Variant report

Variant	esv3386441
Chromosome Location	chr21:14344807-14350180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 711 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374079193	chr21:14344810-14344811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377753132	chr21:14344814-14344815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62223177	chr21:14344821-14344822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8134760	chr21:14344828-14344829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62223178	chr21:14344829-14344830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185542872	chr21:14344830-14344831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371060987	chr21:14344833-14344834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77573225	chr21:14344847-14344848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35336971	chr21:14344855-14344856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78926316	chr21:14344861-14344862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74579998	chr21:14344869-14344870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373085857	chr21:14344870-14344871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75009611	chr21:14344875-14344876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76188397	chr21:14344882-14344883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112856969	chr21:14344884-14344885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79087148	chr21:14344888-14344889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77226232	chr21:14344889-14344890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548904574	chr21:14344890-14344891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77520601	chr21:14344892-14344893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76513534	chr21:14344898-14344899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75261179	chr21:14344901-14344902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80038279	chr21:14344903-14344904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77481482	chr21:14344904-14344905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75296428	chr21:14344907-14344908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75066219	chr21:14344946-14344947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569037963	chr21:14344954-14344955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538100131	chr21:14344963-14344964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558103147	chr21:14344971-14344972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79224365	chr21:14344974-14344975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578018347	chr21:14344985-14344986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78113232	chr21:14344988-14344989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79310738	chr21:14344989-14344990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553768065	chr21:14344990-14344991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573650627	chr21:14344997-14344998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78310236	chr21:14345007-14345008	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74625138	chr21:14345009-14345010	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78556224	chr21:14345012-14345013	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79702303	chr21:14345024-14345025	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556439094	chr21:14345031-14345032	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576243932	chr21:14345034-14345035	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76000804	chr21:14345036-14345037	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77815878	chr21:14345037-14345038	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10432918	chr21:14345045-14345046	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8131842	chr21:14345052-14345053	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76627931	chr21:14345059-14345060	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545269179	chr21:14345065-14345066	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565217580	chr21:14345066-14345067	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76772095	chr21:14345083-14345084	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528011824	chr21:14345098-14345099	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79974705	chr21:14345107-14345108	ZNF genes & repeats Active TSS 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:36 , 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	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr21:14339400-14359000	Weak transcription	K562	blood
10	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
12	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
17	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
19	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
20	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
23	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
26	chr21:14345000-14345600	Active TSS	Aorta	Aorta
27	chr21:14347400-14348200	ZNF genes & repeats	HUVEC	blood vessel
28	chr21:14347600-14348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:14347600-14348200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
31	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
35	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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