Variant report

Variant	nsv965979
Chromosome Location	chr21:28739398-28743541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr21:28742455-28742933	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr21:28742435-28742888	HUVEC	blood vessel:	n/a	n/a
3	MAFK	chr21:28743486-28743544	HepG2	liver:	n/a	n/a
4	MAFK	chr21:28743342-28743525	Hela-S3	cervix:	n/a	n/a
5	MAFK	chr21:28743386-28743717	IMR90	lung:	n/a	chr21:28743640-28743655
6	POLR2A	chr21:28739476-28739495	Gliobla	brain:	n/a	n/a
7	POLR2A	chr21:28739386-28739472	Gliobla	brain:	n/a	n/a
8	POLR2A	chr21:28742606-28742624	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr21:28739883-28740010	Gliobla	brain:	n/a	n/a
10	POLR2A	chr21:28739815-28739858	Gliobla	brain:	n/a	n/a
11	POLR2A	chr21:28741752-28741812	ProgFib	skin:	n/a	n/a
12	USF2	chr21:28739789-28739824	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28743113..28745036-chr21:28748011..28750615,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28740482-28740664	NONHSAT081571
2	lnc-ADAMTS5-5	chr21:28739620-28740664	l_2188_chr21:28733501-28920917_placenta
3	lnc-ADAMTS5-5	chr21:28733502-28739560	l_2188_chr21:28733501-28920917_placenta
4	lnc-ADAMTS5-5	chr21:28740482-28740664	NONHSAT081570

No data

Variant related genes	Relation type
EIF4A1P1	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576731164	chr21:28739426-28739427	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551122263	chr21:28739479-28739480	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149960090	chr21:28739527-28739528	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs1817114	chr21:28739553-28739554	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs995532	chr21:28739708-28739709	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147652340	chr21:28739714-28739715	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs533056494	chr21:28739740-28739741	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549687679	chr21:28739826-28739827	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs569480691	chr21:28739831-28739832	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs529064604	chr21:28739832-28739833	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs561989925	chr21:28739844-28739845	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548231201	chr21:28739895-28739896	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568459136	chr21:28739914-28739915	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs995533	chr21:28739948-28739949	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs140607137	chr21:28740055-28740056	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570851039	chr21:28740077-28740078	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539715019	chr21:28740091-28740092	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556910044	chr21:28740095-28740096	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs576666214	chr21:28740106-28740107	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145374729	chr21:28740109-28740110	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371315607	chr21:28740130-28740131	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs556039223	chr21:28740143-28740144	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs373814183	chr21:28740150-28740151	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs114810864	chr21:28740166-28740167	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541151817	chr21:28740222-28740223	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs147664104	chr21:28740239-28740240	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532959628	chr21:28740291-28740292	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs1817113	chr21:28740306-28740307	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2016760	chr21:28740319-28740320	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2016768	chr21:28740392-28740393	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1823705	chr21:28740407-28740408	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188887345	chr21:28740427-28740428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs535601054	chr21:28740430-28740431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs527760383	chr21:28740431-28740432	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs4306780	chr21:28740436-28740437	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11088029	chr21:28740445-28740446	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6516763	chr21:28740489-28740490	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7280599	chr21:28740507-28740508	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193177023	chr21:28740519-28740520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201778062	chr21:28740557-28740558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs397866448	chr21:28740558-28740559	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs57833295	chr21:28740559-28740560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs535118865	chr21:28740560-28740561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs62223465	chr21:28740561-28740562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs114219103	chr21:28740601-28740602	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs143035781	chr21:28740612-28740613	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs568197802	chr21:28740619-28740620	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs535618281	chr21:28740736-28740737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572624998	chr21:28740822-28740823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370096339	chr21:28740878-28740879	Weak transcription	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
Gastric cancer	18160780	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28736600-28739600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:28738000-28740000	Enhancers	Fetal Intestine Large	intestine
3	chr21:28738000-28740200	Enhancers	Fetal Intestine Small	intestine
4	chr21:28738000-28742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:28738000-28743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:28738400-28742600	Weak transcription	HSMMtube	muscle
7	chr21:28738600-28741600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:28738800-28739600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:28738800-28740000	Enhancers	Ovary	ovary
10	chr21:28739200-28739800	Enhancers	Duodenum Mucosa	Duodenum
11	chr21:28739200-28741600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:28739600-28741200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:28739600-28743400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:28740000-28741600	Weak transcription	Ovary	ovary
15	chr21:28740200-28742600	Weak transcription	Fetal Intestine Small	intestine
16	chr21:28741200-28743200	Enhancers	Right Atrium	heart
17	chr21:28741200-28745600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr21:28741400-28741800	Enhancers	Fetal Heart	heart
19	chr21:28741400-28744800	Enhancers	Dnd41	blood
20	chr21:28741600-28741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:28741600-28741800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr21:28741600-28741800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:28741600-28742200	Enhancers	Left Ventricle	heart
24	chr21:28741600-28743200	Enhancers	Ovary	ovary
25	chr21:28741600-28744400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr21:28741800-28742200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:28741800-28742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:28741800-28742400	Weak transcription	Fetal Heart	heart
29	chr21:28741800-28745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:28742000-28743600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr21:28742200-28742600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr21:28742200-28743200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr21:28742200-28743400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr21:28742200-28743400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr21:28742200-28744400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr21:28742200-28763600	Weak transcription	Left Ventricle	heart
37	chr21:28742400-28743000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:28742400-28745200	Enhancers	Fetal Heart	heart
39	chr21:28742400-28745800	Enhancers	Fetal Lung	lung
40	chr21:28742600-28743000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr21:28742600-28743000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr21:28742600-28743000	Enhancers	Fetal Intestine Small	intestine
43	chr21:28742600-28743600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:28742600-28743600	Enhancers	Fetal Stomach	stomach
45	chr21:28742600-28745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr21:28742600-28745600	Enhancers	HSMMtube	muscle
47	chr21:28742800-28743200	Enhancers	Aorta	Aorta
48	chr21:28742800-28743200	Enhancers	Placenta	Placenta
49	chr21:28742800-28743600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr21:28742800-28744000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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