Variant report

Variant	nsv963026
Chromosome Location	chr19:21906418-21906918
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	POLR2A	chr19:21905643-21910435	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21902370..21903935-chr19:21904955..21907289,2	K562	blood:

Variant related genes	Relation type
VN1R84P	TF binding region
ENSG00000268117	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3795247	chr19:21906428-21906429	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565656621	chr19:21906458-21906459	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149023502	chr19:21906466-21906467	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550259720	chr19:21906496-21906497	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538126823	chr19:21906596-21906597	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111468221	chr19:21906612-21906613	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556628009	chr19:21906615-21906616	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574863094	chr19:21906651-21906652	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34504742	chr19:21906655-21906656	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554204786	chr19:21906673-21906674	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79681071	chr19:21906685-21906686	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546484529	chr19:21906718-21906719	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186628419	chr19:21906747-21906748	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535258458	chr19:21906761-21906762	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191522008	chr19:21906787-21906788	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576370179	chr19:21906799-21906800	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543685054	chr19:21906812-21906813	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369069519	chr19:21906814-21906815	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562176753	chr19:21906816-21906817	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184087745	chr19:21906836-21906837	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188824115	chr19:21906880-21906881	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560144208	chr19:21906911-21906912	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146909559	chr19:21906918-21906919	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21903400-21907600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:21904800-21908800	Weak transcription	HSMM	muscle
3	chr19:21905000-21907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21905000-21909600	Weak transcription	Fetal Brain Male	brain
5	chr19:21905200-21909600	Weak transcription	Brain Angular Gyrus	brain
6	chr19:21905200-21909600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:21905400-21909400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:21905600-21947200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21906000-21909000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:21906200-21906600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:21906200-21906600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:21906200-21919400	ZNF genes & repeats	Dnd41	blood
13	chr19:21906200-21927600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:21906200-21949200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:21906400-21906600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr19:21906400-21906800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:21906400-21906800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:21906400-21907600	Weak transcription	Ovary	ovary
19	chr19:21906400-21909600	Weak transcription	Left Ventricle	heart
20	chr19:21906600-21906800	Weak transcription	Brain Germinal Matrix	brain
21	chr19:21906600-21908200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:21906600-21909400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:21906800-21907000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:21906800-21907000	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr19:21906800-21908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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