Variant report

Variant	nsv1057937
Chromosome Location	chr19:27777374-28069337
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	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
3	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
4	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:

Extended variants
information (count: 23531 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:23531 , 50 per page) page: 1 2 3 4 5 6 7 ... 471

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568430574	chr19:27777383-27777384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536070626	chr19:27777393-27777394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117990028	chr19:27777440-27777441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112290333	chr19:27777473-27777474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181012202	chr19:27777492-27777493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572706682	chr19:27777499-27777500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113992012	chr19:27777502-27777503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545760037	chr19:27777514-27777515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558023751	chr19:27777515-27777516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575658082	chr19:27777527-27777528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568604907	chr19:27777540-27777541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189210860	chr19:27777551-27777552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181730870	chr19:27777552-27777553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535674398	chr19:27777553-27777554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186250837	chr19:27777559-27777560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191052864	chr19:27777560-27777561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181491864	chr19:27777570-27777571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533149032	chr19:27777575-27777576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573244348	chr19:27777606-27777607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569953842	chr19:27777610-27777611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531757136	chr19:27777616-27777617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201978156	chr19:27777621-27777622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550173175	chr19:27777622-27777623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557160555	chr19:27777633-27777634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568545690	chr19:27777634-27777635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371361143	chr19:27777636-27777637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143095264	chr19:27777661-27777662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575326502	chr19:27777662-27777663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376634289	chr19:27777672-27777673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535536597	chr19:27777684-27777685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554227620	chr19:27777697-27777698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566186435	chr19:27777699-27777700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539619510	chr19:27777700-27777701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186896434	chr19:27777709-27777710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75543387	chr19:27777720-27777721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75942221	chr19:27777723-27777724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201893705	chr19:27777730-27777731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139482072	chr19:27777734-27777735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75116577	chr19:27777742-27777743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs555014511	chr19:27777744-27777745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530724205	chr19:27777753-27777754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558086182	chr19:27777757-27777758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540817135	chr19:27777773-27777774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185942098	chr19:27777774-27777775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367794957	chr19:27777790-27777791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192030807	chr19:27777804-27777805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559377537	chr19:27777825-27777826	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112697823	chr19:27777838-27777839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75760190	chr19:27777860-27777861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577797123	chr19:27777863-27777864	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:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27768600-27778800	Weak transcription	HSMMtube	muscle
2	chr19:27768600-27782600	Weak transcription	K562	blood
3	chr19:27775600-27777800	Weak transcription	Liver	Liver
4	chr19:27777400-27782600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:27777400-27785200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:27777800-27779000	ZNF genes & repeats	Liver	Liver
7	chr19:27777800-27784600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:27778400-27784400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:27778600-27779400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:27778800-27779000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:27778800-27779000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
12	chr19:27778800-27779000	ZNF genes & repeats	HSMMtube	muscle
13	chr19:27778800-27779200	ZNF genes & repeats	HMEC	breast
14	chr19:27778800-27779200	ZNF genes & repeats	HUVEC	blood vessel
15	chr19:27781600-27781800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr19:27788400-27788800	Weak transcription	HUVEC	blood vessel
17	chr19:27788400-27795200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:27788800-27789200	Active TSS	NHLF	lung
20	chr19:27788800-27789600	ZNF genes & repeats	HUVEC	blood vessel
21	chr19:27788800-27790600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr19:27789000-27795400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:27789600-27789800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr19:27789600-27789800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:27789600-27790000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:27789600-27791600	Weak transcription	HUVEC	blood vessel
28	chr19:27789600-27794200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr19:27790000-27791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:27791600-27791800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:27791600-27791800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:27791600-27791800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:27791600-27791800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:27791600-27791800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
38	chr19:27791600-27791800	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr19:27791600-27791800	ZNF genes & repeats	Liver	Liver
40	chr19:27791600-27791800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr19:27791600-27791800	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr19:27791600-27791800	ZNF genes & repeats	Fetal Brain Male	brain
43	chr19:27791600-27791800	ZNF genes & repeats	Fetal Heart	heart
44	chr19:27791600-27791800	ZNF genes & repeats	Fetal Kidney	kidney
45	chr19:27791600-27791800	ZNF genes & repeats	Fetal Lung	lung
46	chr19:27791600-27791800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr19:27791600-27791800	ZNF genes & repeats	Stomach Mucosa	stomach
48	chr19:27791600-27791800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr19:27791600-27791800	ZNF genes & repeats	HUVEC	blood vessel
50	chr19:27791800-27793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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