Variant report

Variant	nsv913667
Chromosome Location	chr21:28798703-28887357
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	BRCA1	chr21:28858543-28858580	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr21:28849680-28849941	HepG2	liver:	n/a	chr21:28849816-28849827
4	CEBPB	chr21:28849661-28849980	IMR90	lung:	n/a	chr21:28849816-28849827
5	CEBPB	chr21:28838630-28838778	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr21:28866283-28866398	A549	lung:	n/a	n/a
7	CEBPB	chr21:28853049-28853475	IMR90	lung:	n/a	n/a
8	CEBPB	chr21:28881447-28881885	IMR90	lung:	n/a	n/a
9	CTCF	chr21:28838640-28838790	HEK293	kidney:	n/a	n/a
10	CTCF	chr21:28838548-28838858	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr21:28849127-28849315	LNCaP	prostate:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
12	CTCF	chr21:28802040-28802190	BE2_C	brain:	n/a	n/a
13	CTCF	chr21:28838680-28838830	HCM	heart:	n/a	n/a
14	CTCF	chr21:28838682-28838684	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr21:28849140-28849290	HRPEpiC	eye:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
16	CTCF	chr21:28849160-28849310	NHEK	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
17	CTCF	chr21:28849140-28849290	RPTEC	kidney:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
18	CTCF	chr21:28849120-28849270	HMF	breast:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
19	CTCF	chr21:28849120-28849270	Hela-S3	cervix:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
20	CTCF	chr21:28849169-28849262	ProgFib	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
21	CTCF	chr21:28849200-28849350	BE2_C	brain:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
22	CTCF	chr21:28838680-28838830	HPF	lung:	n/a	n/a
23	CTCF	chr21:28849140-28849290	NHDF-neo	bronchial:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
24	CTCF	chr21:28883700-28883850	K562	blood:	n/a	n/a
25	CTCF	chr21:28849140-28849290	AG09319	gingival:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
26	CTCF	chr21:28838660-28838810	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr21:28849060-28849210	HAc	cerebellar:	n/a	n/a
28	CTCF	chr21:28849160-28849310	AoAF	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
29	CTCF	chr21:28838680-28838830	HMF	breast:	n/a	n/a
30	CTCF	chr21:28849123-28849301	Hela-S3	cervix:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
31	CTCF	chr21:28838640-28838790	HMF	breast:	n/a	n/a
32	CTCF	chr21:28849100-28849250	HEK293	kidney:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
33	CTCF	chr21:28849140-28849290	HAc	cerebellar:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
34	CTCF	chr21:28849200-28849350	HEEpiC	esophagus:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
35	CTCF	chr21:28838680-28838830	HMEC	breast:	n/a	n/a
36	CTCF	chr21:28849120-28849270	HRE	kidney:	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	chr21:28849160-28849310	AG09309	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
39	CTCF	chr21:28849135-28849275	Gliobla	brain:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
40	CTCF	chr21:28838660-28838810	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr21:28838600-28838750	HVMF	connective:	n/a	n/a
42	CTCF	chr21:28838680-28838830	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr21:28849180-28849330	BJ	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
44	CTCF	chr21:28849180-28849330	RPTEC	kidney:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
45	CTCF	chr21:28849142-28849327	LNCaP	prostate:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
46	CTCF	chr21:28849100-28849250	HEEpiC	esophagus:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
47	CTCF	chr21:28849120-28849270	HVMF	connective:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
48	CTCF	chr21:28838620-28838770	AG09319	gingival:	n/a	n/a
49	CTCF	chr21:28849180-28849330	HCPEpiC	choroid plexus:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
50	CTCF	chr21:28849137-28849338	Pancreas_OC	pancreas:	n/a	chr21:28849231-28849239 chr21:28849221-28849242

No.	Distal block	Cell Line	Cell type
1	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
2	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
3	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
4	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
5	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
6	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
7	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
8	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
9	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
10	chr21:28814417..28816406-chr21:28820762..28822994,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-5	chr21:28871412-28871591	l_2188_chr21:28733501-28920917_placenta
2	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081572
3	lnc-USP16-13	chr21:28833511-28834077	NONHSAT081573
4	lnc-USP16-13	chr21:28833511-28833721	NONHSAT081572
5	lnc-USP16-13	chr21:28834246-28834547	ucscGeneNc_uc002ymn_2
6	lnc-ADAMTS5-5	chr21:28871468-28871573	NONHSAT081570
7	lnc-ADAMTS5-1	chr21:28820697-28820898	ENSG00000231236.2
8	lnc-USP16-13	chr21:28833511-28834077	ucscGeneNc_uc002ymn_2
9	lnc-ADAMTS5-5	chr21:28871412-28871573	NONHSAT081571
10	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081573

