Variant report

Variant	nsv1062502
Chromosome Location	chr19:27828574-28081375
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	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
2	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:

Extended variants
information (count: 18181 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:18181 , 50 per page) page: 1 2 3 4 5 6 7 ... 364

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370532728	chr19:27828579-27828580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184452890	chr19:27828641-27828642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532226593	chr19:27828642-27828643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374767024	chr19:27828651-27828652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547988623	chr19:27828653-27828654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2198978	chr19:27828664-27828665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs568942580	chr19:27828694-27828695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149348438	chr19:27828696-27828697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548075265	chr19:27828709-27828710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374423515	chr19:27828740-27828741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371620310	chr19:27828746-27828747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367555681	chr19:27828754-27828755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371534518	chr19:27828769-27828770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374734348	chr19:27828772-27828773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567325006	chr19:27828776-27828777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79222688	chr19:27828779-27828780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75151643	chr19:27828785-27828786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74930604	chr19:27828786-27828787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78613918	chr19:27828790-27828791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77680666	chr19:27828796-27828797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368626181	chr19:27828800-27828801	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77590124	chr19:27828815-27828816	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372026117	chr19:27828817-27828818	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553072259	chr19:27828820-27828821	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375092610	chr19:27828824-27828825	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368950542	chr19:27828827-27828828	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78261013	chr19:27828829-27828830	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74826012	chr19:27828830-27828831	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368093459	chr19:27828831-27828832	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373010509	chr19:27828832-27828833	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371563898	chr19:27828834-27828835	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571742116	chr19:27828842-27828843	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538742263	chr19:27828849-27828850	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78779704	chr19:27828850-27828851	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78167895	chr19:27828851-27828852	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375870921	chr19:27828854-27828855	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375035622	chr19:27828858-27828859	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369102706	chr19:27828863-27828864	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376623032	chr19:27828865-27828866	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373055397	chr19:27828877-27828878	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs377279931	chr19:27828878-27828879	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369874043	chr19:27828882-27828883	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374198182	chr19:27828883-27828884	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113309687	chr19:27828902-27828903	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200353630	chr19:27828903-27828904	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575747755	chr19:27828905-27828906	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370765179	chr19:27828910-27828911	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372753009	chr19:27828916-27828917	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555263374	chr19:27828926-27828927	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377163476	chr19:27828929-27828930	ZNF genes & repeats Active TSS	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27821400-27831200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:27821800-27843200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr19:27822600-27862000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:27825200-27828800	Weak transcription	Aorta	Aorta
5	chr19:27825200-27828800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:27827400-27862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:27828400-27831600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr19:27828800-27831000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
9	chr19:27828800-27831600	Active TSS	Aorta	Aorta
10	chr19:27829200-27829600	ZNF genes & repeats	Fetal Brain Male	brain
11	chr19:27829800-27830600	ZNF genes & repeats	Liver	Liver
12	chr19:27829800-27831600	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr19:27831600-27832800	Weak transcription	Aorta	Aorta
14	chr19:27832600-27862000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:27832800-27833200	Active TSS	Aorta	Aorta
16	chr19:27832800-27834400	ZNF genes & repeats	Liver	Liver
17	chr19:27833000-27833400	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr19:27833000-27833400	Active TSS	Right Atrium	heart
19	chr19:27833200-27837000	Weak transcription	Aorta	Aorta
20	chr19:27836800-27837400	ZNF genes & repeats	Liver	Liver
21	chr19:27836800-27837400	ZNF genes & repeats	Dnd41	blood
22	chr19:27837000-27837200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr19:27837000-27837200	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr19:27837000-27837400	Enhancers	Aorta	Aorta
25	chr19:27837400-27840400	Weak transcription	Aorta	Aorta
26	chr19:27838600-27842600	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:27838600-27859800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr19:27838800-27852000	ZNF genes & repeats	Liver	Liver
29	chr19:27838800-27852600	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:27839600-27842600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:27839800-27840600	Active TSS	Right Atrium	heart
32	chr19:27840400-27840600	Active TSS	Aorta	Aorta
33	chr19:27840600-27841000	Weak transcription	Aorta	Aorta
34	chr19:27840600-27842000	Weak transcription	Right Atrium	heart
35	chr19:27841000-27841200	Active TSS	Aorta	Aorta
36	chr19:27841200-27842200	Weak transcription	Aorta	Aorta
37	chr19:27841400-27854200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:27841600-27846400	ZNF genes & repeats	Psoas Muscle	Psoas
39	chr19:27841600-27852800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr19:27841800-27842600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:27841800-27842600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr19:27842000-27842400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr19:27842000-27842400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr19:27842000-27842400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:27842000-27842400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr19:27842000-27842400	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr19:27842000-27842400	Active TSS	Right Atrium	heart
50	chr19:27842000-27842600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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