Variant report

Variant	esv3422606
Chromosome Location	chr19:56128240-56129238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56127738..56129538-chr19:56153741..56155365,2	MCF-7	breast:
2	chr19:56129094..56130603-chr19:56130975..56133243,2	K562	blood:
3	chr19:56116288..56120130-chr19:56126715..56130598,5	MCF-7	breast:
4	chr19:56121889..56123524-chr19:56127814..56130682,2	K562	blood:
5	chr19:56128217..56130224-chr19:56143870..56146806,2	K562	blood:
6	chr19:56123945..56128950-chr19:56130054..56135521,12	K562	blood:
7	chr19:56116914..56119642-chr19:56129157..56131500,3	K562	blood:
8	chr19:56122149..56126669-chr19:56127522..56130662,5	MCF-7	breast:
9	chr19:56127839..56129472-chr19:56129561..56131065,2	MCF-7	breast:
10	chr19:56109832..56113599-chr19:56126942..56132164,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171425	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000179943	chromatin interactions
ENSG00000171443	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141356516	chr19:56128241-56128242	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs73058308	chr19:56128243-56128244	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558686477	chr19:56128261-56128262	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs575360282	chr19:56128340-56128341	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs373308103	chr19:56128396-56128397	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs538099832	chr19:56128398-56128399	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs554952941	chr19:56128409-56128410	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs182261736	chr19:56128422-56128423	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs145627605	chr19:56128435-56128436	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs145085059	chr19:56128457-56128458	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs376987403	chr19:56128484-56128485	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs551323437	chr19:56128559-56128560	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs576843974	chr19:56128564-56128565	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs116471374	chr19:56128731-56128732	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs563056230	chr19:56128815-56128816	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs78706081	chr19:56128871-56128872	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs547373961	chr19:56128880-56128881	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs374503600	chr19:56128894-56128895	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs73615038	chr19:56128895-56128896	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527660690	chr19:56128914-56128915	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs114365257	chr19:56128928-56128929	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs73058310	chr19:56128932-56128933	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539883999	chr19:56128937-56128938	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs141566456	chr19:56128986-56128987	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs150409766	chr19:56128997-56128998	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs554888681	chr19:56129027-56129028	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs138143093	chr19:56129034-56129035	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs111566976	chr19:56129074-56129075	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs553770444	chr19:56129097-56129098	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs576771191	chr19:56129101-56129102	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs186951706	chr19:56129176-56129177	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs549565259	chr19:56129187-56129188	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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
Breast cancer	21509527	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56118200-56135000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:56118400-56128800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:56118400-56134400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56118400-56135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:56118400-56135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:56118400-56135200	Weak transcription	HUVEC	blood vessel
7	chr19:56118600-56128800	Weak transcription	Stomach Mucosa	stomach
8	chr19:56118600-56129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:56118600-56129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:56118600-56131600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:56118600-56131800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:56118600-56134800	Strong transcription	Fetal Intestine Small	intestine
13	chr19:56118600-56134800	Weak transcription	K562	blood
14	chr19:56118600-56135200	Weak transcription	Fetal Brain Male	brain
15	chr19:56118800-56129400	Strong transcription	Thymus	Thymus
16	chr19:56118800-56131000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:56119600-56134000	Weak transcription	HepG2	liver
18	chr19:56119600-56134800	Weak transcription	Hela-S3	cervix
19	chr19:56120200-56129400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:56120400-56129400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:56120800-56129200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:56120800-56129400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:56121000-56129200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:56121200-56135000	Weak transcription	NH-A	brain
25	chr19:56121400-56129400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:56121400-56129800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:56121600-56129600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:56121600-56130600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:56121600-56131600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:56121600-56134000	Strong transcription	Fetal Brain Female	brain
31	chr19:56121600-56135800	Weak transcription	NHDF-Ad	bronchial
32	chr19:56121800-56128800	Weak transcription	Fetal Kidney	kidney
33	chr19:56121800-56130400	Strong transcription	Fetal Stomach	stomach
34	chr19:56122200-56135800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:56122600-56128800	Weak transcription	A549	lung
36	chr19:56122800-56135000	Weak transcription	HSMM	muscle
37	chr19:56123000-56129400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:56123400-56129200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr19:56123400-56129600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:56123600-56128800	Weak transcription	Primary T cells from cord blood	blood
41	chr19:56123800-56134600	Strong transcription	Brain Germinal Matrix	brain
42	chr19:56124000-56128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:56124000-56129200	Strong transcription	Dnd41	blood
44	chr19:56124000-56129600	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:56124000-56132200	Weak transcription	Brain Angular Gyrus	brain
46	chr19:56124200-56129200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:56124600-56128400	Genic enhancers	Spleen	Spleen
48	chr19:56124600-56128800	Weak transcription	Primary B cells from cord blood	blood
49	chr19:56124600-56129400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:56124600-56132000	Weak transcription	Right Atrium	heart

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