Variant report

Variant	nsv834071
Chromosome Location	chr21:28806911-28988880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:28869498-28869553	K562	blood:	n/a	n/a
2	BHLHE40	chr21:28961582-28961661	GM12878	blood:	n/a	n/a
3	BRCA1	chr21:28858543-28858580	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr21:28937055-28937346	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr21:28941465-28941672	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr21:28933443-28933729	H1-hESC	embryonic stem cell:	n/a	chr21:28933565-28933576
7	CEBPB	chr21:28881447-28881885	IMR90	lung:	n/a	n/a
8	CEBPB	chr21:28908640-28908966	IMR90	lung:	n/a	n/a
9	CEBPB	chr21:28933405-28933794	ECC-1	luminal epithelium:	n/a	chr21:28933565-28933576
10	CEBPB	chr21:28904335-28904776	IMR90	lung:	n/a	n/a
11	CEBPB	chr21:28910390-28910663	IMR90	lung:	n/a	chr21:28910520-28910531
12	CEBPB	chr21:28977729-28977929	HepG2	liver:	n/a	chr21:28977768-28977779
13	CEBPB	chr21:28901206-28901484	IMR90	lung:	n/a	n/a
14	CEBPB	chr21:28933519-28933752	ECC-1	luminal epithelium:	n/a	chr21:28933565-28933576
15	CEBPB	chr21:28910412-28910677	H1-hESC	embryonic stem cell:	n/a	chr21:28910520-28910531
16	CEBPB	chr21:28941405-28941742	IMR90	lung:	n/a	n/a
17	CEBPB	chr21:28910456-28910656	HepG2	liver:	n/a	chr21:28910520-28910531
18	CEBPB	chr21:28853049-28853475	IMR90	lung:	n/a	n/a
19	CEBPB	chr21:28968454-28968742	IMR90	lung:	n/a	chr21:28968611-28968624 chr21:28968611-28968622
20	CEBPB	chr21:28933411-28933725	HepG2	liver:	n/a	chr21:28933565-28933576
21	CEBPB	chr21:28891644-28892124	IMR90	lung:	n/a	n/a
22	CEBPB	chr21:28849661-28849980	IMR90	lung:	n/a	chr21:28849816-28849827
23	CEBPB	chr21:28942223-28943265	IMR90	lung:	n/a	n/a
24	CEBPB	chr21:28934742-28934988	HepG2	liver:	n/a	chr21:28934834-28934845
25	CEBPB	chr21:28849680-28849941	HepG2	liver:	n/a	chr21:28849816-28849827
26	CEBPB	chr21:28944023-28944399	IMR90	lung:	n/a	chr21:28944049-28944057
27	CEBPB	chr21:28838630-28838778	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr21:28933493-28933685	K562	blood:	n/a	chr21:28933565-28933576
29	CEBPB	chr21:28933417-28933740	IMR90	lung:	n/a	chr21:28933565-28933576
30	CEBPB	chr21:28968482-28968693	HepG2	liver:	n/a	chr21:28968611-28968624 chr21:28968611-28968622
31	CEBPB	chr21:28866283-28866398	A549	lung:	n/a	n/a
32	CTCF	chr21:28937880-28938030	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr21:28936467-28936497	GM20000	blood:	n/a	n/a
34	CTCF	chr21:28838690-28838762	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr21:28937860-28938010	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr21:28849140-28849290	HFF	foreskin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
37	CTCF	chr21:28849140-28849290	HVMF	connective:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
38	CTCF	chr21:28955280-28955430	AG10803	skin:	n/a	n/a
39	CTCF	chr21:28937100-28937250	GM12865	blood:	n/a	chr21:28937181-28937202 chr21:28937187-28937203 chr21:28937186-28937204 chr21:28937188-28937201
40	CTCF	chr21:28849140-28849290	AG04449	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
41	CTCF	chr21:28838660-28838810	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr21:28838620-28838770	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr21:28849160-28849310	HPF	lung:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
44	CTCF	chr21:28838548-28838858	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr21:28849146-28849300	HUVEC	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
46	CTCF	chr21:28849144-28849312	Kidney_OC	kidney:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
47	CTCF	chr21:28955260-28955410	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr21:28937120-28937270	HPAF	blood vessel:	n/a	chr21:28937181-28937202 chr21:28937187-28937203 chr21:28937186-28937204 chr21:28937188-28937201
49	CTCF	chr21:28937900-28938050	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:28849140-28849290	AG09319	gingival:	n/a	chr21:28849231-28849239 chr21:28849221-28849242

No.	Distal block	Cell Line	Cell type
1	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
2	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
3	chr21:28891473..28893069-chr21:28911630..28913347,2	K562	blood:
4	chr21:28898683..28901210-chr21:28904442..28906645,2	K562	blood:
5	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
6	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
7	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
8	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
9	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
10	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
11	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
