Variant report

Variant	nsv579961
Chromosome Location	chr19:51509726-51516015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:366)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51511053-51511112	GM10266	blood:	n/a	n/a
2	CTCF	chr19:51514940-51514973	Lung_OC	lung:	n/a	n/a
3	ELF1	chr19:51509795-51510060	K562	blood:	n/a	n/a
4	FOS	chr19:51513717-51513913	MCF10A-Er-Src	breast:	n/a	chr19:51513739-51513748
5	HDAC2	chr19:51510795-51510997	K562	blood:	n/a	n/a
6	JUN	chr19:51509656-51509821	K562	blood:	n/a	n/a
7	JUN	chr19:51509803-51509939	HepG2	liver:	n/a	chr19:51509838-51509851
8	JUND	chr19:51509715-51510011	HepG2	liver:	n/a	n/a
9	JUND	chr19:51509760-51509880	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr19:51509785-51509985	K562	blood:	n/a	n/a
11	POLR2A	chr19:51514943-51515046	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:51515447-51515503	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:51514883-51515055	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:51515351-51515399	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr19:51510839-51511075	K562	blood:	n/a	n/a
16	RCOR1	chr19:51510735-51511119	K562	blood:	n/a	n/a
17	SP1	chr19:51514902-51515086	HepG2	liver:	n/a	n/a
18	ZNF143	chr19:51510786-51511086	K562	blood:	n/a	chr19:51510931-51510950 chr19:51510932-51510947
19	ZNF143	chr19:51510775-51511052	H1-hESC	embryonic stem cell:	n/a	chr19:51510931-51510950 chr19:51510932-51510947

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51513252-51513302	HEK293	kidney:	embryo
2	chr19:51513252-51513302	HCF	heart:	n/a
3	chr19:51513883-51513933	MCF-7	breast:	n/a
4	chr19:51514146-51514196	HEEpiC	esophagus:	n/a
5	chr19:51514146-51514196	AoSMC	blood vessel:	n/a
6	chr19:51513296-51513346	HCF	heart:	n/a
7	chr19:51512895-51512945	Hepatocyte	liver:	n/a
8	chr19:51513611-51513661	Jurkat	blood:	n/a
9	chr19:51514146-51514196	ECC-1	luminal epithelium:	n/a
10	chr19:51513296-51513346	HCM	heart:	n/a
11	chr19:51513252-51513302	GM12891	blood:	n/a
12	chr19:51513296-51513346	SK-N-SH	brain:	n/a
13	chr19:51513252-51513302	HRCEpiC	kidney:	n/a
14	chr19:51513252-51513302	GM06990	blood:	n/a
15	chr19:51513611-51513661	HEEpiC	esophagus:	n/a
16	chr19:51513296-51513346	SK-N-SH_RA	brain:	n/a
17	chr19:51513883-51513933	SKMC	muscle:	n/a
18	chr19:51514146-51514196	A549	lung:	n/a
19	chr19:51513252-51513302	MCF10A-Er-Src	breast:	n/a
20	chr19:51514146-51514196	SAEC	small airway:	n/a
21	chr19:51512895-51512945	NB4	blood:	n/a
22	chr19:51513252-51513302	HCM	heart:	n/a
23	chr19:51513252-51513302	Hepatocyte	liver:	n/a
24	chr19:51513296-51513346	IMR90	lung:	fetal
25	chr19:51514146-51514196	NHBE	bronchial:	n/a
26	chr19:51513883-51513933	HCPEpiC	choroid plexus:	n/a
27	chr19:51513296-51513346	CMK	blood:	n/a
28	chr19:51513611-51513661	U87	brain:	n/a
29	chr19:51513252-51513302	Hela-S3	cervix:	n/a
30	chr19:51513883-51513933	SK-N-SH_RA	brain:	n/a
31	chr19:51513296-51513346	K562	blood:	n/a
32	chr19:51514146-51514196	GM06990	blood:	n/a
33	chr19:51514146-51514196	NHDF-neo	bronchial:	n/a
34	chr19:51514146-51514196	HCM	heart:	n/a
35	chr19:51512895-51512945	T-47D	breast:	n/a
36	chr19:51513252-51513302	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:51513252-51513302	SK-N-SH_RA	brain:	n/a
38	chr19:51512895-51512945	U87	brain:	n/a
39	chr19:51513883-51513933	ovcar-3	ovarian:	n/a
40	chr19:51513252-51513302	AG04450	lung:	fetal
41	chr19:51513611-51513661	HepG2	liver:	n/a
42	chr19:51513883-51513933	K562	blood:	n/a
43	chr19:51513252-51513302	BE2_C	brain:	n/a
44	chr19:51513611-51513661	MCF-7	breast:	n/a
45	chr19:51513296-51513346	HepG2	liver:	n/a
46	chr19:51512895-51512945	AG09309	skin:	n/a
47	chr19:51513611-51513661	IMR90	lung:	fetal
48	chr19:51513252-51513302	NHBE	bronchial:	n/a
49	chr19:51513252-51513302	BJ	skin:	n/a
50	chr19:51513611-51513661	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:51509564..51511935-chr19:51512603..51515013,2	K562	blood:
2	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:
3	chr19:51511667..51513229-chr19:51517144..51519553,2	MCF-7	breast:
4	chr19:51513231..51514841-chr19:51517029..51519678,2	MCF-7	breast:
5	chr19:51448114..51450757-chr19:51514230..51516246,2	K562	blood:
6	chr19:51512058..51513939-chr19:51514740..51518594,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLK2-5	chr19:51515279-51515385	ENSG00000267879.1

