Variant report

Variant	esv1851252
Chromosome Location	chr19:23122426-23142467
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	chr19:22121231..22124221-chr19:23121228..23123891,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF99-2	chr19:23128467-23128510	XLOC_013271

Variant related genes	Relation type
ENSG00000269615	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs424913	chr19:23122426-23122427	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529887798	chr19:23122479-23122480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548380946	chr19:23122531-23122532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367741296	chr19:23122561-23122562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192524535	chr19:23122601-23122602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527573063	chr19:23122603-23122604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs428612	chr19:23122604-23122605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386808031	chr19:23122614-23122615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs436550	chr19:23122620-23122621	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549822284	chr19:23122643-23122644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs449210	chr19:23122647-23122648	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535210259	chr19:23122702-23122703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553939160	chr19:23122714-23122715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185312717	chr19:23122743-23122744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149261732	chr19:23122746-23122747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375188754	chr19:23122747-23122748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143464556	chr19:23122759-23122760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188796876	chr19:23122786-23122787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370584898	chr19:23122787-23122788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543472270	chr19:23122790-23122791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373715264	chr19:23122792-23122793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562141236	chr19:23122827-23122828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181946953	chr19:23122851-23122852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117067199	chr19:23122874-23122875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540313330	chr19:23122890-23122891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367820998	chr19:23122891-23122892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs137885650	chr19:23122934-23122935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144147436	chr19:23122951-23122952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75292751	chr19:23122959-23122960	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184826333	chr19:23122989-23122990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564245282	chr19:23123019-23123020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371700307	chr19:23123067-23123068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147323433	chr19:23123100-23123101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386808032	chr19:23123102-23123103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567761679	chr19:23123107-23123108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73023689	chr19:23123126-23123127	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547095749	chr19:23123164-23123165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111285015	chr19:23123198-23123199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189295624	chr19:23123276-23123277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558399344	chr19:23123290-23123291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112113828	chr19:23123344-23123345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181024971	chr19:23123372-23123373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540963189	chr19:23123398-23123399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs5827542	chr19:23123399-23123400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112061494	chr19:23123400-23123401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368117954	chr19:23123402-23123403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373883699	chr19:23123404-23123405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543559263	chr19:23123406-23123407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77317355	chr19:23123420-23123421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569195352	chr19:23123421-23123422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
4	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:23128400-23128800	Active TSS	Fetal Heart	heart
7	chr19:23129400-23130000	Active TSS	Right Atrium	heart
8	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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