Variant report

Variant	esv3442993
Chromosome Location	chr21:14350099-14359240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1301 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575406357	chr21:14350125-14350126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75863776	chr21:14350126-14350127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78059653	chr21:14350132-14350133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74670837	chr21:14350143-14350144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113044478	chr21:14350153-14350154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59143310	chr21:14350154-14350155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544361221	chr21:14350158-14350159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78879117	chr21:14350160-14350161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558050855	chr21:14350171-14350172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75716269	chr21:14350175-14350176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578142768	chr21:14350177-14350178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540490038	chr21:14350179-14350180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113668417	chr21:14350182-14350183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146703522	chr21:14350196-14350197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560799662	chr21:14350210-14350211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529548698	chr21:14350217-14350218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75337285	chr21:14350252-14350253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs447301	chr21:14350261-14350262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542610919	chr21:14350288-14350289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562585013	chr21:14350305-14350306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188073831	chr21:14350319-14350320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531678564	chr21:14350325-14350326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201482033	chr21:14350338-14350339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146239253	chr21:14350341-14350342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146020818	chr21:14350347-14350348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144462634	chr21:14350350-14350351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141714384	chr21:14350356-14350357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144103700	chr21:14350358-14350359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71262851	chr21:14350359-14350360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59977870	chr21:14350360-14350361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551879641	chr21:14350362-14350363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200122230	chr21:14350363-14350364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112330813	chr21:14350371-14350372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147733275	chr21:14350383-14350384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71303071	chr21:14350385-14350386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571672525	chr21:14350387-14350388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148949824	chr21:14350403-14350404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533115953	chr21:14350409-14350410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71258312	chr21:14350412-14350413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546487325	chr21:14350414-14350415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182316588	chr21:14350428-14350429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62220464	chr21:14350435-14350436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199592482	chr21:14350436-14350437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200700726	chr21:14350441-14350442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56365398	chr21:14350469-14350470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201870174	chr21:14350470-14350471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566725906	chr21:14350483-14350484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535794673	chr21:14350491-14350492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62220465	chr21:14350504-14350505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144217732	chr21:14350506-14350507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr21:14339400-14359000	Weak transcription	K562	blood
5	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
8	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:14353400-14355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr21:14354200-14359600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr21:14354600-14356000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr21:14354600-14369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:14357600-14368800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr21:14358200-14361200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr21:14358400-14360000	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:14358800-14359400	ZNF genes & repeats	NH-A	brain
19	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr21:14359000-14359200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:14359000-14359400	ZNF genes & repeats	K562	blood
22	chr21:14359200-14359400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:14359200-14359400	ZNF genes & repeats	Primary T cells from cord blood	blood

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