Variant report

Variant	nsv978818
Chromosome Location	chr19:41534298-41535715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41535036-41535151	GM20000	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41535072-41535122	Hepatocyte	liver:	n/a
2	chr19:41535072-41535122	Hepatocyte	liver:	n/a
3	chr19:41535072-41535122	AG09319	gingival:	n/a
4	chr19:41535072-41535122	Caco-2	colon:	n/a
5	chr19:41535072-41535122	ECC-1	luminal epithelium:	n/a
6	chr19:41535072-41535122	HCF	heart:	n/a
7	chr19:41535072-41535122	BE2_C	brain:	n/a
8	chr19:41535072-41535122	SK-N-SH	brain:	n/a
9	chr19:41535072-41535122	CMK	blood:	n/a
10	chr19:41535072-41535122	Hela-S3	cervix:	n/a
11	chr19:41535072-41535122	U87	brain:	n/a
12	chr19:41535072-41535122	HAEpiC	amniotic membrane:	n/a
13	chr19:41535072-41535122	MCF10A-Er-Src	breast:	n/a
14	chr19:41535072-41535122	HCT-116	colon:	n/a
15	chr19:41535072-41535122	GM06990	blood:	n/a
16	chr19:41535072-41535122	HNPCEpiC	eye:	n/a
17	chr19:41535072-41535122	HEK293	kidney:	embryo
18	chr19:41535072-41535122	HUVEC	blood vessel:	n/a
19	chr19:41535072-41535122	HIPEpiC	eye:	n/a
20	chr19:41535072-41535122	HL-60	blood:	n/a
21	chr19:41535072-41535122	MCF-7	breast:	n/a
22	chr19:41535072-41535122	HRPEpiC	eye:	n/a
23	chr19:41535072-41535122	PANC-1	pancreas:	n/a
24	chr19:41535072-41535122	A549	lung:	n/a
25	chr19:41535072-41535122	PFSK-1	brain:	n/a
26	chr19:41535072-41535122	AG04450	lung:	fetal
27	chr19:41535072-41535122	RPTEC	kidney:	n/a
28	chr19:41535072-41535122	HRE	kidney:	n/a
29	chr19:41535072-41535122	GM12891	blood:	n/a
30	chr19:41535072-41535122	SKMC	muscle:	n/a
31	chr19:41535072-41535122	AG10803	skin:	n/a
32	chr19:41535072-41535122	ProgFib	skin:	n/a
33	chr19:41535072-41535122	GM12878	blood:	n/a
34	chr19:41535072-41535122	NB4	blood:	n/a
35	chr19:41535072-41535122	BJ	skin:	n/a
36	chr19:41535072-41535122	SAEC	small airway:	n/a
37	chr19:41535072-41535122	Jurkat	blood:	n/a
38	chr19:41535072-41535122	GM12892	blood:	n/a
39	chr19:41535072-41535122	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:41535072-41535122	NH-A	brain:	n/a
41	chr19:41535072-41535122	NT2-D1	testis:	n/a
42	chr19:41535072-41535122	HCM	heart:	n/a
43	chr19:41535072-41535122	AoSMC	blood vessel:	n/a
44	chr19:41535072-41535122	HEEpiC	esophagus:	n/a
45	chr19:41535072-41535122	PrEC	prostate:	n/a
46	chr19:41535072-41535122	NHBE	bronchial:	n/a
47	chr19:41535072-41535122	HCPEpiC	choroid plexus:	n/a
48	chr19:41535072-41535122	ovcar-3	ovarian:	n/a
49	chr19:41535072-41535122	K562	blood:	n/a
50	chr19:41535072-41535122	GM19239	blood:	n/a

No data

Variant related genes	Relation type
CYP2A7P1	TF binding region
CYP2A7P1	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375732199	chr19:41534303-41534304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368852769	chr19:41534313-41534314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552116378	chr19:41534314-41534315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564147524	chr19:41534328-41534329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528516198	chr19:41534350-41534351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368433723	chr19:41534443-41534444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373108489	chr19:41534489-41534490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73561518	chr19:41534509-41534510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76937139	chr19:41534514-41534515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78476339	chr19:41534548-41534549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568154386	chr19:41534572-41534573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11670678	chr19:41534633-41534634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35302051	chr19:41534640-41534641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569105422	chr19:41534652-41534653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150511373	chr19:41534672-41534673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557746816	chr19:41534731-41534732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572880865	chr19:41534742-41534743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533862539	chr19:41534788-41534789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17726861	chr19:41534806-41534807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574912845	chr19:41534835-41534836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578240974	chr19:41534850-41534851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542380150	chr19:41534857-41534858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116382863	chr19:41534881-41534882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575851443	chr19:41534882-41534883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62120871	chr19:41534901-41534902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34781552	chr19:41534909-41534910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530924026	chr19:41534927-41534928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189807707	chr19:41534936-41534937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28671673	chr19:41534941-41534942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10413524	chr19:41534976-41534977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529393679	chr19:41534997-41534998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17799912	chr19:41535003-41535004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183556882	chr19:41535021-41535022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539699222	chr19:41535027-41535028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10414090	chr19:41535050-41535051	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566458895	chr19:41535061-41535062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187797156	chr19:41535063-41535064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555424593	chr19:41535072-41535073	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs190762664	chr19:41535073-41535074	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs547542034	chr19:41535086-41535087	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs183293801	chr19:41535087-41535088	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs10415473	chr19:41535095-41535096	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188342884	chr19:41535152-41535153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140950502	chr19:41535174-41535175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564476976	chr19:41535211-41535212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113129391	chr19:41535216-41535217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540207407	chr19:41535217-41535218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551242193	chr19:41535254-41535255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376986067	chr19:41535257-41535258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561955240	chr19:41535262-41535263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41532200-41536800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:41532200-41537000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:41534200-41534400	Enhancers	Placenta	Placenta
4	chr19:41534400-41535400	Weak transcription	Placenta	Placenta
5	chr19:41535400-41535800	Weak transcription	Liver	Liver
6	chr19:41535400-41539400	Enhancers	Placenta	Placenta

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