Variant report

Variant	nsv138350
Chromosome Location	chr19:56850602-56850873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:56850430-56850729	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr19:56850567-56850795	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56850658-56850708	NHBE	bronchial:	n/a
2	chr19:56850658-56850708	K562	blood:	n/a
3	chr19:56850658-56850708	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:56850658-56850708	Caco-2	colon:	n/a
5	chr19:56850658-56850708	Hepatocyte	liver:	n/a
6	chr19:56850658-56850708	HCT-116	colon:	n/a
7	chr19:56850658-56850708	AG04450	lung:	fetal
8	chr19:56850658-56850708	HAEpiC	amniotic membrane:	n/a
9	chr19:56850658-56850708	HRE	kidney:	n/a
10	chr19:56850658-56850708	SKMC	muscle:	n/a
11	chr19:56850658-56850708	AG09319	gingival:	n/a
12	chr19:56850658-56850708	BE2_C	brain:	n/a
13	chr19:56850658-56850708	Jurkat	blood:	n/a
14	chr19:56850658-56850708	HCF	heart:	n/a
15	chr19:56850658-56850708	HepG2	liver:	n/a
16	chr19:56850658-56850708	SK-N-SH_RA	brain:	n/a
17	chr19:56850658-56850708	HCM	heart:	n/a
18	chr19:56850658-56850708	GM12878	blood:	n/a
19	chr19:56850658-56850708	HCPEpiC	choroid plexus:	n/a
20	chr19:56850658-56850708	GM12892	blood:	n/a
21	chr19:56850658-56850708	HRPEpiC	eye:	n/a
22	chr19:56850658-56850708	PFSK-1	brain:	n/a
23	chr19:56850658-56850708	LNCaP	prostate:	n/a
24	chr19:56850658-56850708	NT2-D1	testis:	n/a
25	chr19:56850658-56850708	U87	brain:	n/a
26	chr19:56850658-56850708	CMK	blood:	n/a
27	chr19:56850658-56850708	PrEC	prostate:	n/a
28	chr19:56850658-56850708	PANC-1	pancreas:	n/a
29	chr19:56850658-56850708	MCF-7	breast:	n/a
30	chr19:56850658-56850708	H1-hESC	embryonic stem cell:	embryo
31	chr19:56850658-56850708	MCF10A-Er-Src	breast:	n/a
32	chr19:56850658-56850708	AG04449	skin:	fetal
33	chr19:56850658-56850708	HEEpiC	esophagus:	n/a
34	chr19:56850658-56850708	NB4	blood:	n/a
35	chr19:56850658-56850708	T-47D	breast:	n/a
36	chr19:56850658-56850708	A549	lung:	n/a
37	chr19:56850658-56850708	HUVEC	blood vessel:	n/a
38	chr19:56850658-56850708	AoSMC	blood vessel:	n/a
39	chr19:56850658-56850708	GM06990	blood:	n/a
40	chr19:56850658-56850708	HL-60	blood:	n/a
41	chr19:56850658-56850708	Hela-S3	cervix:	n/a
42	chr19:56850658-56850708	AG10803	skin:	n/a
43	chr19:56850658-56850708	SK-N-SH	brain:	n/a
44	chr19:56850658-56850708	SK-N-MC	brain:	n/a
45	chr19:56850658-56850708	BJ	skin:	n/a
46	chr19:56850658-56850708	SAEC	small airway:	n/a
47	chr19:56850658-56850708	HRCEpiC	kidney:	n/a
48	chr19:56850658-56850708	GM12891	blood:	n/a
49	chr19:56850658-56850708	ProgFib	skin:	n/a
50	chr19:56850658-56850708	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000267145	TF binding region
ENSG00000267145	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 67 )

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	rs528291954	chr19:56850609-56850610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576761910	chr19:56850610-56850611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146740629	chr19:56850613-56850614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs140284131	chr19:56850625-56850626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113340446	chr19:56850633-56850634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182692665	chr19:56850635-56850636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34663767	chr19:56850643-56850644	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199589615	chr19:56850644-56850645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543407070	chr19:56850656-56850657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563364731	chr19:56850658-56850659	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs531468948	chr19:56850686-56850687	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs548113744	chr19:56850690-56850691	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs8100966	chr19:56850692-56850693	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs527542556	chr19:56850701-56850702	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs547462700	chr19:56850705-56850706	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs570413096	chr19:56850720-56850721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539522236	chr19:56850724-56850725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs8101055	chr19:56850726-56850727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12972607	chr19:56850727-56850728	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12972614	chr19:56850735-56850736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35843446	chr19:56850760-56850761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs8103954	chr19:56850794-56850795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111772056	chr19:56850805-56850806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140357367	chr19:56850828-56850829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113909637	chr19:56850839-56850840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145040544	chr19:56850862-56850863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113291353	chr19:56850871-56850872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550176458	chr19:56850873-56850874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56850400-56851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links