Variant report

Variant	nsv961216
Chromosome Location	chr19:40025191-40026552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40025426-40025430	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:40026047-40026061	HepG2	liver:	n/a	n/a
3	SIN3AK20	chr19:40022173-40025671	PANC-1	pancreas:	n/a	n/a
4	TCF7L2	chr19:40025184-40025274	Hela-S3	cervix:	n/a	n/a
5	TCF7L2	chr19:40025001-40025354	PANC-1	pancreas:	n/a	chr19:40025166-40025173 chr19:40025166-40025175

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40025600-40025650	RPTEC	kidney:	n/a
2	chr19:40025600-40025650	GM19239	blood:	n/a
3	chr19:40025600-40025650	HNPCEpiC	eye:	n/a
4	chr19:40025600-40025650	HCF	heart:	n/a
5	chr19:40025600-40025650	NH-A	brain:	n/a
6	chr19:40025600-40025650	U87	brain:	n/a
7	chr19:40025600-40025650	BE2_C	brain:	n/a
8	chr19:40025600-40025650	SK-N-SH	brain:	n/a
9	chr19:40025600-40025650	HUVEC	blood vessel:	n/a
10	chr19:40025600-40025650	CMK	blood:	n/a
11	chr19:40025600-40025650	H1-hESC	embryonic stem cell:	embryo
12	chr19:40025600-40025650	GM12892	blood:	n/a
13	chr19:40025600-40025650	NHDF-neo	bronchial:	n/a
14	chr19:40025600-40025650	HCM	heart:	n/a
15	chr19:40025600-40025650	PFSK-1	brain:	n/a
16	chr19:40025600-40025650	K562	blood:	n/a
17	chr19:40025600-40025650	HepG2	liver:	n/a
18	chr19:40025600-40025650	GM12891	blood:	n/a
19	chr19:40025600-40025650	Hela-S3	cervix:	n/a
20	chr19:40025600-40025650	LNCaP	prostate:	n/a
21	chr19:40025600-40025650	SKMC	muscle:	n/a
22	chr19:40025600-40025650	SK-N-MC	brain:	n/a
23	chr19:40025600-40025650	MCF-7	breast:	n/a
24	chr19:40025600-40025650	HMEC	breast:	n/a
25	chr19:40025600-40025650	MCF10A-Er-Src	breast:	n/a
26	chr19:40025600-40025650	GM06990	blood:	n/a
27	chr19:40025600-40025650	AG09309	skin:	n/a
28	chr19:40025600-40025650	NHBE	bronchial:	n/a
29	chr19:40025600-40025650	HAEpiC	amniotic membrane:	n/a
30	chr19:40025600-40025650	ECC-1	luminal epithelium:	n/a
31	chr19:40025600-40025650	SAEC	small airway:	n/a
32	chr19:40025600-40025650	NB4	blood:	n/a
33	chr19:40025600-40025650	AG09319	gingival:	n/a
34	chr19:40025600-40025650	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:40025600-40025650	HEEpiC	esophagus:	n/a
36	chr19:40025600-40025650	A549	lung:	n/a
37	chr19:40025600-40025650	IMR90	lung:	fetal
38	chr19:40025600-40025650	AG04450	lung:	fetal
39	chr19:40025600-40025650	ovcar-3	ovarian:	n/a
40	chr19:40025600-40025650	PrEC	prostate:	n/a
41	chr19:40025600-40025650	HIPEpiC	eye:	n/a
42	chr19:40025600-40025650	PANC-1	pancreas:	n/a
43	chr19:40025600-40025650	Jurkat	blood:	n/a
44	chr19:40025600-40025650	HRE	kidney:	n/a
45	chr19:40025600-40025650	HRCEpiC	kidney:	n/a
46	chr19:40025600-40025650	AoSMC	blood vessel:	n/a
47	chr19:40025600-40025650	Caco-2	colon:	n/a
48	chr19:40025600-40025650	HCPEpiC	choroid plexus:	n/a
49	chr19:40025600-40025650	HRPEpiC	eye:	n/a
50	chr19:40025600-40025650	Hepatocyte	liver:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40009271..40012163-chr19:40025249..40026752,2	K562	blood:
2	chr19:39880299..39881893-chr19:40023517..40025617,2	K562	blood:
3	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
4	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
5	chr19:39934545..39937545-chr19:40023023..40025430,4	MCF-7	breast:
6	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SELV.1-3	chr19:40025103-40025661	NONHSAT066312

