Variant report

Variant	esv3405867
Chromosome Location	chr19:53665760-53666628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53665821-53665871	HCM	heart:	n/a
2	chr19:53665821-53665871	K562	blood:	n/a
3	chr19:53665821-53665871	SKMC	muscle:	n/a
4	chr19:53665821-53665871	NHDF-neo	bronchial:	n/a
5	chr19:53665821-53665871	ovcar-3	ovarian:	n/a
6	chr19:53665821-53665871	AG04450	lung:	fetal
7	chr19:53665821-53665871	HAEpiC	amniotic membrane:	n/a
8	chr19:53665821-53665871	AG10803	skin:	n/a
9	chr19:53665821-53665871	HUVEC	blood vessel:	n/a
10	chr19:53665821-53665871	AG09319	gingival:	n/a
11	chr19:53665821-53665871	HMEC	breast:	n/a
12	chr19:53665821-53665871	A549	lung:	n/a
13	chr19:53665821-53665871	HCT-116	colon:	n/a
14	chr19:53665821-53665871	GM12878	blood:	n/a
15	chr19:53665821-53665871	SK-N-MC	brain:	n/a
16	chr19:53665821-53665871	T-47D	breast:	n/a
17	chr19:53665821-53665871	ProgFib	skin:	n/a
18	chr19:53665821-53665871	GM12892	blood:	n/a
19	chr19:53665821-53665871	HRE	kidney:	n/a
20	chr19:53665821-53665871	CMK	blood:	n/a
21	chr19:53665821-53665871	LNCaP	prostate:	n/a
22	chr19:53665821-53665871	Caco-2	colon:	n/a
23	chr19:53665821-53665871	HEK293	kidney:	embryo
24	chr19:53665821-53665871	RPTEC	kidney:	n/a
25	chr19:53665821-53665871	AG04449	skin:	fetal
26	chr19:53665821-53665871	U87	brain:	n/a
27	chr19:53665821-53665871	BJ	skin:	n/a
28	chr19:53665821-53665871	Hela-S3	cervix:	n/a
29	chr19:53665821-53665871	NHBE	bronchial:	n/a
30	chr19:53665821-53665871	HRCEpiC	kidney:	n/a
31	chr19:53665821-53665871	GM19239	blood:	n/a
32	chr19:53665821-53665871	GM06990	blood:	n/a
33	chr19:53665821-53665871	H1-hESC	embryonic stem cell:	embryo
34	chr19:53665821-53665871	PrEC	prostate:	n/a
35	chr19:53665821-53665871	NH-A	brain:	n/a
36	chr19:53665821-53665871	HRPEpiC	eye:	n/a
37	chr19:53665821-53665871	Jurkat	blood:	n/a
38	chr19:53665821-53665871	SK-N-SH	brain:	n/a
39	chr19:53665821-53665871	HEEpiC	esophagus:	n/a
40	chr19:53665821-53665871	NT2-D1	testis:	n/a
41	chr19:53665821-53665871	MCF-7	breast:	n/a
42	chr19:53665821-53665871	HCPEpiC	choroid plexus:	n/a
43	chr19:53665821-53665871	HepG2	liver:	n/a
44	chr19:53665821-53665871	GM12891	blood:	n/a
45	chr19:53665821-53665871	ECC-1	luminal epithelium:	n/a
46	chr19:53665821-53665871	IMR90	lung:	fetal
47	chr19:53665821-53665871	MCF10A-Er-Src	breast:	n/a
48	chr19:53665821-53665871	HIPEpiC	eye:	n/a
49	chr19:53665821-53665871	NB4	blood:	n/a
50	chr19:53665821-53665871	AG09309	skin:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VN1R2-7	chr19:53665681-53665836	ENSG00000268842.1
2	lnc-VN1R2-7	chr19:53666614-53666816	ENSG00000268842.1

No data

Variant related genes	Relation type
ZNF347	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369885604	chr19:53665821-53665822	Weak transcription ZNF genes & repeats	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs574029755	chr19:53665830-53665831	Weak transcription ZNF genes & repeats	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs375017838	chr19:53665849-53665850	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs78350936	chr19:53665850-53665851	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs191224558	chr19:53665871-53665872	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs540646645	chr19:53665882-53665883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559432548	chr19:53665917-53665918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563542431	chr19:53665935-53665936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183076648	chr19:53665966-53665967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556086994	chr19:53666105-53666106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146693184	chr19:53666106-53666107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144589625	chr19:53666136-53666137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372398522	chr19:53666269-53666270	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560719597	chr19:53666274-53666275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528230014	chr19:53666318-53666319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187675394	chr19:53666347-53666348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559547709	chr19:53666356-53666357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139803535	chr19:53666374-53666375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192593712	chr19:53666401-53666402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12977280	chr19:53666435-53666436	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570721348	chr19:53666477-53666478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs11668679	chr19:53666479-53666480	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147575004	chr19:53666518-53666519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567540022	chr19:53666565-53666566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373886917	chr19:53666570-53666571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550106742	chr19:53666579-53666580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553477567	chr19:53666582-53666583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571483703	chr19:53666590-53666591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53662600-53668800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:53662800-53668200	Weak transcription	Pancreas	Pancrea
3	chr19:53663000-53667000	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:53663000-53667600	Weak transcription	Ovary	ovary
5	chr19:53663000-53668000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:53664400-53670200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:53664800-53695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:53665800-53667600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:53666600-53670400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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