Variant report

Variant	nsv834043
Chromosome Location	chr21:14496075-14705068
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-12	chr21:14677649-14677729	l_2166_chr21:14677648-14687775_brain
2	lnc-POTED-12	chr21:14687514-14687778	l_2166_chr21:14677648-14687775_brain

Extended variants
information (count: 402 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146731575	chr21:14497233-14497234	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77176102	chr21:14497247-14497248	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572364837	chr21:14497251-14497252	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541278186	chr21:14497252-14497253	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75576194	chr21:14497261-14497262	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112235913	chr21:14497262-14497263	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79783891	chr21:14497270-14497271	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79020749	chr21:14497272-14497273	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561173192	chr21:14497273-14497274	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529678350	chr21:14497277-14497278	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372400675	chr21:14497279-14497280	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113980529	chr21:14497308-14497309	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375028073	chr21:14497320-14497321	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111927998	chr21:14497321-14497322	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141810578	chr21:14497324-14497325	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563373846	chr21:14497334-14497335	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372513829	chr21:14497340-14497341	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2457317	chr21:14497363-14497364	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554569590	chr21:14497367-14497368	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs142211526	chr21:14619600-14619601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113971599	chr21:14619616-14619617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141460135	chr21:14619650-14619651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184749096	chr21:14619666-14619667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2997012	chr21:14619682-14619683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2997013	chr21:14619696-14619697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543406096	chr21:14619697-14619698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146970651	chr21:14619767-14619768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201232074	chr21:14619783-14619784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202154830	chr21:14619837-14619838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545571809	chr21:14619871-14619872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2334427	chr21:14619876-14619877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528655743	chr21:14619880-14619881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548508032	chr21:14619883-14619884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374289918	chr21:14619890-14619891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568383164	chr21:14619895-14619896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200381343	chr21:14619920-14619921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530837093	chr21:14619935-14619936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550516159	chr21:14619961-14619962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532816383	chr21:14620000-14620001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2997014	chr21:14620026-14620027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150232205	chr21:14620043-14620044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2259468	chr21:14620054-14620055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565892189	chr21:14620059-14620060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559337326	chr21:14620075-14620076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534795007	chr21:14620104-14620105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528051472	chr21:14620140-14620141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374908395	chr21:14620165-14620166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574755775	chr21:14620201-14620202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552388077	chr21:14620216-14620217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369683207	chr21:14620224-14620225	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
T-cell lymphomas	22341440	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:14619600-14620400	Enhancers	Brain Hippocampus Middle	brain
3	chr21:14667200-14668400	Enhancers	Brain Hippocampus Middle	brain
4	chr21:14676000-14676200	Enhancers	Liver	Liver
5	chr21:14676000-14676800	Enhancers	Brain Anterior Caudate	brain
6	chr21:14676200-14676800	Weak transcription	Liver	Liver
7	chr21:14676800-14677600	Enhancers	Liver	Liver
8	chr21:14677600-14682400	Weak transcription	Liver	Liver
9	chr21:14682400-14682800	Enhancers	Liver	Liver

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