Variant report

Variant	esv2422090
Chromosome Location	chr19:51330932-51333238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51333040-51333190	HEK293	kidney:	n/a	n/a
2	GATA2	chr19:51333094-51333497	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr19:51333191-51333488	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr19:51332385-51332435	ProgFib	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51331524-51331574	BJ	skin:	n/a
2	chr19:51331524-51331574	HRPEpiC	eye:	n/a
3	chr19:51331524-51331574	SK-N-MC	brain:	n/a
4	chr19:51331524-51331574	NHBE	bronchial:	n/a
5	chr19:51331524-51331574	GM12892	blood:	n/a
6	chr19:51331524-51331574	HCM	heart:	n/a
7	chr19:51331524-51331574	HMEC	breast:	n/a
8	chr19:51331524-51331574	AG10803	skin:	n/a
9	chr19:51331524-51331574	IMR90	lung:	fetal
10	chr19:51331524-51331574	HAEpiC	amniotic membrane:	n/a
11	chr19:51331524-51331574	SKMC	muscle:	n/a
12	chr19:51331524-51331574	MCF10A-Er-Src	breast:	n/a
13	chr19:51331524-51331574	T-47D	breast:	n/a
14	chr19:51331524-51331574	CMK	blood:	n/a
15	chr19:51331524-51331574	H1-hESC	embryonic stem cell:	embryo
16	chr19:51331524-51331574	NT2-D1	testis:	n/a
17	chr19:51331524-51331574	BE2_C	brain:	n/a
18	chr19:51331524-51331574	HIPEpiC	eye:	n/a
19	chr19:51331524-51331574	HL-60	blood:	n/a
20	chr19:51331524-51331574	PANC-1	pancreas:	n/a
21	chr19:51331524-51331574	HEK293	kidney:	embryo
22	chr19:51331524-51331574	HUVEC	blood vessel:	n/a
23	chr19:51331524-51331574	SK-N-SH_RA	brain:	n/a
24	chr19:51331524-51331574	HRE	kidney:	n/a
25	chr19:51331524-51331574	HCPEpiC	choroid plexus:	n/a
26	chr19:51331524-51331574	NHDF-neo	bronchial:	n/a
27	chr19:51331524-51331574	ECC-1	luminal epithelium:	n/a
28	chr19:51331524-51331574	HRCEpiC	kidney:	n/a
29	chr19:51331524-51331574	NB4	blood:	n/a
30	chr19:51331524-51331574	HEEpiC	esophagus:	n/a
31	chr19:51331524-51331574	LNCaP	prostate:	n/a
32	chr19:51331524-51331574	GM12891	blood:	n/a
33	chr19:51331524-51331574	AG09309	skin:	n/a
34	chr19:51331524-51331574	PFSK-1	brain:	n/a
35	chr19:51331524-51331574	PrEC	prostate:	n/a
36	chr19:51331524-51331574	MCF-7	breast:	n/a
37	chr19:51331524-51331574	GM12878	blood:	n/a
38	chr19:51331524-51331574	HNPCEpiC	eye:	n/a
39	chr19:51331524-51331574	HCF	heart:	n/a
40	chr19:51331524-51331574	ovcar-3	ovarian:	n/a
41	chr19:51331524-51331574	NH-A	brain:	n/a
42	chr19:51331524-51331574	Hepatocyte	liver:	n/a
43	chr19:51331524-51331574	GM19239	blood:	n/a
44	chr19:51331524-51331574	A549	lung:	n/a
45	chr19:51331524-51331574	AG04449	skin:	fetal
46	chr19:51331524-51331574	K562	blood:	n/a
47	chr19:51331524-51331574	U87	brain:	n/a
48	chr19:51331524-51331574	HCT-116	colon:	n/a
49	chr19:51331524-51331574	SAEC	small airway:	n/a
50	chr19:51331524-51331574	HPAEpiC	pulmonary alveolar:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51329123..51330696-chr19:51332372..51334623,3	K562	blood:
2	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
3	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:

No data

Variant related genes	Relation type
KLK1	TF binding region
ENSG00000267968	TF binding region
KLK15	TF binding region
KLK1	CpG island
ENSG00000267968	CpG island
KLK15	CpG island
ENSG00000167748	chromatin interactions
ENSG00000174562	chromatin interactions
ENSG00000167747	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3745522	chr19:51330932-51330933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551706031	chr19:51330941-51330942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575803983	chr19:51330950-51330951	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138137675	chr19:51330951-51330952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373071936	chr19:51330956-51330957	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371448196	chr19:51330971-51330972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140896741	chr19:51330985-51330986	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200999769	chr19:51330990-51330991	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528730811	chr19:51330992-51330993	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368673765	chr19:51331006-51331007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371903293	chr19:51331025-51331026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565198669	chr19:51331036-51331037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113701137	chr19:51331063-51331064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532646620	chr19:51331091-51331092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550653505	chr19:51331100-51331101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144129022	chr19:51331105-51331106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200404046	chr19:51331109-51331110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369395219	chr19:51331120-51331121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530703861	chr19:51331128-51331129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113760635	chr19:51331132-51331133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548897379	chr19:51331187-51331188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112828981	chr19:51331198-51331199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142271509	chr19:51331199-51331200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74313322	chr19:51331202-51331203	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371577587	chr19:51331203-51331204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201172620	chr19:51331204-51331205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377067813	chr19:51331205-51331206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200360433	chr19:51331206-51331207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372229421	chr19:51331208-51331209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369196607	chr19:51331212-51331213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369241986	chr19:51331233-51331234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs111416267	chr19:51331246-51331247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10412956	chr19:51331314-51331315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534480380	chr19:51331321-51331322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546791232	chr19:51331326-51331327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571217044	chr19:51331341-51331342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538732875	chr19:51331353-51331354	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372714924	chr19:51331408-51331409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs266112	chr19:51331589-51331590	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534596072	chr19:51331629-51331630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546449551	chr19:51331694-51331695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575236682	chr19:51331721-51331722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183658540	chr19:51331722-51331723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373181609	chr19:51331793-51331794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114778988	chr19:51331915-51331916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573594163	chr19:51331922-51331923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540787806	chr19:51331951-51331952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4802748	chr19:51332061-51332062	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577263822	chr19:51332096-51332097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190488673	chr19:51332133-51332134	Weak transcription	Chromatin interactive 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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	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	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51320800-51338800	Weak transcription	Right Atrium	heart
2	chr19:51328000-51333400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:51329800-51331000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51331000-51338800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:51332800-51334400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:51333000-51333800	Enhancers	HSMM	muscle
7	chr19:51333200-51333800	Enhancers	Fetal Heart	heart

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