No data

Variant related genes	Relation type
ENSG00000269741	TF binding region
KLK9	TF binding region
ENSG00000268739	TF binding region
KLK8	TF binding region
ENSG00000269741	CpG island
KLK9	CpG island
ENSG00000268739	CpG island
KLK8	CpG island
ENSG00000268739	chromatin interactions
ENSG00000213022	chromatin interactions

Extended variants
information (count: 288 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:288 , 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	rs200701550	chr19:51509729-51509730	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs370862501	chr19:51509774-51509775	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201918324	chr19:51509798-51509799	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372567256	chr19:51509813-51509814	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560176623	chr19:51509815-51509816	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs527687375	chr19:51509833-51509834	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200242183	chr19:51509901-51509902	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564135291	chr19:51509907-51509908	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs199562910	chr19:51509908-51509909	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs149922887	chr19:51509913-51509914	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs532477185	chr19:51509915-51509916	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112211880	chr19:51509951-51509952	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201756678	chr19:51509966-51509967	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145001307	chr19:51509981-51509982	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190220853	chr19:51510022-51510023	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149311972	chr19:51510064-51510065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2569478	chr19:51510078-51510079	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs80122290	chr19:51510079-51510080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28528952	chr19:51510094-51510095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144553655	chr19:51510128-51510129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116877294	chr19:51510145-51510146	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77042764	chr19:51510150-51510151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557467705	chr19:51510227-51510228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556547682	chr19:51510229-51510230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545095597	chr19:51510230-51510231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542016214	chr19:51510241-51510242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75696816	chr19:51510280-51510281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572251416	chr19:51510298-51510299	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563395825	chr19:51510314-51510315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368337299	chr19:51510346-51510347	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545881579	chr19:51510347-51510348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564175912	chr19:51510357-51510358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182152159	chr19:51510430-51510431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544517452	chr19:51510509-51510510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139269216	chr19:51510532-51510533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529911995	chr19:51510572-51510573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2177618	chr19:51510610-51510611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7249817	chr19:51510616-51510617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548360765	chr19:51510621-51510622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144085713	chr19:51510633-51510634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7507626	chr19:51510682-51510683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530824969	chr19:51510683-51510684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552278859	chr19:51510684-51510685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146101915	chr19:51510708-51510709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537406327	chr19:51510709-51510710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186804845	chr19:51510716-51510717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539874375	chr19:51510765-51510766	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs1007755	chr19:51510768-51510769	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577385411	chr19:51510787-51510788	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs193095498	chr19:51510861-51510862	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51507200-51512400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51509200-51510600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51509400-51510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:51509400-51510800	Enhancers	HMEC	breast
5	chr19:51509600-51510200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:51509600-51510200	Enhancers	NHEK	skin
7	chr19:51509600-51510400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:51509600-51510400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:51510200-51512000	Weak transcription	NHEK	skin
10	chr19:51510200-51512400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:51510400-51512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:51510600-51512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:51510800-51512000	Weak transcription	HMEC	breast
15	chr19:51512000-51512800	Enhancers	NHEK	skin
16	chr19:51512000-51514800	Enhancers	HMEC	breast
17	chr19:51512200-51512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:51512200-51514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:51512400-51512600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:51512400-51512600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:51512400-51513200	Enhancers	Esophagus	oesophagus
22	chr19:51512400-51513400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:51512600-51513000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:51512800-51513000	Flanking Active TSS	NHEK	skin
25	chr19:51513000-51513200	Enhancers	NHEK	skin
26	chr19:51513000-51514800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:51513200-51513400	Flanking Active TSS	NHEK	skin
28	chr19:51513200-51514000	Weak transcription	Esophagus	oesophagus
29	chr19:51513400-51514800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:51513400-51514800	Enhancers	NHEK	skin
31	chr19:51514000-51514600	Enhancers	Esophagus	oesophagus
32	chr19:51514400-51519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:51514600-51517200	Weak transcription	Esophagus	oesophagus
34	chr19:51514800-51516200	Weak transcription	HMEC	breast
35	chr19:51514800-51517200	Weak transcription	NHEK	skin
36	chr19:51514800-51517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:51514800-51517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:51514800-51520200	Weak transcription	Right Atrium	heart
39	chr19:51516000-51517400	Weak transcription	Ovary	ovary

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