Variant report

Variant	nsv911530
Chromosome Location	chr19:27835063-28125638
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	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
2	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:

Extended variants
information (count: 19256 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:19256 , 50 per page) page: 1 2 3 4 5 6 7 ... 386

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7339490	chr19:27835063-27835064	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574317118	chr19:27835064-27835065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111507271	chr19:27835076-27835077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540368651	chr19:27835088-27835089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367988575	chr19:27835092-27835093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560669648	chr19:27835126-27835127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577527420	chr19:27835141-27835142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545140917	chr19:27835159-27835160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563345600	chr19:27835172-27835173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530605928	chr19:27835191-27835192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75183158	chr19:27835195-27835196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs370880596	chr19:27835196-27835197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200201026	chr19:27835203-27835204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546536187	chr19:27835218-27835219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566078766	chr19:27835245-27835246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564318534	chr19:27835269-27835270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112447823	chr19:27835271-27835272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555103331	chr19:27835274-27835275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112434643	chr19:27835275-27835276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569852707	chr19:27835305-27835306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537141351	chr19:27835311-27835312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555590112	chr19:27835324-27835325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191325514	chr19:27835328-27835329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182751198	chr19:27835334-27835335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553357083	chr19:27835335-27835336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372785901	chr19:27835336-27835337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577588507	chr19:27835337-27835338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377340779	chr19:27835339-27835340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545056025	chr19:27835360-27835361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185399683	chr19:27835390-27835391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575456084	chr19:27835404-27835405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139795782	chr19:27835405-27835406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368417589	chr19:27835418-27835419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376976400	chr19:27835426-27835427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74534546	chr19:27835452-27835453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146206567	chr19:27835454-27835455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546893654	chr19:27835456-27835457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528460302	chr19:27835484-27835485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529227880	chr19:27835489-27835490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201109431	chr19:27835507-27835508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190898661	chr19:27835511-27835512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139250481	chr19:27835523-27835524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142567806	chr19:27835524-27835525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs112934285	chr19:27835527-27835528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74926298	chr19:27835528-27835529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75550890	chr19:27835529-27835530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139580441	chr19:27835543-27835544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567864841	chr19:27835546-27835547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183377881	chr19:27835551-27835552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553511078	chr19:27835577-27835578	ZNF genes & repeats Weak transcription	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:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27821800-27843200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr19:27822600-27862000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:27827400-27862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:27832600-27862000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr19:27833200-27837000	Weak transcription	Aorta	Aorta
6	chr19:27836800-27837400	ZNF genes & repeats	Liver	Liver
7	chr19:27836800-27837400	ZNF genes & repeats	Dnd41	blood
8	chr19:27837000-27837200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
9	chr19:27837000-27837200	ZNF genes & repeats	Brain Hippocampus Middle	brain
10	chr19:27837000-27837400	Enhancers	Aorta	Aorta
11	chr19:27837400-27840400	Weak transcription	Aorta	Aorta
12	chr19:27838600-27842600	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr19:27838600-27859800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr19:27838800-27852000	ZNF genes & repeats	Liver	Liver
15	chr19:27838800-27852600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:27839600-27842600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:27839800-27840600	Active TSS	Right Atrium	heart
18	chr19:27840400-27840600	Active TSS	Aorta	Aorta
19	chr19:27840600-27841000	Weak transcription	Aorta	Aorta
20	chr19:27840600-27842000	Weak transcription	Right Atrium	heart
21	chr19:27841000-27841200	Active TSS	Aorta	Aorta
22	chr19:27841200-27842200	Weak transcription	Aorta	Aorta
23	chr19:27841400-27854200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:27841600-27846400	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr19:27841600-27852800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:27841800-27842600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:27841800-27842600	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr19:27842000-27842400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr19:27842000-27842400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:27842000-27842400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr19:27842000-27842400	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:27842000-27842400	Active TSS	Right Atrium	heart
36	chr19:27842000-27842600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:27842000-27842600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:27842000-27842600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:27842000-27842600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr19:27842200-27842400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:27842200-27842400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr19:27842200-27842400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:27842200-27842400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr19:27842200-27842400	Enhancers	Aorta	Aorta
45	chr19:27842200-27842400	ZNF genes & repeats	Colonic Mucosa	Colon
46	chr19:27842200-27842400	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr19:27842200-27842400	ZNF genes & repeats	Small Intestine	intestine
48	chr19:27842200-27842400	ZNF genes & repeats	HepG2	liver
49	chr19:27842200-27842400	ZNF genes & repeats	NH-A	brain
50	chr19:27842400-27844200	Weak transcription	Aorta	Aorta

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