12	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
13	chr21:28814417..28816406-chr21:28820762..28822994,2	K562	blood:
14	chr21:28898683..28901210-chr21:28904442..28906645,2	K562	blood:
15	chr21:28891473..28893069-chr21:28911630..28913347,2	K562	blood:
16	chr21:28935406..28937759-chr21:28942464..28945414,2	K562	blood:
17	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
18	chr21:28222364..28222967-chr21:28936673..28937273,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28871412-28871591	l_2188_chr21:28733501-28920917_placenta
2	lnc-USP16-13	chr21:28833511-28834077	NONHSAT081573
3	lnc-USP16-13	chr21:28833511-28833721	NONHSAT081572
4	lnc-ADAMTS5-5	chr21:28871468-28871573	NONHSAT081570
5	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081573
6	lnc-ADAMTS5-5	chr21:28920778-28920869	NONHSAT081571
7	lnc-ADAMTS5-5	chr21:28968840-28969041	NONHSAT081571
8	lnc-ADAMTS5-5	chr21:28871412-28871573	NONHSAT081571
9	lnc-USP16-13	chr21:28834246-28834547	ucscGeneNc_uc002ymn_2
10	lnc-USP16-13	chr21:28833511-28834077	ucscGeneNc_uc002ymn_2
11	lnc-ADAMTS5-5	chr21:28920778-28920797	NONHSAT081570
12	lnc-ADAMTS5-6	chr21:28942518-28942696	NONHSAT081575
13	lnc-ADAMTS5-5	chr21:28965174-28965489	NONHSAT081576
14	lnc-ADAMTS5-5	chr21:28968840-28968966	NONHSAT081576
15	lnc-ADAMTS5-5	chr21:28920774-28920917	l_2188_chr21:28733501-28920917_placenta
16	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081572
17	lnc-ADAMTS5-1	chr21:28820697-28820898	ENSG00000231236.2
18	lnc-ADAMTS5-6	chr21:28934419-28934869	NONHSAT081575

Variant related genes	Relation type
ENSG00000231236	TF binding region
NCSTNP1	TF binding region
ENSG00000231236	chromatin interactions

Extended variants
information (count: 6494 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:6494 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115978490	chr21:28812810-28812811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs534061070	chr21:28812831-28812832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184675617	chr21:28812857-28812858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576923569	chr21:28812926-28812927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189819563	chr21:28812937-28812938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs142345014	chr21:28812942-28812943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4353721	chr21:28812963-28812964	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575787053	chr21:28812969-28812970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544751181	chr21:28812971-28812972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4544522	chr21:28812980-28812981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs56174875	chr21:28812993-28812994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77316664	chr21:28813004-28813005	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560629362	chr21:28813045-28813046	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116374149	chr21:28813048-28813049	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs386817591	chr21:28813051-28813052	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs239642	chr21:28813052-28813053	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114715290	chr21:28813056-28813057	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76513927	chr21:28813081-28813082	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527516537	chr21:28813099-28813100	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs114270666	chr21:28813102-28813103	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34627193	chr21:28813183-28813184	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533557047	chr21:28813191-28813192	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs79457803	chr21:28813277-28813278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376531057	chr21:28813288-28813289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564425232	chr21:28813307-28813308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531688676	chr21:28813329-28813330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181467891	chr21:28813367-28813368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184262255	chr21:28813368-28813369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78907850	chr21:28813413-28813414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9917498	chr21:28813438-28813439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140149665	chr21:28813439-28813440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376197189	chr21:28813461-28813462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370200937	chr21:28813471-28813472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544689469	