Variant report

Variant	esv2578515
Chromosome Location	chr19:21903057-21908480
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	GABPA	chr19:21905467-21905549	HepG2	liver:	n/a	n/a
2	NR2F2	chr19:21905075-21905494	K562	blood:	n/a	n/a
3	NR2F2	chr19:21904969-21905517	K562	blood:	n/a	n/a
4	PBX3	chr19:21905459-21905557	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:21906304-21906361	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:21907650-21907668	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:21905643-21910435	K562	blood:	n/a	n/a
8	ZNF274	chr19:21907945-21908103	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: 128 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149817922	chr19:21903057-21903058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200311371	chr19:21903079-21903080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191746447	chr19:21903092-21903093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199601964	chr19:21903243-21903244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111334395	chr19:21903324-21903325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112309513	chr19:21903497-21903498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535940767	chr19:21903875-21903876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371611563	chr19:21904123-21904124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62110798	chr19:21904174-21904175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375585038	chr19:21904507-21904508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368227183	chr19:21904528-21904529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556354393	chr19:21904555-21904556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372437049	chr19:21904781-21904782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376729752	chr19:21904854-21904855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368010316	chr19:21905028-21905029	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9749348	chr19:21905052-21905053	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
17	rs375958950	chr19:21905075-21905076	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368157106	chr19:21905148-21905149	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369848155	chr19:21905209-21905210	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557289548	chr19:21905343-21905344	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373526717	chr19:21905381-21905382	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375485872	chr19:21905422-21905423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9749475	chr19:21905479-21905480	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370816174	chr19:21905512-21905513	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368714479	chr19:21905537-21905538	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs9749518	chr19:21905538-21905539	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4809174	chr19:21905553-21905554	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201029943	chr19:21905564-21905565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201835335	chr19:21905565-21905566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201944253	chr19:21905566-21905567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200973118	chr19:21905567-21905568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115218875	chr19:21905585-21905586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371590182	chr19:21905616-21905617	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183574807	chr19:21905686-21905687	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs57484704	chr19:21905719-21905720	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558790355	chr19:21905730-21905731	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75191519	chr19:21905736-21905737	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189007199	chr19:21905769-21905770	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369409754	chr19:21905801-21905802	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4330044	chr19:21905838-21905839	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575026043	chr19:21905897-21905898	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144910218	chr19:21905941-21905942	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74167876	chr19:21905996-21905997	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572571346	chr19:21905999-21906000	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs193145493	chr19:21906023-21906024	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576625866	chr19:21906033-21906034	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564761216	chr19:21906039-21906040	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs76435777	chr19:21906162-21906163	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531985478	chr19:21906174-21906175	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183374456	chr19:21906175-21906176	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Intellectual disability	21811512	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21900800-21906200	Weak transcription	Dnd41	blood
2	chr19:21902800-21905600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:21902800-21906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr19:21903400-21907600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:21904800-21908800	Weak transcription	HSMM	muscle
6	chr19:21905000-21907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:21905000-21909600	Weak transcription	Fetal Brain Male	brain
8	chr19:21905200-21909600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:21905200-21909600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21905400-21909400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:21905600-21906200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:21905600-21947200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21906000-21909000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:21906200-21906400	ZNF genes & repeats	Ovary	ovary
15	chr19:21906200-21906600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:21906200-21906600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:21906200-21919400	ZNF genes & repeats	Dnd41	blood
18	chr19:21906200-21927600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:21906200-21949200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:21906400-21906600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr19:21906400-21906800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:21906400-21906800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:21906400-21907600	Weak transcription	Ovary	ovary
24	chr19:21906400-21909600	Weak transcription	Left Ventricle	heart
25	chr19:21906600-21906800	Weak transcription	Brain Germinal Matrix	brain
26	chr19:21906600-21908200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:21906600-21909400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:21906800-21907000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:21906800-21907000	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr19:21906800-21908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:21907000-21909200	Weak transcription	Brain Germinal Matrix	brain
32	chr19:21907000-21915800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr19:21907200-21908600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:21907200-21908800	Weak transcription	Placenta	Placenta
35	chr19:21907400-21909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:21907600-21907800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:21907600-21907800	ZNF genes & repeats	Ovary	ovary
38	chr19:21907600-21908000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:21907600-21908000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:21907600-21909000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:21907800-21909600	Weak transcription	Ovary	ovary
42	chr19:21907800-21911400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:21907800-21914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:21908000-21908800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:21908000-21909000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:21908000-21909000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:21908000-21909600	Weak transcription	Fetal Thymus	thymus
48	chr19:21908000-21920400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:21908200-21911200	ZNF genes & repeats	Fetal Brain Female	brain
50	chr19:21908200-21912000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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