Variant report

Variant	nsv963050
Chromosome Location	chr19:41383957-41386230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41383928-41383999	LNCaP	prostate:	n/a	n/a
2	CTCF	chr19:41386211-41386665	K562	blood:	n/a	n/a
3	POLR2A	chr19:41386159-41386584	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:41386101-41386269	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF263	chr19:41384603-41384719	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41385865-41385915	GM12891	blood:	n/a
2	chr19:41385865-41385915	GM06990	blood:	n/a
3	chr19:41385865-41385915	GM12878	blood:	n/a
4	chr19:41385865-41385915	Hela-S3	cervix:	n/a
5	chr19:41385865-41385915	HIPEpiC	eye:	n/a
6	chr19:41385865-41385915	SK-N-SH_RA	brain:	n/a
7	chr19:41385865-41385915	Jurkat	blood:	n/a
8	chr19:41385865-41385915	T-47D	breast:	n/a
9	chr19:41385865-41385915	SK-N-MC	brain:	n/a
10	chr19:41385865-41385915	BJ	skin:	n/a
11	chr19:41385865-41385915	Hepatocyte	liver:	n/a
12	chr19:41385865-41385915	HEEpiC	esophagus:	n/a
13	chr19:41385865-41385915	HepG2	liver:	n/a
14	chr19:41385865-41385915	NB4	blood:	n/a
15	chr19:41385865-41385915	HUVEC	blood vessel:	n/a
16	chr19:41385865-41385915	ECC-1	luminal epithelium:	n/a
17	chr19:41385865-41385915	MCF10A-Er-Src	breast:	n/a
18	chr19:41385865-41385915	K562	blood:	n/a
19	chr19:41385865-41385915	HRE	kidney:	n/a
20	chr19:41385865-41385915	HL-60	blood:	n/a
21	chr19:41385865-41385915	HAEpiC	amniotic membrane:	n/a
22	chr19:41385865-41385915	HNPCEpiC	eye:	n/a
23	chr19:41385865-41385915	HCM	heart:	n/a
24	chr19:41385865-41385915	HEK293	kidney:	embryo
25	chr19:41385865-41385915	HCT-116	colon:	n/a
26	chr19:41385865-41385915	BE2_C	brain:	n/a
27	chr19:41385865-41385915	HMEC	breast:	n/a
28	chr19:41385865-41385915	U87	brain:	n/a
29	chr19:41385865-41385915	PFSK-1	brain:	n/a
30	chr19:41385865-41385915	MCF-7	breast:	n/a
31	chr19:41385865-41385915	IMR90	lung:	fetal
32	chr19:41385865-41385915	AG04449	skin:	fetal
33	chr19:41385865-41385915	LNCaP	prostate:	n/a
34	chr19:41385865-41385915	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:41385865-41385915	RPTEC	kidney:	n/a
36	chr19:41385865-41385915	AoSMC	blood vessel:	n/a
37	chr19:41385865-41385915	NH-A	brain:	n/a
38	chr19:41385865-41385915	Caco-2	colon:	n/a
39	chr19:41385865-41385915	SK-N-SH	brain:	n/a
40	chr19:41385865-41385915	GM19239	blood:	n/a
41	chr19:41385865-41385915	HRPEpiC	eye:	n/a
42	chr19:41385865-41385915	SKMC	muscle:	n/a
43	chr19:41385865-41385915	PANC-1	pancreas:	n/a
44	chr19:41385865-41385915	ProgFib	skin:	n/a
45	chr19:41385865-41385915	AG04450	lung:	fetal
46	chr19:41385865-41385915	NT2-D1	testis:	n/a
47	chr19:41385865-41385915	HCF	heart:	n/a
48	chr19:41385865-41385915	GM12892	blood:	n/a
49	chr19:41385865-41385915	AG09319	gingival:	n/a
50	chr19:41385865-41385915	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
CYP2A7	TF binding region
CYP2A7	CpG island

Extended variants
information (count: 158 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs558045870	chr19:41383961-41383962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555155044	chr19:41383978-41383979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3822479	chr19:41383989-41383990	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186325911	chr19:41384031-41384032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4079370	chr19:41384067-41384068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs2909906	chr19:41384084-41384085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541031932	chr19:41384092-41384093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559704244	chr19:41384101-41384102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2935235	chr19:41384102-41384103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548271843	chr19:41384136-41384137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188541088	chr19:41384153-41384154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3882550	chr19:41384158-41384159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552379064	chr19:41384187-41384188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3956338	chr19:41384189-41384190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572902851	chr19:41384196-41384197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570628709	chr19:41384198-41384199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534934841	chr19:41384255-41384256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181006947	chr19:41384257-41384258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568066404	chr19:41384258-41384259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368300400	chr19:41384268-41384269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113090985	chr19:41384281-41384282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535491255	chr19:41384302-41384303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142926681	chr19:41384334-41384335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147261284	chr19:41384346-41384347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537219263	chr19:41384347-41384348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559122628	chr19:41384379-41384380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71334950	chr19:41384385-41384386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10402703	chr19:41384386-41384387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs559838920	chr19:41384388-41384389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532269726	chr19:41384393-41384394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574480714	chr19:41384394-41384395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113971769	chr19:41384431-41384432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185022523	chr19:41384433-41384434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530935643	chr19:41384478-41384479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552054838	chr19:41384482-41384483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550188456	chr19:41384491-41384492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528328004	chr19:41384492-41384493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546871198	chr19:41384521-41384522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113986398	chr19:41384533-41384534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535417801	chr19:41384542-41384543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144617542	chr19:41384569-41384570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568938238	chr19:41384577-41384578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4453619	chr19:41384578-41384579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147884612	chr19:41384589-41384590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553233666	chr19:41384630-41384631	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs4079367	chr19:41384637-41384638	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191003934	chr19:41384644-41384645	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs372855525	chr19:41384647-41384648	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369173002	chr19:41384648-41384649	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575296850	chr19:41384659-41384660	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41382600-41384400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:41382600-41386200	Weak transcription	Lung	lung
3	chr19:41383200-41387000	Weak transcription	Liver	Liver
4	chr19:41384400-41384800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:41385600-41386000	Weak transcription	Ovary	ovary
6	chr19:41386000-41386200	Enhancers	Ovary	ovary
7	chr19:41386200-41386400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:41386200-41386600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr19:41386200-41386600	Enhancers	Lung	lung
10	chr19:41386200-41386600	Flanking Active TSS	Ovary	ovary

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