Variant report

Variant	esv3345084
Chromosome Location	chr19:51416258-51418089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr19:51416042-51416277	GM12878	blood:	n/a	n/a
2	BHLHE40	chr19:51416023-51416355	GM12878	blood:	n/a	chr19:51416232-51416248
3	EBF1	chr19:51416169-51416266	GM12878	blood:	n/a	n/a
4	EBF1	chr19:51416006-51416389	GM12878	blood:	n/a	n/a
5	EGR1	chr19:51416062-51416360	K562	blood:	n/a	chr19:51416184-51416199
6	EGR1	chr19:51416063-51416277	K562	blood:	n/a	chr19:51416184-51416199
7	EP300	chr19:51416101-51416321	GM12878	blood:	n/a	chr19:51416208-51416217
8	EP300	chr19:51416129-51416333	GM12878	blood:	n/a	chr19:51416208-51416217
9	IRF4	chr19:51417184-51417831	GM12878	blood:	n/a	n/a
10	IRF4	chr19:51417223-51417545	GM12878	blood:	n/a	n/a
11	IRF4	chr19:51416749-51417120	GM12878	blood:	n/a	n/a
12	IRF4	chr19:51416647-51417130	GM12878	blood:	n/a	n/a
13	JUND	chr19:51416034-51416312	K562	blood:	n/a	n/a
14	MAX	chr19:51416066-51416289	GM12878	blood:	n/a	n/a
15	MAZ	chr19:51416050-51416288	GM12878	blood:	n/a	n/a
16	MYC	chr19:51415990-51416274	MCF-7	breast:	n/a	n/a
17	PAX5	chr19:51417330-51417510	GM12878	blood:	n/a	n/a
18	PAX5	chr19:51415964-51416375	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:51417986-51418080	MCF10A-Er-Src	breast:	n/a	n/a
20	RUNX3	chr19:51415991-51416402	GM12878	blood:	n/a	n/a
21	RUNX3	chr19:51415903-51416420	GM12878	blood:	n/a	n/a
22	TBL1XR1	chr19:51416087-51416291	GM12878	blood:	n/a	n/a
23	TEAD4	chr19:51416078-51416448	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr19:51416060-51416419	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr19:51416109-51416358	H1-hESC	embryonic stem cell:	n/a	chr19:51416208-51416218

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51416213-51416263	AoSMC	blood vessel:	n/a
2	chr19:51416517-51416567	LNCaP	prostate:	n/a
3	chr19:51416213-51416263	ProgFib	skin:	n/a
4	chr19:51416213-51416263	Hela-S3	cervix:	n/a
5	chr19:51416213-51416263	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:51416517-51416567	CMK	blood:	n/a
7	chr19:51416213-51416263	NT2-D1	testis:	n/a
8	chr19:51416213-51416263	PANC-1	pancreas:	n/a
9	chr19:51416213-51416263	BE2_C	brain:	n/a
10	chr19:51416517-51416567	Hela-S3	cervix:	n/a
11	chr19:51416517-51416567	A549	lung:	n/a
12	chr19:51416517-51416567	AG09309	skin:	n/a
13	chr19:51416517-51416567	AG04450	lung:	fetal
14	chr19:51416517-51416567	SK-N-MC	brain:	n/a
15	chr19:51416213-51416263	Hepatocyte	liver:	n/a
16	chr19:51416517-51416567	HRCEpiC	kidney:	n/a
17	chr19:51416517-51416567	HL-60	blood:	n/a
18	chr19:51416213-51416263	HCPEpiC	choroid plexus:	n/a
19	chr19:51416517-51416567	HCT-116	colon:	n/a
20	chr19:51416213-51416263	ECC-1	luminal epithelium:	n/a
21	chr19:51416213-51416263	SK-N-SH_RA	brain:	n/a
22	chr19:51416517-51416567	AG04449	skin:	fetal
23	chr19:51416517-51416567	PFSK-1	brain:	n/a
24	chr19:51416213-51416263	HRCEpiC	kidney:	n/a
25	chr19:51416213-51416263	HRE	kidney:	n/a
26	chr19:51416213-51416263	IMR90	lung:	fetal
27	chr19:51416213-51416263	U87	brain:	n/a
28	chr19:51416517-51416567	HepG2	liver:	n/a
29	chr19:51416517-51416567	HNPCEpiC	eye:	n/a
30	chr19:51416517-51416567	BJ	skin:	n/a
31	chr19:51416517-51416567	NHDF-neo	bronchial:	n/a
32	chr19:51416213-51416263	H1-hESC	embryonic stem cell:	embryo
33	chr19:51416213-51416263	LNCaP	prostate:	n/a
34	chr19:51416517-51416567	HAEpiC	amniotic membrane:	n/a
35	chr19:51416213-51416263	AG04450	lung:	fetal
36	chr19:51416517-51416567	MCF10A-Er-Src	breast:	n/a
37	chr19:51416517-51416567	GM12891	blood:	n/a
38	chr19:51416517-51416567	GM12892	blood:	n/a
39	chr19:51416517-51416567	HUVEC	blood vessel:	n/a
40	chr19:51416213-51416263	NH-A	brain:	n/a
41	chr19:51416517-51416567	NT2-D1	testis:	n/a
42	chr19:51416213-51416263	SKMC	muscle:	n/a
43	chr19:51416213-51416263	MCF-7	breast:	n/a
44	chr19:51416213-51416263	PFSK-1	brain:	n/a
45	chr19:51416517-51416567	Hepatocyte	liver:	n/a
46	chr19:51416517-51416567	HRE	kidney:	n/a
47	chr19:51416517-51416567	PrEC	prostate:	n/a
48	chr19:51416213-51416263	HUVEC	blood vessel:	n/a
49	chr19:51416517-51416567	HMEC	breast:	n/a
50	chr19:51416213-51416263	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51293560..51298277-chr19:51413419..51418761,7	K562	blood:

