Variant report

Variant	nsv828644
Chromosome Location	chr19:56183529-56184218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:56183623-56184100	K562	blood:	n/a	n/a
2	ATF1	chr19:56183818-56184051	K562	blood:	n/a	n/a
3	CCNT2	chr19:56183785-56184093	K562	blood:	n/a	n/a
4	CEBPB	chr19:56183324-56184434	K562	blood:	n/a	n/a
5	CEBPD	chr19:56183678-56184162	K562	blood:	n/a	n/a
6	CEBPD	chr19:56183662-56184110	K562	blood:	n/a	n/a
7	CTCF	chr19:56183460-56183610	BJ	skin:	n/a	n/a
8	EBF1	chr19:56183758-56184050	GM12878	blood:	n/a	chr19:56183937-56183948
9	EBF1	chr19:56183879-56183963	GM12878	blood:	n/a	chr19:56183937-56183948
10	EBF1	chr19:56183802-56184010	GM12878	blood:	n/a	chr19:56183937-56183948
11	EP300	chr19:56183766-56184164	K562	blood:	n/a	n/a
12	GATA1	chr19:56183504-56184175	K562	blood:	n/a	n/a
13	GATA2	chr19:56183725-56184121	K562	blood:	n/a	n/a
14	HMGN3	chr19:56183809-56183990	K562	blood:	n/a	n/a
15	IRF1	chr19:56183723-56184091	K562	blood:	n/a	n/a
16	JUND	chr19:56183786-56184080	K562	blood:	n/a	n/a
17	MAZ	chr19:56183738-56184068	K562	blood:	n/a	n/a
18	MXI1	chr19:56183877-56184060	K562	blood:	n/a	n/a
19	MYC	chr19:56183824-56184023	K562	blood:	n/a	n/a
20	MYC	chr19:56183821-56184099	K562	blood:	n/a	n/a
21	NR2F2	chr19:56183755-56184064	K562	blood:	n/a	n/a
22	PML	chr19:56183761-56184124	K562	blood:	n/a	n/a
23	POLR2A	chr19:56183812-56183815	K562	blood:	n/a	n/a
24	POLR2A	chr19:56184088-56184193	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:56183753-56183963	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:56183657-56183669	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:56183830-56184045	K562	blood:	n/a	n/a
28	RCOR1	chr19:56183736-56184158	K562	blood:	n/a	n/a
29	RCOR1	chr19:56183724-56184069	K562	blood:	n/a	n/a
30	STAT3	chr19:56183642-56183707	MCF10A-Er-Src	breast:	n/a	n/a
31	TAL1	chr19:56183761-56184161	K562	blood:	n/a	n/a
32	TBL1XR1	chr19:56183703-56184122	K562	blood:	n/a	n/a
33	TBL1XR1	chr19:56183805-56184053	K562	blood:	n/a	n/a
34	TEAD4	chr19:56183706-56184147	K562	blood:	n/a	n/a
35	TEAD4	chr19:56183699-56184147	K562	blood:	n/a	n/a
36	ZMIZ1	chr19:56183795-56184075	K562	blood:	n/a	n/a
37	ZNF384	chr19:56183753-56184360	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56182358..56184024-chr19:56184712..56187207,2	MCF-7	breast:
2	chr19:56172205..56174377-chr19:56183143..56185111,2	MCF-7	breast:
3	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
4	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:
5	chr19:56181298..56183731-chr19:59054697..59056845,2	K562	blood:

No data

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000130726	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000264910	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566739956	chr19:56183541-56183542	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs538592768	chr19:56183570-56183571	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs547049393	chr19:56183584-56183585	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs552071892	chr19:56183599-56183600	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs537731553	chr19:56183608-56183609	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs369034619	chr19:56183609-56183610	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs584405	chr19:56183619-56183620	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10402618	chr19:56183683-56183684	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554200386	chr19:56183686-56183687	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs370534346	chr19:56183724-56183725	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs192644579	chr19:56183743-56183744	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs534400197	chr19:56183753-56183754	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs681433	chr19:56183777-56183778	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577449698	chr19:56183786-56183787	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs184943634	chr19:56183815-56183816	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs563179250	chr19:56183828-56183829	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs377218682	chr19:56183875-56183876	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs114026618	chr19:56183894-56183895	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs148949211	chr19:56183944-56183945	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs539688612	chr19:56183950-56183951	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs534294190	chr19:56184009-56184010	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs71368863	chr19:56184026-56184027	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562210974	chr19:56184036-56184037	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs370554381	chr19:56184043-56184044	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs74179629	chr19:56184112-56184113	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527814200	chr19:56184119-56184120	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546760598	chr19:56184126-56184127	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs143149437	chr19:56184154-56184155	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543681324	chr19:56184174-56184175	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532195185	chr19:56184190-56184191	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs368185780	chr19:56184215-56184216	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 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:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56170200-56184000	Strong transcription	Primary T cells from cord blood	blood
3	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
4	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
6	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
8	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
10	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
11	chr19:56171200-56184600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:56171400-56185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr19:56172000-56185000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:56172200-56185000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:56172800-56184800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
20	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
21	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
22	chr19:56179800-56184800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:56179800-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:56179800-56185400	Strong transcription	NHEK	skin
25	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
26	chr19:56181200-56184200	Strong transcription	Hela-S3	cervix
27	chr19:56181600-56184000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:56181600-56184000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:56181600-56185800	Genic enhancers	Liver	Liver
30	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
31	chr19:56182000-56183600	Weak transcription	NH-A	brain
32	chr19:56182000-56183800	Weak transcription	HUVEC	blood vessel
33	chr19:56182000-56184000	Strong transcription	Colonic Mucosa	Colon
34	chr19:56182000-56184200	Strong transcription	Lung	lung
35	chr19:56182000-56184400	Strong transcription	HepG2	liver
36	chr19:56182000-56184800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:56182000-56184800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:56182000-56184800	Weak transcription	Fetal Lung	lung
39	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:56182000-56185600	Weak transcription	HSMM	muscle
46	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine

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