Variant report

Variant	esv3329962
Chromosome Location	chr21:14342320-14347695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 821 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201650975	chr21:14342322-14342323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143242496	chr21:14342331-14342332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561268721	chr21:14342332-14342333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530355281	chr21:14342333-14342334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146239882	chr21:14342334-14342335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150582078	chr21:14342336-14342337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147772383	chr21:14342337-14342338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147926431	chr21:14342341-14342342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141098083	chr21:14342345-14342346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377545131	chr21:14342346-14342347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138833966	chr21:14342347-14342348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149501408	chr21:14342348-14342349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141387888	chr21:14342349-14342350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192711308	chr21:14342356-14342357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199636578	chr21:14342370-14342371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563747157	chr21:14342385-14342386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7276090	chr21:14342401-14342402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373820167	chr21:14342402-14342403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532452910	chr21:14342418-14342419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184728072	chr21:14342421-14342422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113243055	chr21:14342425-14342426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150022907	chr21:14342429-14342430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149215821	chr21:14342430-14342431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140482237	chr21:14342431-14342432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140991733	chr21:14342434-14342435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58636317	chr21:14342446-14342447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552648741	chr21:14342456-14342457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571430157	chr21:14342467-14342468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199823980	chr21:14342471-14342472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62223165	chr21:14342474-14342475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527501740	chr21:14342477-14342478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201464020	chr21:14342491-14342492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62223166	chr21:14342500-14342501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547638770	chr21:14342501-14342502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193171324	chr21:14342508-14342509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185064509	chr21:14342510-14342511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200373135	chr21:14342515-14342516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536592222	chr21:14342519-14342520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201016336	chr21:14342529-14342530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555886155	chr21:14342530-14342531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149320456	chr21:14342533-14342534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370135290	chr21:14342537-14342538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147140412	chr21:14342539-14342540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150662910	chr21:14342543-14342544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569639328	chr21:14342553-14342554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183961583	chr21:14342555-14342556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538315005	chr21:14342556-14342557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113521926	chr21:14342564-14342565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558246557	chr21:14342568-14342569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371302896	chr21:14342577-14342578	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:55 , 50 per page) page: 1 2

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	chr21:14338800-14342400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr21:14339400-14359000	Weak transcription	K562	blood
12	chr21:14339600-14343200	Weak transcription	NH-A	brain
13	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
17	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr21:14341400-14342800	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr21:14342200-14342400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:14342200-14342400	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr21:14342200-14342400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
25	chr21:14342200-14342600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr21:14342400-14342600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
27	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
32	chr21:14343200-14343600	Active TSS	Right Atrium	heart
33	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
34	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
35	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
36	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
37	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
38	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
39	chr21:14343400-14343600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
40	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
44	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
45	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
48	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
49	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta

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