	chr19:27763480-27763481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185728011	chr19:27763486-27763487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190039270	chr19:27763494-27763495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139368209	chr19:27763496-27763497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537940767	chr19:27763508-27763509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372139549	chr19:27763527-27763528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568642275	chr19:27763566-27763567	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534753896	chr19:27763572-27763573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536172493	chr19:27763577-27763578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375165652	chr19:27763579-27763580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566238774	chr19:27763594-27763595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367771321	chr19:27763601-27763602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539459444	chr19:27763613-27763614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557453728	chr19:27763621-27763622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201028323	chr19:27763662-27763663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565880930	chr19:27763672-27763673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs576115052	chr19:27763674-27763675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543121225	chr19:27763715-27763716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555155490	chr19:27763717-27763718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144173748	chr19:27763733-27763734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs540928078	chr19:27763761-27763762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs151242033	chr19:27763765-27763766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140463757	chr19:27763771-27763772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs546215949	chr19:27763772-27763773	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs180832012	chr19:27763773-27763774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369829047	chr19:27763781-27763782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201130082	chr19:27763816-27763817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373284484	chr19:27763828-27763829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550265023	chr19:27763837-27763838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568681135	chr19:27763838-27763839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529463331	chr19:27763839-27763840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199580039	chr19:27763843-27763844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547999958	chr19:27763852-27763853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186213701	chr19:27763856-27763857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539723159	chr19:27763860-27763861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200638768	chr19:27763876-27763877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191885861	chr19:27763877-27763878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs569513495	chr19:27763893-27763894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs536757412	chr19:27763927-27763928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574478207	chr19:27763944-27763945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554994661	chr19:27763948-27763949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537373789	chr19:27763951-27763952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556640829	chr19:27763952-27763953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574377047	chr19:27763957-27763958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540869152	chr19:27763961-27763962	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:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27760800-27764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:27760800-27764400	Weak transcription	NH-A	brain
3	chr19:27762400-27771200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:27763200-27764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:27763200-27764400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:27763200-27764400	Weak transcription	Adipose Nuclei	Adipose
7	chr19:27763200-27764400	Weak transcription	Brain Anterior Caudate	brain
8	chr19:27763200-27764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:27763200-27764400	Weak transcription	Fetal Brain Male	brain
10	chr19:27763200-27764400	Weak transcription	GM12878-XiMat	blood
11	chr19:27763200-27764400	Weak transcription	HUVEC	blood vessel
12	chr19:27763400-27764400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:27763400-27764400	Weak transcription	Liver	Liver
14	chr19:27763400-27764400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:27763400-27764400	Weak transcription	NHLF	lung
16	chr19:27764000-27764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:27764200-27767800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:27764400-27764600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:27764400-27764600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
20	chr19:27764400-27764600	Flanking Active TSS	Aorta	Aorta
21	chr19:27764400-27764600	ZNF genes & repeats	Fetal Lung	lung
22	chr19:27764400-27764800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr19:27764400-27764800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr19:27764400-27764800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr19:27764400-27764800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:27764400-27764800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:27764400-27764800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:27764400-27764800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:27764400-27764800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr19:27764400-27764800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr19:27764400-27764800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:27764400-27764800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:27764400-27764800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:27764400-27764800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:27764400-27764800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
37	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:27764400-27764800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr19:27764400-27764800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:27764400-27764800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:27764400-27764800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr19:27764400-27764800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:27764400-27764800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:27764400-27764800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr19:27764400-27764800	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:27764400-27764800	ZNF genes & repeats	Brain Angular Gyrus	brain
50	chr19:27764400-27764800	ZNF genes & repeats	Brain Anterior Caudate	brain

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