Variant report

Variant	esv9592
Chromosome Location	chr21:14348827-14365535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-14	chr21:14365270-14365348	NONHSAT081091
2	lnc-POTED-14	chr21:14360481-14360606	NONHSAT081091

Extended variants
information (count: 2388 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2388 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200399007	chr21:14348835-14348836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112721726	chr21:14348847-14348848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557436626	chr21:14348862-14348863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs461675	chr21:14348865-14348866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545990577	chr21:14348868-14348869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558684426	chr21:14348873-14348874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75297887	chr21:14348876-14348877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189727423	chr21:14348880-14348881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180981329	chr21:14348896-14348897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572168930	chr21:14348897-14348898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541248715	chr21:14348903-14348904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560835122	chr21:14348908-14348909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28843995	chr21:14348915-14348916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529979323	chr21:14348918-14348919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543013472	chr21:14348921-14348922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10439646	chr21:14348924-14348925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112101117	chr21:14348947-14348948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112766627	chr21:14348953-14348954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111699747	chr21:14348961-14348962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112134372	chr21:14348983-14348984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199685077	chr21:14348984-14348985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532195522	chr21:14348986-14348987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552005535	chr21:14349008-14349009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565792650	chr21:14349009-14349010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185243996	chr21:14349031-14349032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528645481	chr21:14349033-14349034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200994021	chr21:14349042-14349043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs548775166	chr21:14349048-14349049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568725892	chr21:14349079-14349080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201647158	chr21:14349088-14349089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537789189	chr21:14349101-14349102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs199954888	chr21:14349102-14349103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs58767289	chr21:14349103-14349104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374299092	chr21:14349104-14349105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs56230741	chr21:14349107-14349108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199916472	chr21:14349128-14349129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62223188	chr21:14349133-14349134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573301685	chr21:14349136-14349137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534477643	chr21:14349141-14349142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112591381	chr21:14349143-14349144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554345305	chr21:14349144-14349145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200974949	chr21:14349157-14349158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574387281	chr21:14349161-14349162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543350388	chr21:14349162-14349163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562925475	chr21:14349163-14349164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576739029	chr21:14349173-14349174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545802100	chr21:14349174-14349175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559146017	chr21:14349177-14349178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs202198919	chr21:14349188-14349189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528194714	chr21:14349202-14349203	Weak transcription ZNF genes & repeats	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:124 , 50 per page) page: 1 2 3

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	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
9	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:14353400-14355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr21:14354200-14359600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr21:14354600-14356000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr21:14354600-14369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:14357600-14368800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr21:14358200-14361200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr21:14358400-14360000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:14358800-14359400	ZNF genes & repeats	NH-A	brain
20	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr21:14359000-14359200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:14359000-14359400	ZNF genes & repeats	K562	blood
23	chr21:14359200-14359400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:14359200-14359400	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr21:14359400-14360400	Weak transcription	NH-A	brain
26	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:14360400-14360800	ZNF genes & repeats	NH-A	brain
28	chr21:14360400-14361000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr21:14360600-14361400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr21:14362400-14362800	ZNF genes & repeats	Liver	Liver
31	chr21:14362400-14362800	ZNF genes & repeats	Fetal Heart	heart
32	chr21:14362600-14362800	ZNF genes & repeats	Stomach Mucosa	stomach
33	chr21:14362600-14362800	ZNF genes & repeats	K562	blood
34	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
35	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
36	chr21:14362800-14365200	Weak transcription	K562	blood
37	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
39	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
40	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:14365000-14365600	ZNF genes & repeats	Liver	Liver
47	chr21:14365000-14365600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr21:14365000-14368800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr21:14365200-14365400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr21:14365200-14365400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links