Variant report

Variant	esv3451535
Chromosome Location	chr21:14342486-14344129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 293 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201464020	chr21:14342491-14342492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62223166	chr21:14342500-14342501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547638770	chr21:14342501-14342502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193171324	chr21:14342508-14342509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185064509	chr21:14342510-14342511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200373135	chr21:14342515-14342516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536592222	chr21:14342519-14342520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201016336	chr21:14342529-14342530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555886155	chr21:14342530-14342531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149320456	chr21:14342533-14342534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370135290	chr21:14342537-14342538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147140412	chr21:14342539-14342540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150662910	chr21:14342543-14342544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569639328	chr21:14342553-14342554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183961583	chr21:14342555-14342556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538315005	chr21:14342556-14342557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113521926	chr21:14342564-14342565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558246557	chr21:14342568-14342569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371302896	chr21:14342577-14342578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4485633	chr21:14342586-14342587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112557282	chr21:14342589-14342590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs464374	chr21:14342608-14342609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11088639	chr21:14342610-14342611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188297893	chr21:14342615-14342616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111996448	chr21:14342616-14342617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554781067	chr21:14342640-14342641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4487166	chr21:14342642-14342643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143819052	chr21:14342643-14342644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575028610	chr21:14342644-14342645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544098432	chr21:14342653-14342654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144177865	chr21:14342657-14342658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143309067	chr21:14342659-14342660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563493596	chr21:14342661-14342662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146985679	chr21:14342673-14342674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532551409	chr21:14342675-14342676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372358163	chr21:14342676-14342677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376795463	chr21:14342677-14342678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150506289	chr21:14342679-14342680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148433646	chr21:14342682-14342683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546288676	chr21:14342684-14342685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139756666	chr21:14342686-14342687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559862053	chr21:14342687-14342688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151033056	chr21:14342688-14342689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75449283	chr21:14342691-14342692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369788857	chr21:14342698-14342699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78699207	chr21:14342699-14342700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372676735	chr21:14342700-14342701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141648095	chr21:14342714-14342715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75543853	chr21:14342715-14342716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76129648	chr21:14342719-14342720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14345600	ZNF genes & repeats	Liver	Liver
2	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr21:14339400-14359000	Weak transcription	K562	blood
11	chr21:14339600-14343200	Weak transcription	NH-A	brain
12	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
16	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr21:14341400-14342800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr21:14342200-14342600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr21:14342400-14342600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
23	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
28	chr21:14343200-14343600	Active TSS	Right Atrium	heart
29	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
30	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
31	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
33	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr21:14343400-14343600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung

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