Variant report

Variant	esv3330673
Chromosome Location	chr21:14339149-14339406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200565057	chr21:14339152-14339153	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75822585	chr21:14339153-14339154	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77011280	chr21:14339154-14339155	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62222484	chr21:14339155-14339156	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78458030	chr21:14339156-14339157	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77654554	chr21:14339157-14339158	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563301273	chr21:14339160-14339161	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375498338	chr21:14339164-14339165	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62222485	chr21:14339173-14339174	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62222486	chr21:14339178-14339179	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372495042	chr21:14339191-14339192	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113602236	chr21:14339192-14339193	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs199893988	chr21:14339198-14339199	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112795766	chr21:14339204-14339205	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377118669	chr21:14339207-14339208	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201822476	chr21:14339208-14339209	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200642608	chr21:14339213-14339214	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552610461	chr21:14339218-14339219	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566018082	chr21:14339229-14339230	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535151141	chr21:14339249-14339250	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201015836	chr21:14339252-14339253	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547602704	chr21:14339255-14339256	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567516985	chr21:14339258-14339259	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs202047212	chr21:14339261-14339262	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs62222550	chr21:14339262-14339263	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200437406	chr21:14339263-14339264	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201927850	chr21:14339269-14339270	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62222551	chr21:14339278-14339279	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369307746	chr21:14339282-14339283	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182393456	chr21:14339286-14339287	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374384520	chr21:14339287-14339288	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186489163	chr21:14339288-14339289	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538278269	chr21:14339293-14339294	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372790476	chr21:14339302-14339303	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572030393	chr21:14339310-14339311	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540768621	chr21:14339338-14339339	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11087950	chr21:14339361-14339362	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs462917	chr21:14339377-14339378	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112111153	chr21:14339381-14339382	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112840283	chr21:14339393-14339394	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111589980	chr21:14339397-14339398	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561098398	chr21:14339401-14339402	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:40 , 50 per page) page: 1

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	chr21:14339000-14339200	ZNF genes & repeats	HepG2	liver
18	chr21:14339000-14339400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr21:14339000-14339400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:14339000-14339400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:14339000-14339400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:14339000-14339400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:14339000-14339400	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr21:14339000-14339400	Active TSS	Ovary	ovary
25	chr21:14339000-14339400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr21:14339000-14339400	ZNF genes & repeats	Stomach Mucosa	stomach
27	chr21:14339000-14339400	ZNF genes & repeats	HMEC	breast
28	chr21:14339000-14339600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
29	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr21:14339200-14339400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr21:14339200-14339400	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr21:14339200-14339400	Flanking Bivalent TSS/Enh	Gastric	stomach
33	chr21:14339200-14339400	ZNF genes & repeats	Left Ventricle	heart
34	chr21:14339200-14339400	ZNF genes & repeats	GM12878-XiMat	blood
35	chr21:14339200-14339400	ZNF genes & repeats	K562	blood
36	chr21:14339200-14339600	ZNF genes & repeats	NH-A	brain
37	chr21:14339400-14340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:14339400-14340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr21:14339400-14340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:14339400-14359000	Weak transcription	K562	blood

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