Variant report

Variant	nsv1063371
Chromosome Location	chr21:28282660-28294991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS1-2	chr21:28290242-28292870	NONHSAT081552

Extended variants
information (count: 505 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs162521	chr21:28282660-28282661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs162520	chr21:28282684-28282685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573506648	chr21:28282687-28282688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141446970	chr21:28282692-28282693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150081674	chr21:28282720-28282721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369915887	chr21:28282759-28282760	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9979718	chr21:28282775-28282776	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs162519	chr21:28282822-28282823	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs162518	chr21:28282834-28282835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564409252	chr21:28282835-28282836	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs578079519	chr21:28282951-28282952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543651464	chr21:28282953-28282954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563824814	chr21:28282954-28282955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138400067	chr21:28282966-28282967	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73899304	chr21:28282971-28282972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549662377	chr21:28282981-28282982	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374471364	chr21:28282989-28282990	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528051566	chr21:28283015-28283016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35197958	chr21:28283016-28283017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541996780	chr21:28283030-28283031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149268649	chr21:28283058-28283059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530674045	chr21:28283064-28283065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550274174	chr21:28283074-28283075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143522097	chr21:28283138-28283139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536065253	chr21:28283155-28283156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138015067	chr21:28283172-28283173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566465747	chr21:28283216-28283217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534700137	chr21:28283236-28283237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187194894	chr21:28283242-28283243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577962205	chr21:28283255-28283256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190080126	chr21:28283276-28283277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143586005	chr21:28283281-28283282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574256486	chr21:28283296-28283297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543269766	chr21:28283307-28283308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560070434	chr21:28283309-28283310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181696158	chr21:28283335-28283336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147196749	chr21:28283376-28283377	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564860421	chr21:28283381-28283382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187079723	chr21:28283411-28283412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565482231	chr21:28283444-28283445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs162517	chr21:28283497-28283498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577574108	chr21:28283501-28283502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567053339	chr21:28283505-28283506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373146242	chr21:28283564-28283565	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs77111065	chr21:28283565-28283566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566651460	chr21:28283641-28283642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538879227	chr21:28283642-28283643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140581745	chr21:28283665-28283666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571582064	chr21:28283672-28283673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537463890	chr21:28283700-28283701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28276400-28284400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28281400-28283200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr21:28281800-28283000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr21:28282000-28283000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr21:28282000-28283000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr21:28282000-28283400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:28282000-28283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr21:28282000-28284000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:28282200-28283000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:28282200-28283600	Enhancers	HSMM	muscle
11	chr21:28282400-28283400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:28282400-28283600	Enhancers	HSMMtube	muscle
13	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
14	chr21:28282600-28282800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr21:28282600-28283200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:28282600-28283400	Weak transcription	NHDF-Ad	bronchial
17	chr21:28282600-28285800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:28282800-28283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr21:28283000-28283200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr21:28283000-28289000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr21:28283200-28283400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr21:28283200-28283400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:28283200-28283600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr21:28283400-28283600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr21:28283400-28283600	Enhancers	NHDF-Ad	bronchial
26	chr21:28283400-28283800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr21:28283600-28284600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr21:28283600-28284800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr21:28283600-28286800	Weak transcription	HSMM	muscle
30	chr21:28283600-28290800	Weak transcription	HSMMtube	muscle
31	chr21:28283600-28290800	Weak transcription	NHDF-Ad	bronchial
32	chr21:28284000-28284600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr21:28284400-28284600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr21:28284600-28284800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr21:28284600-28285200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:28284800-28285600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr21:28285200-28285400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:28285800-28287400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:28286800-28287200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr21:28286800-28287400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr21:28287200-28289200	Weak transcription	Ovary	ovary
42	chr21:28287200-28289400	Weak transcription	HSMM	muscle
43	chr21:28287400-28289000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr21:28287400-28289200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:28288600-28289000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr21:28288600-28289600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr21:28288600-28289600	Enhancers	Adipose Nuclei	Adipose
48	chr21:28288600-28291200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr21:28288600-28292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:28288800-28289000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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