Variant report

Variant	nsv528817
Chromosome Location	chr19:56779041-56785408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:56782798-56782836	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr19:56782128-56782312	K562	blood:	n/a	n/a
3	CEBPB	chr19:56782158-56782338	K562	blood:	n/a	n/a
4	CTCF	chr19:56785130-56785139	NHEK	skin:	n/a	n/a
5	CTCF	chr19:56784954-56785031	Fibrobl	skin:	n/a	n/a
6	CTCF	chr19:56785100-56785126	NHEK	skin:	n/a	n/a
7	EP300	chr19:56782161-56782463	K562	blood:	n/a	n/a
8	FOS	chr19:56784912-56785537	HUVEC	blood vessel:	n/a	chr19:56785141-56785152
9	FOS	chr19:56782926-56782995	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr19:56783859-56784208	SH-SY5Y	brain:	n/a	n/a
11	GATA2	chr19:56783913-56784318	HUVEC	blood vessel:	n/a	n/a
12	GATA2	chr19:56784918-56785565	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr19:56782080-56782664	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr19:56783915-56784160	MCF-7	breast:	n/a	n/a
15	GATA3	chr19:56782003-56782602	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr19:56783694-56784272	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr19:56783678-56784292	SK-N-SH	brain:	n/a	n/a
18	JUN	chr19:56784981-56785425	HUVEC	blood vessel:	n/a	n/a
19	JUND	chr19:56782170-56782472	K562	blood:	n/a	n/a
20	MAX	chr19:56784900-56785272	SK-N-SH	brain:	n/a	n/a
21	MAX	chr19:56782063-56782457	NB4	blood:	n/a	n/a
22	MYC	chr19:56784952-56785297	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr19:56781926-56783021	HL-60	blood:	n/a	n/a
24	POLR2A	chr19:56783863-56783893	K562	blood:	n/a	n/a
25	POLR2A	chr19:56784273-56784411	K562	blood:	n/a	n/a
26	POLR2A	chr19:56782481-56782575	K562	blood:	n/a	n/a
27	POLR2A	chr19:56785076-56785267	K562	blood:	n/a	n/a
28	POLR2A	chr19:56782012-56782886	HL-60	blood:	n/a	n/a
29	POLR2A	chr19:56784815-56785421	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr19:56782702-56783212	K562	blood:	n/a	n/a
31	RCOR1	chr19:56784766-56785381	IMR90	lung:	n/a	n/a
32	RCOR1	chr19:56782174-56782495	K562	blood:	n/a	n/a
33	REST	chr19:56785116-56785444	PFSK-1	brain:	n/a	n/a
34	SIN3AK20	chr19:56783714-56784398	MCF-7	breast:	n/a	n/a
35	SPI1	chr19:56781987-56782386	HL-60	blood:	n/a	n/a
36	SPI1	chr19:56781919-56782570	HL-60	blood:	n/a	n/a
37	TEAD4	chr19:56782057-56782611	K562	blood:	n/a	n/a
38	WRNIP1	chr19:56785323-56785365	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56773048..56775014-chr19:56779504..56781484,2	K562	blood:
2	chr19:56777403..56778975-chr19:56779512..56781342,2	MCF-7	breast:
3	chr19:56750344..56752392-chr19:56783866..56786080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267710	TF binding region
ZSCAN5A	TF binding region
ENSG00000267908	chromatin interactions
ENSG00000131848	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4801696	chr19:56779041-56779042	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148916064	chr19:56779065-56779066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534404819	chr19:56779097-56779098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185328700	chr19:56779134-56779135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557864183	chr19:56779138-56779139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375914571	chr19:56779154-56779155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190179891	chr19:56779167-56779168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142815564	chr19:56779173-56779174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546069770	chr19:56779229-56779230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193126694	chr19:56779231-56779232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117850936	chr19:56779242-56779243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531805272	chr19:56779336-56779337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371820393	chr19:56779345-56779346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185571206	chr19:56779354-56779355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188220439	chr19:56779378-56779379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151046342	chr19:56779379-56779380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531036054	chr19:56779386-56779387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180707907	chr19:56779389-56779390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111892764	chr19:56779399-56779400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567710221	chr19:56779449-56779450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140381845	chr19:56779489-56779490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577565488	chr19:56779505-56779506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145610240	chr19:56779532-56779533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546535942	chr19:56779537-56779538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138016114	chr19:56779557-56779558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530482743	chr19:56779634-56779635	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373040320	chr19:56779668-56779669	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375394664	chr19:56779669-56779670	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141019448	chr19:56779670-56779671	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376972677	chr19:56779825-56779826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62122529	chr19:56779827-56779828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577281039	chr19:56779883-56779884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536755159	chr19:56780062-56780063	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144633282	chr19:56780070-56780071	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77394828	chr19:56780084-56780085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs755058	chr19:56780109-56780110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs55700397	chr19:56780164-56780165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573471892	chr19:56780228-56780229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185485260	chr19:56780229-56780230	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565480820	chr19:56780272-56780273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377619366	chr19:56780287-56780288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530920536	chr19:56780295-56780296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138481335	chr19:56780351-56780352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149235806	chr19:56780363-56780364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4494653	chr19:56780421-56780422	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566649086	chr19:56780445-56780446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546699967	chr19:56780458-56780459	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79335118	chr19:56780465-56780466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188739147	chr19:56780494-56780495	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546470253	chr19:56780500-56780501	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:56753000-56809000	Weak transcription	Gastric	stomach
4	chr19:56764200-56788400	Weak transcription	A549	lung
5	chr19:56764400-56788400	Weak transcription	Fetal Muscle Leg	muscle
6	chr19:56764400-56788600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:56764400-56798600	Weak transcription	Placenta	Placenta
8	chr19:56764600-56788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:56764600-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:56765000-56788400	Weak transcription	Brain Anterior Caudate	brain
12	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:56767400-56782400	Weak transcription	Fetal Kidney	kidney
14	chr19:56768400-56782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:56768600-56794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:56768800-56783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:56769000-56782200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:56769200-56788400	Weak transcription	Adipose Nuclei	Adipose
19	chr19:56770000-56782400	Weak transcription	Fetal Stomach	stomach
20	chr19:56770200-56795200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:56770200-56799400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:56770400-56804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:56771200-56787200	Weak transcription	Liver	Liver
24	chr19:56771200-56788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:56771200-56792000	Weak transcription	Aorta	Aorta
26	chr19:56771400-56817200	Weak transcription	Fetal Brain Male	brain
27	chr19:56771600-56807000	Weak transcription	Right Ventricle	heart
28	chr19:56772000-56788400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:56772400-56788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:56772800-56782200	Weak transcription	HSMM	muscle
31	chr19:56772800-56784400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:56772800-56788400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:56772800-56807600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:56773000-56788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:56773000-56807400	Weak transcription	Esophagus	oesophagus
37	chr19:56773600-56790000	Weak transcription	Primary B cells from cord blood	blood
38	chr19:56774200-56788400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr19:56774600-56779600	Enhancers	Fetal Heart	heart
40	chr19:56775000-56783800	Weak transcription	Primary T cells from cord blood	blood
41	chr19:56775000-56784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:56775800-56815600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:56776000-56782200	Weak transcription	K562	blood
44	chr19:56776200-56781000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr19:56776400-56781200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr19:56777000-56792800	Weak transcription	Fetal Intestine Large	intestine
47	chr19:56777800-56782400	Weak transcription	Fetal Lung	lung
48	chr19:56778400-56779400	Weak transcription	Left Ventricle	heart
49	chr19:56779000-56781400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:56779400-56779800	Enhancers	Left Ventricle	heart

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