No data

Variant related genes	Relation type
KLK4	TF binding region
KLK4	CpG island
ENSG00000268375	chromatin interactions
ENSG00000142513	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557159742	chr19:51416270-51416271	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117319693	chr19:51416277-51416278	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575634405	chr19:51416337-51416338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367955708	chr19:51416342-51416343	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs571063570	chr19:51416367-51416368	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35286649	chr19:51416451-51416452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186077216	chr19:51416488-51416489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542608856	chr19:51416489-51416490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568239777	chr19:51416493-51416494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535426354	chr19:51416518-51416519	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372201009	chr19:51416570-51416571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376494249	chr19:51416629-51416630	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113675449	chr19:51416630-51416631	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573032740	chr19:51416636-51416637	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559109726	chr19:51416658-51416659	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534145630	chr19:51416671-51416672	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs114733793	chr19:51416712-51416713	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527961581	chr19:51416721-51416722	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs190932207	chr19:51416736-51416737	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs386810278	chr19:51416741-51416742	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116133149	chr19:51416742-51416743	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373562020	chr19:51416750-51416751	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs576922120	chr19:51416761-51416762	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200221804	chr19:51416777-51416778	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549729169	chr19:51416781-51416782	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370959505	chr19:51416799-51416800	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141286899	chr19:51416833-51416834	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554494768	chr19:51416836-51416837	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185952983	chr19:51416840-51416841	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs145018016	chr19:51416880-51416881	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369384695	chr19:51416885-51416886	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs62646528	chr19:51416906-51416907	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs567847918	chr19:51416954-51416955	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560138306	chr19:51417018-51417019	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs527966433	chr19:51417022-51417023	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs546438715	chr19:51417024-51417025	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564629500	chr19:51417026-51417027	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs373756498	chr19:51417029-51417030	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs111169297	chr19:51417034-51417035	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549980495	chr19:51417037-51417038	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs12980737	chr19:51417048-51417049	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs201502953	chr19:51417051-51417052	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs377407026	chr19:51417055-51417056	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs568201167	chr19:51417076-51417077	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs12980767	chr19:51417088-51417089	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200803163	chr19:51417092-51417093	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12981184	chr19:51417094-51417095	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529374230	chr19:51417101-51417102	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547385278	chr19:51417102-51417103	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs111164127	chr19:51417112-51417113	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
2	chr19:51415400-51416400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:51415600-51416400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:51415600-51416600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr19:51415600-51416600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51415800-51416400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:51415800-51416400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51415800-51416600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr19:51415800-51416600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:51416000-51416400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:51416000-51416400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:51416000-51416600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:51416000-51416600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:51416000-51416600	Bivalent Enhancer	HMEC	breast
15	chr19:51416000-51416800	Bivalent Enhancer	Esophagus	oesophagus
16	chr19:51416200-51416400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:51416200-51416400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr19:51416200-51416400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr19:51416200-51416400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:51416200-51416400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:51416200-51416400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:51416200-51416400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr19:51416200-51416800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr19:51416400-51416600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr19:51416400-51416600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr19:51416400-51416600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr19:51416400-51416600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:51416400-51416600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr19:51416400-51416800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:51416400-51416800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:51416400-51416800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr19:51416600-51416800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr19:51416600-51416800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr19:51416600-51416800	Bivalent Enhancer	HSMM	muscle

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