Variant report

Variant	nsv961217
Chromosome Location	chr19:40328338-40329937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:40328714-40328824	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:40328648-40328896	A549	lung:	n/a	n/a
3	CTCF	chr19:40329540-40329690	K562	blood:	n/a	n/a
4	CTCF	chr19:40328294-40328500	T-47D	breast:	n/a	n/a
5	CTCF	chr19:40329612-40329875	T-47D	breast:	n/a	n/a
6	POLR2A	chr19:40329849-40329855	K562	blood:	n/a	n/a
7	POLR2A	chr19:40328154-40328468	K562	blood:	n/a	n/a
8	POLR2A	chr19:40329422-40330007	K562	blood:	n/a	n/a
9	POLR2A	chr19:40329632-40329688	K562	blood:	n/a	n/a
10	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:40329421-40329961	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:40329027-40329117	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:40329934-40331063	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr19:40328024-40328550	SK-N-MC	brain:	n/a	n/a
15	SP1	chr19:40328183-40328546	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT1	chr19:40329857-40329860	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40323895..40326074-chr19:40326895..40329517,2	MCF-7	breast:
2	chr19:39925068..39927999-chr19:40329043..40331985,2	K562	blood:
3	chr19:40323585..40327109-chr19:40328017..40332842,7	MCF-7	breast:
4	chr19:40326700..40328345-chr19:40335181..40337020,2	MCF-7	breast:
5	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
6	chr19:40323873..40328898-chr19:40330848..40333267,4	MCF-7	breast:

No data

Variant related genes	Relation type
DYRK1B	TF binding region
FBL	TF binding region
ENSG00000105193	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000105204	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62621202	chr19:40328339-40328340	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369924506	chr19:40328352-40328353	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373070183	chr19:40328362-40328363	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377432606	chr19:40328441-40328442	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138238941	chr19:40328462-40328463	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs199674324	chr19:40328463-40328464	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149587207	chr19:40328470-40328471	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536491182	chr19:40328481-40328482	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112828701	chr19:40328485-40328486	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs555133834	chr19:40328490-40328491	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576844790	chr19:40328536-40328537	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544109316	chr19:40328560-40328561	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs616650	chr19:40328615-40328616	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs115556507	chr19:40328661-40328662	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139528447	chr19:40328727-40328728	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559187757	chr19:40328751-40328752	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs529794444	chr19:40328774-40328775	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs541691272	chr19:40328783-40328784	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs183681650	chr19:40328784-40328785	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs34269087	chr19:40328849-40328850	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs75704815	chr19:40328901-40328902	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs554964821	chr19:40328905-40328906	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201277870	chr19:40328907-40328908	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs199732331	chr19:40328908-40328909	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs60647887	chr19:40328924-40328925	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs398059727	chr19:40328925-40328926	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540264098	chr19:40328935-40328936	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs530590732	chr19:40328958-40328959	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs569442256	chr19:40328963-40328964	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570369722	chr19:40328964-40328965	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs532371162	chr19:40328978-40328979	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs547765340	chr19:40329012-40329013	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs187818398	chr19:40329027-40329028	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532441306	chr19:40329029-40329030	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs536737299	chr19:40329049-40329050	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs554894466	chr19:40329059-40329060	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs538894139	chr19:40329068-40329069	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs570287456	chr19:40329070-40329071	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs537611155	chr19:40329078-40329079	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs559302337	chr19:40329105-40329106	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs144231388	chr19:40329120-40329121	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs192991651	chr19:40329121-40329122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs182282520	chr19:40329147-40329148	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs619350	chr19:40329160-40329161	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186898040	chr19:40329169-40329170	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs117967160	chr19:40329178-40329179	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs151009464	chr19:40329211-40329212	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs73550469	chr19:40329262-40329263	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs564084081	chr19:40329312-40329313	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs140898361	chr19:40329347-40329348	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 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
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
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
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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40318000-40331800	Strong transcription	HepG2	liver
2	chr19:40324800-40336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:40325200-40330400	Strong transcription	HSMMtube	muscle
4	chr19:40325200-40330400	Strong transcription	NH-A	brain
5	chr19:40325200-40330600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:40325200-40331800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:40325200-40331800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40325200-40332200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:40325200-40332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:40325200-40332600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:40325200-40333000	Weak transcription	Right Atrium	heart
12	chr19:40325400-40329000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:40325400-40329000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:40325400-40329400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:40325400-40329600	Strong transcription	Esophagus	oesophagus
16	chr19:40325400-40330400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:40325400-40330400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:40325400-40330400	Strong transcription	HSMM	muscle
19	chr19:40325400-40330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:40325400-40330600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:40325400-40330800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:40325400-40330800	Strong transcription	Liver	Liver
23	chr19:40325400-40331000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:40325400-40331000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:40325400-40331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:40325400-40331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:40325400-40331000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:40325400-40331000	Strong transcription	Brain Anterior Caudate	brain
30	chr19:40325400-40331000	Strong transcription	Placenta	Placenta
31	chr19:40325400-40331000	Strong transcription	Rectal Smooth Muscle	rectum
32	chr19:40325400-40331000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:40325400-40331000	Strong transcription	HUVEC	blood vessel
34	chr19:40325400-40331000	Strong transcription	Osteobl	bone
35	chr19:40325400-40331200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:40325400-40331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:40325400-40331200	Strong transcription	Brain Germinal Matrix	brain
38	chr19:40325400-40331200	Strong transcription	Lung	lung
39	chr19:40325400-40331200	Strong transcription	NHDF-Ad	bronchial
40	chr19:40325400-40331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:40325400-40331400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr19:40325400-40331400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:40325400-40331400	Strong transcription	Spleen	Spleen
44	chr19:40325400-40331600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:40325400-40331600	Strong transcription	NHLF	lung
46	chr19:40325400-40331800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr19:40325400-40331800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:40325400-40331800	Strong transcription	Pancreas	Pancrea
49	chr19:40325400-40332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:40325400-40332200	Strong transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links