chr21:28813500-28813501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182257316	chr21:28813513-28813514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79400068	chr21:28813515-28813516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76398856	chr21:28813526-28813527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560577849	chr21:28813592-28813593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143793014	chr21:28813595-28813596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77948385	chr21:28813661-28813662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562710878	chr21:28813741-28813742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146830350	chr21:28813746-28813747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372682638	chr21:28813749-28813750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549802641	chr21:28813803-28813804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113534579	chr21:28813808-28813809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531811914	chr21:28813877-28813878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77674771	chr21:28813941-28813942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568073191	chr21:28813960-28813961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568096147	chr21:28813995-28813996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527422843	chr21:28813999-28814000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28812800-28813200	ZNF genes & repeats	Spleen	Spleen
2	chr21:28813000-28813400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr21:28813200-28817600	Weak transcription	Spleen	Spleen
4	chr21:28819800-28821000	Enhancers	Fetal Lung	lung
5	chr21:28820000-28821400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr21:28820400-28820800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr21:28820400-28820800	Enhancers	Psoas Muscle	Psoas
8	chr21:28820400-28821000	Enhancers	Adipose Nuclei	Adipose
9	chr21:28820600-28821000	Enhancers	Fetal Stomach	stomach
10	chr21:28820800-28821600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:28820800-28822000	Enhancers	HUVEC	blood vessel
12	chr21:28820800-28823800	Weak transcription	Psoas Muscle	Psoas
13	chr21:28821000-28822400	Weak transcription	Adipose Nuclei	Adipose
14	chr21:28821000-28825000	Weak transcription	Pancreas	Pancrea
15	chr21:28821200-28821400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
16	chr21:28821200-28821800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:28821400-28821800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr21:28821800-28824600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr21:28822000-28822800	Weak transcription	HUVEC	blood vessel
20	chr21:28822400-28824400	Enhancers	Adipose Nuclei	Adipose
21	chr21:28822600-28823200	Enhancers	Small Intestine	intestine
22	chr21:28822800-28823000	Enhancers	Left Ventricle	heart
23	chr21:28822800-28823000	Enhancers	HUVEC	blood vessel
24	chr21:28822800-28823200	Enhancers	Fetal Intestine Large	intestine
25	chr21:28822800-28823400	Enhancers	Spleen	Spleen
26	chr21:28823000-28823400	Enhancers	Dnd41	blood
27	chr21:28823000-28823800	Enhancers	Fetal Intestine Small	intestine
28	chr21:28823000-28823800	Weak transcription	Left Ventricle	heart
29	chr21:28823400-28824600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr21:28823800-28824000	Enhancers	Psoas Muscle	Psoas
31	chr21:28823800-28824400	Enhancers	Left Ventricle	heart
32	chr21:28824400-28824800	Weak transcription	Left Ventricle	heart
33	chr21:28824600-28825000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr21:28825000-28825200	Enhancers	Left Ventricle	heart
35	chr21:28825000-28825200	Enhancers	Lung	lung
36	chr21:28825000-28825200	Enhancers	Pancreas	Pancrea
37	chr21:28825000-28825600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr21:28825200-28825600	Weak transcription	Pancreas	Pancrea
39	chr21:28826200-28827000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:28826200-28827000	Enhancers	NHEK	skin
41	chr21:28827000-28830200	Weak transcription	NHEK	skin
42	chr21:28827000-28832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:28830200-28833000	Enhancers	NHEK	skin
44	chr21:28830400-28833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:28832000-28833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:28832200-28832600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:28833000-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:28833000-28835400	Weak transcription	NHEK	skin
49	chr21:28833200-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:28835200-28835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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