Variant report

Variant	esv3335863
Chromosome Location	chr21:14342797-14360444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2497 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2497 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77374211	chr21:14342803-14342804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113825395	chr21:14342805-14342806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569515830	chr21:14342808-14342809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367572640	chr21:14342809-14342810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62223169	chr21:14342814-14342815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370543555	chr21:14342816-14342817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374612799	chr21:14342820-14342821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80131137	chr21:14342822-14342823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367984256	chr21:14342835-14342836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372550848	chr21:14342838-14342839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375163813	chr21:14342842-14342843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148904069	chr21:14342844-14342845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368651938	chr21:14342846-14342847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565422199	chr21:14342848-14342849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534457396	chr21:14342850-14342851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372113103	chr21:14342852-14342853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs466684	chr21:14342857-14342858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113614675	chr21:14342870-14342871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200707073	chr21:14342881-14342882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112830875	chr21:14342882-14342883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574986626	chr21:14342885-14342886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111238871	chr21:14342887-14342888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543723366	chr21:14342904-14342905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9976589	chr21:14342907-14342908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202046593	chr21:14342913-14342914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191859794	chr21:14342917-14342918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201169043	chr21:14342918-14342919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182081432	chr21:14342919-14342920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202021101	chr21:14342925-14342926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557654120	chr21:14342926-14342927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10432898	chr21:14342933-14342934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577493203	chr21:14342939-14342940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111592575	chr21:14342948-14342949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112281298	chr21:14342949-14342950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546202533	chr21:14342956-14342957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559828123	chr21:14342965-14342966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186677549	chr21:14342973-14342974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528596539	chr21:14342984-14342985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190256020	chr21:14342985-14342986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs456972	chr21:14342989-14342990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542348386	chr21:14342994-14342995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560882579	chr21:14343007-14343008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374779597	chr21:14343020-14343021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529915963	chr21:14343030-14343031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199795837	chr21:14343040-14343041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111655979	chr21:14343046-14343047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549780536	chr21:14343051-14343052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563577815	chr21:14343052-14343053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532307845	chr21:14343056-14343057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201251327	chr21:14343068-14343069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:72 , 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	chr21:14338800-14350800	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	chr21:14339600-14343200	Weak transcription	NH-A	brain
11	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
15	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr21:14341400-14342800	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
25	chr21:14343200-14343600	Active TSS	Right Atrium	heart
26	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
27	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
28	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
30	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
31	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr21:14343400-14343600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
37	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
38	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
41	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
44	chr21:14345000-14345600	Active TSS	Aorta	Aorta
45	chr21:14347400-14348200	ZNF genes & repeats	HUVEC	blood vessel
46	chr21:14347600-14348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:14347600-14348200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
49	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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