Variant report

Variant	nsv528643
Chromosome Location	chr19:21796943-21798441
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	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF429-2	chr19:21797286-21797405	XLOC_013007

Extended variants
information (count: 160 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7252706	chr19:21796943-21796944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554369766	chr19:21796951-21796952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538138416	chr19:21796961-21796962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556221659	chr19:21796990-21796991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567807629	chr19:21796996-21796997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574686177	chr19:21797005-21797006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535435006	chr19:21797011-21797012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112251522	chr19:21797024-21797025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572537090	chr19:21797040-21797041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546348032	chr19:21797094-21797095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527445603	chr19:21797095-21797096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564668575	chr19:21797125-21797126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374938737	chr19:21797138-21797139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7252080	chr19:21797141-21797142	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs7252081	chr19:21797142-21797143	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs535546679	chr19:21797146-21797147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541429798	chr19:21797160-21797161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12462147	chr19:21797161-21797162	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs527361784	chr19:21797165-21797166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569205707	chr19:21797166-21797167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374831784	chr19:21797171-21797172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180882235	chr19:21797174-21797175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531364650	chr19:21797189-21797190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549951075	chr19:21797217-21797218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568234703	chr19:21797218-21797219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371366184	chr19:21797221-21797222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554187233	chr19:21797228-21797229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566127987	chr19:21797233-21797234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79462384	chr19:21797238-21797239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374616461	chr19:21797239-21797240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7252205	chr19:21797242-21797243	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs374294275	chr19:21797246-21797247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543628937	chr19:21797250-21797251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7252104	chr19:21797251-21797252	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs574237801	chr19:21797252-21797253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75963028	chr19:21797265-21797266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562027241	chr19:21797269-21797270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79478910	chr19:21797283-21797284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541735326	chr19:21797295-21797296	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs77892233	chr19:21797312-21797313	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559712237	chr19:21797320-21797321	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs370951559	chr19:21797321-21797322	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs71333832	chr19:21797328-21797329	ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs74888261	chr19:21797332-21797333	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs34652074	chr19:21797362-21797363	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs574315665	chr19:21797365-21797366	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs531457246	chr19:21797375-21797376	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs34584079	chr19:21797380-21797381	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs77672415	chr19:21797383-21797384	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs542724809	chr19:21797386-21797387	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21789000-21797000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:21796000-21800600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:21796800-21800000	Weak transcription	Dnd41	blood
4	chr19:21797000-21797400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:21797400-21798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21798200-21799200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:21798200-21799200	Active TSS	HUVEC	blood vessel
8	chr19:21798200-21800400	Weak transcription	K562	blood
9	chr19:21798400-21799200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:21798400-21799200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:21798400-21799200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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