Variant report

Variant	esv3367259
Chromosome Location	chr21:14339247-14349344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1509 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535151141	chr21:14339249-14339250	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201015836	chr21:14339252-14339253	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547602704	chr21:14339255-14339256	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567516985	chr21:14339258-14339259	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs202047212	chr21:14339261-14339262	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62222550	chr21:14339262-14339263	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200437406	chr21:14339263-14339264	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201927850	chr21:14339269-14339270	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62222551	chr21:14339278-14339279	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369307746	chr21:14339282-14339283	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182393456	chr21:14339286-14339287	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374384520	chr21:14339287-14339288	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186489163	chr21:14339288-14339289	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538278269	chr21:14339293-14339294	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372790476	chr21:14339302-14339303	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572030393	chr21:14339310-14339311	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540768621	chr21:14339338-14339339	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11087950	chr21:14339361-14339362	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs462917	chr21:14339377-14339378	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112111153	chr21:14339381-14339382	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112840283	chr21:14339393-14339394	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs111589980	chr21:14339397-14339398	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561098398	chr21:14339401-14339402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78194907	chr21:14339429-14339430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75510619	chr21:14339433-14339434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112278506	chr21:14339443-14339444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113002557	chr21:14339445-14339446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111661486	chr21:14339446-14339447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113674076	chr21:14339447-14339448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574701347	chr21:14339461-14339462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543672824	chr21:14339474-14339475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563848521	chr21:14339484-14339485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369292198	chr21:14339486-14339487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78443294	chr21:14339488-14339489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532865839	chr21:14339494-14339495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552271410	chr21:14339497-14339498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113550542	chr21:14339502-14339503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74847148	chr21:14339504-14339505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7278797	chr21:14339517-14339518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559736043	chr21:14339523-14339524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78467815	chr21:14339529-14339530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528571367	chr21:14339541-14339542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548707573	chr21:14339542-14339543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs79381334	chr21:14339552-14339553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372807796	chr21:14339558-14339559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77629046	chr21:14339559-14339560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs76040491	chr21:14339560-14339561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs80036652	chr21:14339569-14339570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567430835	chr21:14339582-14339583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78981146	chr21:14339586-14339587	Weak transcription ZNF genes & repeats	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14339400	ZNF genes & repeats	A549	lung
2	chr21:14338200-14345600	ZNF genes & repeats	Liver	Liver
3	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr21:14338400-14339600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:14338600-14339400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:14338600-14339400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr21:14338600-14339600	ZNF genes & repeats	Fetal Brain Male	brain
12	chr21:14338800-14339400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr21:14338800-14339600	ZNF genes & repeats	HUVEC	blood vessel
14	chr21:14338800-14342400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr21:14339000-14339400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr21:14339000-14339400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:14339000-14339400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:14339000-14339400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:14339000-14339400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:14339000-14339400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr21:14339000-14339400	Active TSS	Ovary	ovary
24	chr21:14339000-14339400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr21:14339000-14339400	ZNF genes & repeats	Stomach Mucosa	stomach
26	chr21:14339000-14339400	ZNF genes & repeats	HMEC	breast
27	chr21:14339000-14339600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr21:14339200-14339400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
30	chr21:14339200-14339400	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr21:14339200-14339400	Flanking Bivalent TSS/Enh	Gastric	stomach
32	chr21:14339200-14339400	ZNF genes & repeats	Left Ventricle	heart
33	chr21:14339200-14339400	ZNF genes & repeats	GM12878-XiMat	blood
34	chr21:14339200-14339400	ZNF genes & repeats	K562	blood
35	chr21:14339200-14339600	ZNF genes & repeats	NH-A	brain
36	chr21:14339400-14340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:14339400-14340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:14339400-14340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr21:14339400-14359000	Weak transcription	K562	blood
40	chr21:14339600-14343200	Weak transcription	NH-A	brain
41	chr21:14340200-14341600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
46	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr21:14340800-14341200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr21:14340800-14341200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
49	chr21:14340800-14341200	ZNF genes & repeats	Aorta	Aorta
50	chr21:14340800-14341200	ZNF genes & repeats	Fetal Lung	lung

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