Variant report

Variant	nsv578948
Chromosome Location	chr19:21052924-21094854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:
2	chr19:21086946..21088802-chr19:21210415..21213328,2	MCF-7	breast:
3	chr19:21051172..21052986-chr19:21053944..21056414,2	MCF-7	breast:

Extended variants
information (count: 1921 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1921 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1465430	chr19:21052924-21052925	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116874819	chr19:21052940-21052941	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1465429	chr19:21052944-21052945	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs150694153	chr19:21052980-21052981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375025011	chr19:21052987-21052988	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1465428	chr19:21053006-21053007	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs181273386	chr19:21053038-21053039	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142065692	chr19:21053052-21053053	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186735731	chr19:21053067-21053068	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139853885	chr19:21053068-21053069	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374739258	chr19:21053092-21053093	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376352758	chr19:21053100-21053101	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149408428	chr19:21053106-21053107	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532365230	chr19:21053107-21053108	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191528893	chr19:21053161-21053162	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569338709	chr19:21053162-21053163	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117997317	chr19:21053180-21053181	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144724895	chr19:21053195-21053196	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567735408	chr19:21053208-21053209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562933946	chr19:21053217-21053218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532080166	chr19:21053232-21053233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139640065	chr19:21053235-21053236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374765094	chr19:21053236-21053237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200518558	chr19:21053250-21053251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs5827486	chr19:21053253-21053254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs35696290	chr19:21053254-21053255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570137391	chr19:21053266-21053267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539262242	chr19:21053275-21053276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs367756348	chr19:21053276-21053277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572526960	chr19:21053301-21053302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372193003	chr19:21053345-21053346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554967489	chr19:21053374-21053375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112514725	chr19:21053407-21053408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377489483	chr19:21053410-21053411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112376357	chr19:21053426-21053427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574798058	chr19:21053491-21053492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144200495	chr19:21053514-21053515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563633202	chr19:21053527-21053528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146559270	chr19:21053551-21053552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545637525	chr19:21053564-21053565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559123939	chr19:21053570-21053571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528132665	chr19:21053589-21053590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565550441	chr19:21053600-21053601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527299982	chr19:21053604-21053605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62123198	chr19:21053632-21053633	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs567943265	chr19:21053638-21053639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530565118	chr19:21053640-21053641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182076567	chr19:21053658-21053659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570375084	chr19:21053659-21053660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538967442	chr19:21053663-21053664	ZNF genes & repeats	n/a	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
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21049400-21071800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21052200-21063600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:21052600-21053200	Active TSS	Fetal Heart	heart
4	chr19:21052600-21053200	ZNF genes & repeats	Spleen	Spleen
5	chr19:21057200-21058200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
6	chr19:21063400-21075600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:21069600-21069800	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:21073000-21073600	Active TSS	Fetal Heart	heart
9	chr19:21073800-21075600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:21075000-21075400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:21075600-21078800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr19:21078800-21081200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:21078800-21082600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr19:21081800-21082800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:21085800-21086200	ZNF genes & repeats	Pancreas	Pancrea
16	chr19:21086600-21087800	ZNF genes & repeats	Fetal Brain Male	brain
17	chr19:21087800-21095400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:21089400-21090200	ZNF genes & repeats	Pancreas	Pancrea
19	chr19:21089600-21090000	ZNF genes & repeats	Fetal Heart	heart
20	chr19:21089800-21090600	ZNF genes & repeats	Liver	Liver
21	chr19:21090000-21090400	Weak transcription	Fetal Heart	heart
22	chr19:21090400-21091000	Active TSS	Fetal Heart	heart
23	chr19:21091800-21094000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:21093600-21097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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