Variant report

Variant	nsv978754
Chromosome Location	chr19:51705011-51710491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51706057-51706094	Lung_OC	lung:	n/a	n/a
2	E2F6	chr19:51708794-51708951	K562	blood:	n/a	n/a
3	MAX	chr19:51705010-51705397	NB4	blood:	n/a	chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705195-51705210 chr19:51705198-51705207 chr19:51705198-51705208 chr19:51705200-51705209 chr19:51705197-51705210 chr19:51705197-51705212 chr19:51705201-51705208 chr19:51705199-51705208 chr19:51705197-51705210 chr19:51705199-51705209 chr19:51705199-51705209
4	MAX	chr19:51708725-51709001	K562	blood:	n/a	n/a
5	MAX	chr19:51705054-51705343	K562	blood:	n/a	chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705195-51705210 chr19:51705198-51705207 chr19:51705198-51705208 chr19:51705200-51705209 chr19:51705197-51705210 chr19:51705197-51705212 chr19:51705201-51705208 chr19:51705199-51705208 chr19:51705197-51705210 chr19:51705199-51705209 chr19:51705199-51705209
6	MYC	chr19:51704989-51705323	NB4	blood:	n/a	chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705198-51705209 chr19:51705197-51705210 chr19:51705195-51705210 chr19:51705198-51705207 chr19:51705198-51705208 chr19:51705200-51705209 chr19:51705197-51705210 chr19:51705197-51705212 chr19:51705201-51705208 chr19:51705199-51705208 chr19:51705197-51705210 chr19:51705199-51705209 chr19:51705199-51705209
7	POLR2A	chr19:51706295-51706331	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51697519..51699682-chr19:51703566..51706555,2	K562	blood:
2	chr19:51704918..51706630-chr19:51708634..51710252,2	MCF-7	breast:
3	chr19:51706628..51708149-chr19:51708422..51711343,2	MCF-7	breast:
4	chr19:51708580..51710993-chr19:51738763..51740760,2	K562	blood:
5	chr19:51704918..51706630-chr19:51708634..51710252,2	MCF-7	breast:
6	chr19:51706628..51708149-chr19:51708422..51711343,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8074	chr19:51710195-51710218	MIMAT0031001

Variant related genes	Relation type
SIGLEC22P	TF binding region
ENSG00000268652	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs552812192	chr19:51705020-51705021	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7256201	chr19:51705039-51705040	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
3	rs538398080	chr19:51705063-51705064	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557026579	chr19:51705118-51705119	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190721302	chr19:51705127-51705128	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542638167	chr19:51705128-51705129	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115070241	chr19:51705143-51705144	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572765930	chr19:51705165-51705166	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540951245	chr19:51705177-51705178	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77768819	chr19:51705189-51705190	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532763139	chr19:51705253-51705254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544810485	chr19:51705376-51705377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374033169	chr19:51705381-51705382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563045773	chr19:51705422-51705423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530115411	chr19:51705450-51705451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181469808	chr19:51705469-51705470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10419501	chr19:51705534-51705535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566767343	chr19:51705539-51705540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527650175	chr19:51705553-51705554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374718834	chr19:51705563-51705564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185717371	chr19:51705594-51705595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371358502	chr19:51705648-51705649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148498726	chr19:51705665-51705666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533614049	chr19:51705701-51705702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56293677	chr19:51705730-51705731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191373583	chr19:51705786-51705787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183240807	chr19:51705792-51705793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568972141	chr19:51705807-51705808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527722881	chr19:51705814-51705815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535982430	chr19:51705860-51705861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144516159	chr19:51705871-51705872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187718974	chr19:51705910-51705911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190956642	chr19:51705953-51705954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545707342	chr19:51705979-51705980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559334807	chr19:51706050-51706051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577609471	chr19:51706055-51706056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544848499	chr19:51706065-51706066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562925506	chr19:51706076-51706077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10425405	chr19:51706098-51706099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564002899	chr19:51706121-51706122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146622280	chr19:51706145-51706146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114260169	chr19:51706162-51706163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183367639	chr19:51706163-51706164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373964179	chr19:51706169-51706170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28684896	chr19:51706222-51706223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561368805	chr19:51706249-51706250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571251088	chr19:51706289-51706290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35674327	chr19:51706357-51706358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141372791	chr19:51706362-51706363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550819796	chr19:51706363-51706364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51696400-51705400	Weak transcription	Right Atrium	heart
2	chr19:51704400-51705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:51704600-51705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:51704600-51705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:51704600-51706800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr19:51704800-51709000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:51704800-51715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51705000-51705200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:51705000-51706600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:51705200-51706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:51705600-51706000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:51705600-51706000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:51706000-51708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr19:51706000-51708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:51706400-51708000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:51706400-51708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:51706600-51707600	Enhancers	Primary hematopoietic stem cells	blood
18	chr19:51706800-51708000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr19:51707600-51707800	Enhancers	Lung	lung
20	chr19:51707600-51713600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:51708000-51709200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:51708000-51710600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:51708000-51713400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:51708000-51713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:51708000-51713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:51708600-51710200	Enhancers	Fetal Brain Male	brain
27	chr19:51709000-51713200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr19:51709200-51712600	Weak transcription	Monocytes-CD14+_RO01746	blood

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