Variant report

Variant	esv3416089
Chromosome Location	chr19:21478962-21481860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554871526	chr19:21478971-21478972	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574623155	chr19:21478974-21478975	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58316586	chr19:21479038-21479039	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547500789	chr19:21479073-21479074	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531948973	chr19:21479148-21479149	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556731332	chr19:21479161-21479162	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576577854	chr19:21479174-21479175	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573074255	chr19:21479292-21479293	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368254218	chr19:21479308-21479309	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559147427	chr19:21479348-21479349	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533929133	chr19:21479360-21479361	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554098467	chr19:21479371-21479372	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370693421	chr19:21479386-21479387	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145275435	chr19:21479564-21479565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541436177	chr19:21479651-21479652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561657529	chr19:21479736-21479737	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530408055	chr19:21479752-21479753	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141143934	chr19:21479760-21479761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150475533	chr19:21479780-21479781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs635730	chr19:21479783-21479784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530104220	chr19:21479850-21479851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184403907	chr19:21479864-21479865	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2997225	chr19:21479941-21479942	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2968066	chr19:21479993-21479994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190327075	chr19:21480048-21480049	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs2928191	chr19:21480074-21480075	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9967646	chr19:21480101-21480102	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554651167	chr19:21480149-21480150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181936110	chr19:21480184-21480185	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536947185	chr19:21480315-21480316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556792674	chr19:21480479-21480480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576638523	chr19:21480480-21480481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545563856	chr19:21480669-21480670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371840583	chr19:21480705-21480706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569817320	chr19:21480710-21480711	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367623628	chr19:21480763-21480764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398034242	chr19:21480791-21480792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187436716	chr19:21480806-21480807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537250524	chr19:21480807-21480808	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572833425	chr19:21480825-21480826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138343572	chr19:21480851-21480852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561523180	chr19:21480988-21480989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190753939	chr19:21481031-21481032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544135472	chr19:21481089-21481090	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201898782	chr19:21481121-21481122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545712198	chr19:21481128-21481129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563937303	chr19:21481135-21481136	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181022627	chr19:21481136-21481137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374307847	chr19:21481162-21481163	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111608684	chr19:21481175-21481176	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21465400-21484600	ZNF genes & repeats	Liver	Liver
3	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:21470600-21484200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:21471200-21479800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:21471600-21479800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:21472000-21481800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:21472200-21487600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:21472200-21490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:21473600-21479400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:21473600-21479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:21473600-21487200	Weak transcription	Right Ventricle	heart
13	chr19:21473800-21479600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
15	chr19:21474000-21479200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
16	chr19:21474000-21481600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:21474000-21490600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:21474200-21479600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:21474200-21480800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:21474200-21482000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:21474400-21492400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
23	chr19:21475000-21480400	Weak transcription	Placenta	Placenta
24	chr19:21475200-21479800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr19:21475200-21481800	Weak transcription	Pancreas	Pancrea
26	chr19:21475200-21481800	ZNF genes & repeats	Dnd41	blood
27	chr19:21475200-21483600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:21475200-21484000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:21475200-21484200	Weak transcription	Fetal Thymus	thymus
30	chr19:21475200-21485400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:21475600-21479200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr19:21475600-21479200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr19:21475800-21479200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr19:21475800-21480000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:21475800-21481400	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:21476000-21479800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:21476000-21479800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:21476000-21480800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:21476000-21481200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:21476000-21482000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr19:21476000-21490400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:21476000-21490400	Weak transcription	Hela-S3	cervix
44	chr19:21476200-21479200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr19:21476200-21479600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr19:21476200-21488200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:21476400-21479400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr19:21476400-21479800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
49	chr19:21476400-21480000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:21476400-21480000	ZNF genes & repeats	Fetal Intestine Large	intestine

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