No data

Variant related genes	Relation type
EID2B	TF binding region
EID2B	CpG island
ENSG00000090924	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000176396	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7246072	chr19:40025197-40025198	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139319210	chr19:40025220-40025221	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs535935142	chr19:40025226-40025227	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs537179167	chr19:40025243-40025244	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs558467356	chr19:40025250-40025251	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs577006278	chr19:40025279-40025280	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs540874717	chr19:40025280-40025281	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs552799514	chr19:40025284-40025285	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs574414317	chr19:40025294-40025295	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs374323869	chr19:40025319-40025320	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs554346475	chr19:40025370-40025371	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs149974629	chr19:40025373-40025374	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs543937203	chr19:40025396-40025397	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs73553810	chr19:40025418-40025419	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568052275	chr19:40025423-40025424	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs376712484	chr19:40025464-40025465	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs547698832	chr19:40025501-40025502	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs145199639	chr19:40025504-40025505	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
19	rs368034517	chr19:40025536-40025537	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs530454170	chr19:40025538-40025539	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs370011074	chr19:40025544-40025545	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs373185707	chr19:40025546-40025547	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs368253184	chr19:40025549-40025550	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs569712924	chr19:40025550-40025551	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs139948028	chr19:40025560-40025561	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs552206944	chr19:40025600-40025601	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs117425400	chr19:40025604-40025605	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs534788490	chr19:40025605-40025606	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs73553812	chr19:40025771-40025772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550668985	chr19:40025813-40025814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12978311	chr19:40025826-40025827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554535477	chr19:40025859-40025860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143481972	chr19:40025864-40025865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186920646	chr19:40025865-40025866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542063026	chr19:40025869-40025870	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577286135	chr19:40025884-40025885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191562116	chr19:40025909-40025910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577092190	chr19:40025933-40025934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374605694	chr19:40025941-40025942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs146766108	chr19:40026018-40026019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182585521	chr19:40026022-40026023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563834405	chr19:40026072-40026073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11878949	chr19:40026088-40026089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186504997	chr19:40026121-40026122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551905416	chr19:40026191-40026192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570493165	chr19:40026239-40026240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs28535763	chr19:40026246-40026247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73930740	chr19:40026277-40026278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567960043	chr19:40026283-40026284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535278713	chr19:40026372-40026373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40023400-40025400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:40023600-40025200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:40023600-40025800	Enhancers	K562	blood
4	chr19:40023600-40027000	Weak transcription	Fetal Lung	lung
5	chr19:40023600-40028800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:40023600-40028800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:40023600-40029000	Weak transcription	NHDF-Ad	bronchial
8	chr19:40023600-40029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:40023600-40029200	Weak transcription	HSMM	muscle
10	chr19:40023600-40029800	Weak transcription	Aorta	Aorta
11	chr19:40023600-40029800	Weak transcription	Left Ventricle	heart
12	chr19:40023800-40028400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:40023800-40028400	Weak transcription	GM12878-XiMat	blood
14	chr19:40023800-40028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:40023800-40028800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40023800-40028800	Weak transcription	Brain Substantia Nigra	brain
17	chr19:40023800-40028800	Weak transcription	Fetal Brain Male	brain
18	chr19:40023800-40029000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:40023800-40029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:40023800-40029000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:40023800-40029000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:40023800-40029000	Weak transcription	HMEC	breast
23	chr19:40023800-40029000	Weak transcription	Osteobl	bone
24	chr19:40023800-40029200	Weak transcription	Primary B cells from cord blood	blood
25	chr19:40023800-40029200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:40023800-40029200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:40023800-40029200	Weak transcription	Adipose Nuclei	Adipose
28	chr19:40023800-40029200	Weak transcription	Fetal Brain Female	brain
29	chr19:40023800-40029200	Weak transcription	Fetal Heart	heart
30	chr19:40023800-40029200	Weak transcription	Fetal Kidney	kidney
31	chr19:40024000-40027400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:40024000-40028200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:40024000-40028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:40024000-40028400	Weak transcription	Brain Anterior Caudate	brain
35	chr19:40024000-40028400	Weak transcription	Brain Germinal Matrix	brain
36	chr19:40024000-40028400	Weak transcription	Dnd41	blood
37	chr19:40024000-40028600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:40024000-40028800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:40024000-40028800	Weak transcription	Liver	Liver
40	chr19:40024000-40028800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:40024000-40028800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:40024000-40029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:40024000-40029000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:40024000-40029000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:40024000-40029000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:40024000-40029000	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:40024000-40029000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:40024000-40029000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:40024000-40029200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:40024000-40029200	Weak transcription	Primary hematopoietic stem cells	blood

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