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

Extended variants
information (count: 2950 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2950 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830933	chr21:28798703-28798704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368971532	chr21:28798721-28798722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551949816	chr21:28798724-28798725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113751449	chr21:28798742-28798743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116401854	chr21:28798900-28798901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2830934	chr21:28798944-28798945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577999631	chr21:28798972-28798973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184638308	chr21:28798993-28798994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376522333	chr21:28799035-28799036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141137061	chr21:28799040-28799041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573784825	chr21:28799078-28799079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147427867	chr21:28799094-28799095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368108196	chr21:28799095-28799096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562060004	chr21:28799103-28799104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35840853	chr21:28799115-28799116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71185429	chr21:28799116-28799117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144835079	chr21:28799165-28799166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578071355	chr21:28799168-28799169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181557989	chr21:28799190-28799191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552868531	chr21:28799299-28799300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1979179	chr21:28799309-28799310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531283505	chr21:28799331-28799332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1979180	chr21:28799345-28799346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533437147	chr21:28799369-28799370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558675526	chr21:28799372-28799373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115818165	chr21:28799408-28799409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1979181	chr21:28799424-28799425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529496692	chr21:28799448-28799449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529344300	chr21:28799481-28799482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114397997	chr21:28799487-28799488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2830935	chr21:28799489-28799490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs185934678	chr21:28799508-28799509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78112171	chr21:28799545-28799546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537332621	chr21:28799600-28799601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557010872	chr21:28799625-28799626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114962071	chr21:28799700-28799701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536081986	chr21:28799752-28799753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555395149	chr21:28799775-28799776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572218084	chr21:28799812-28799813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189459624	chr21:28799837-28799838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72635039	chr21:28799894-28799895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9653652	chr21:28799917-28799918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568086523	chr21:28799939-28799940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138224592	chr21:28799968-28799969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141265951	chr21:28799969-28799970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116369091	chr21:28799983-28799984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528750992	chr21:28800004-28800005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549312455	chr21:28800052-28800053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559448244	chr21:28800093-28800094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181779731	chr21:28800158-28800159	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:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart
2	chr21:28793000-28798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28793800-28798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28793800-28799000	Enhancers	NHDF-Ad	bronchial
5	chr21:28794000-28799200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:28794200-28798800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28794200-28799000	Enhancers	HSMM	muscle
8	chr21:28794600-28798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28794600-28798800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:28794600-28798800	Enhancers	HMEC	breast
11	chr21:28795600-28801800	Weak transcription	Aorta	Aorta
12	chr21:28796600-28801800	Weak transcription	Fetal Stomach	stomach
13	chr21:28796800-28798800	Enhancers	HSMMtube	muscle
14	chr21:28797800-28801800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:28798000-28801800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:28798200-28800600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:28798200-28801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:28798200-28801800	Weak transcription	Right Ventricle	heart
19	chr21:28798400-28801800	Weak transcription	Ovary	ovary
20	chr21:28798400-28801800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:28798600-28801800	Weak transcription	Adipose Nuclei	Adipose
22	chr21:28798600-28801800	Weak transcription	NHLF	lung
23	chr21:28798600-28801800	Weak transcription	Osteobl	bone
24	chr21:28798800-28801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:28798800-28801600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:28798800-28801600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:28798800-28801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:28798800-28801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:28798800-28802000	Weak transcription	HSMMtube	muscle
30	chr21:28799000-28801400	Weak transcription	NHDF-Ad	bronchial
31	chr21:28799000-28802000	Weak transcription	HSMM	muscle
32	chr21:28799200-28802000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:28801400-28803400	Enhancers	NHDF-Ad	bronchial
34	chr21:28801600-28803000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:28801600-28803200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:28801600-28803600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:28801800-28802200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:28801800-28802200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:28801800-28802200	Enhancers	Aorta	Aorta
40	chr21:28801800-28802200	Enhancers	Ovary	ovary
41	chr21:28801800-28802200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr21:28801800-28802200	Enhancers	Right Ventricle	heart
43	chr21:28801800-28802800	Enhancers	Adipose Nuclei	Adipose
44	chr21:28801800-28802800	Enhancers	Fetal Stomach	stomach
45	chr21:28801800-28803000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:28801800-28803000	Enhancers	Colon Smooth Muscle	Colon
47	chr21:28801800-28803000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr21:28801800-28803200	Enhancers	NHLF	lung
49	chr21:28801800-28803200	Enhancers	Osteobl	bone
50	chr21:28801800-28803400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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