Variant report

Variant	esv1831608
Chromosome Location	chr21:28659037-28738059
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	BRCA1	chr21:28663351-28663546	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr21:28673104-28673830	IMR90	lung:	n/a	chr21:28673284-28673295 chr21:28673656-28673669
3	CEBPB	chr21:28658999-28659336	IMR90	lung:	n/a	chr21:28659176-28659187 chr21:28659174-28659187 chr21:28659174-28659185
4	CEBPB	chr21:28659044-28659334	HepG2	liver:	n/a	chr21:28659176-28659187 chr21:28659174-28659187 chr21:28659174-28659185
5	CEBPB	chr21:28663384-28663586	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr21:28701744-28702108	IMR90	lung:	n/a	n/a
7	CEBPB	chr21:28662384-28662796	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr21:28659145-28659208	A549	lung:	n/a	chr21:28659176-28659187 chr21:28659174-28659187 chr21:28659174-28659185
9	CTCF	chr21:28687816-28687919	Gliobla	brain:	n/a	n/a
10	CTCF	chr21:28734709-28734819	Pancreas_OC	pancreas:	n/a	chr21:28734755-28734776
11	CTCF	chr21:28734620-28734770	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr21:28734620-28734770	AG09309	skin:	n/a	n/a
13	CTCF	chr21:28734500-28734650	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr21:28708087-28708113	LNCaP	prostate:	n/a	n/a
15	CTCF	chr21:28734700-28734850	HCPEpiC	choroid plexus:	n/a	chr21:28734755-28734776
16	CTCF	chr21:28734663-28734867	Hela-S3	cervix:	n/a	chr21:28734755-28734776
17	CTCF	chr21:28734740-28734890	BJ	skin:	n/a	chr21:28734755-28734776
18	CTCF	chr21:28734716-28734830	Fibrobl	skin:	n/a	chr21:28734755-28734776
19	CTCF	chr21:28734720-28734870	Caco-2	colon:	n/a	chr21:28734755-28734776
20	CTCF	chr21:28734740-28734890	RPTEC	kidney:	n/a	chr21:28734755-28734776
21	CTCF	chr21:28734600-28734870	HVMF	connective:	n/a	chr21:28734755-28734776
22	CTCF	chr21:28734660-28734869	LNCaP	prostate:	n/a	chr21:28734755-28734776
23	CTCF	chr21:28734620-28734770	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr21:28734480-28734630	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr21:28734700-28734850	BE2_C	brain:	n/a	chr21:28734755-28734776
26	CTCF	chr21:28687838-28687840	LNCaP	prostate:	n/a	n/a
27	CTCF	chr21:28734690-28734817	ProgFib	skin:	n/a	chr21:28734755-28734776
28	CTCF	chr21:28687760-28687910	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr21:28734680-28734830	HRE	kidney:	n/a	chr21:28734755-28734776
30	CTCF	chr21:28734520-28734670	BJ	skin:	n/a	n/a
31	CTCF	chr21:28734540-28734690	HRE	kidney:	n/a	n/a
32	CTCF	chr21:28734720-28734870	SAEC	small airway:	n/a	chr21:28734755-28734776
33	CTCF	chr21:28734700-28734850	AG10803	skin:	n/a	chr21:28734755-28734776
34	CTCF	chr21:28734740-28734788	MCF-7	breast:	n/a	chr21:28734755-28734776
35	CTCF	chr21:28734640-28734790	HMF	breast:	n/a	chr21:28734755-28734776
36	CTCF	chr21:28734702-28734838	NHEK	skin:	n/a	chr21:28734755-28734776
37	CTCF	chr21:28734671-28734958	H1-hESC	embryonic stem cell:	n/a	chr21:28734755-28734776
38	CTCF	chr21:28673110-28673145	Fibrobl	skin:	n/a	n/a
39	CTCF	chr21:28734700-28734850	NHEK	skin:	n/a	chr21:28734755-28734776
40	CTCF	chr21:28734700-28734850	HEK293	kidney:	n/a	chr21:28734755-28734776
41	CTCF	chr21:28734720-28734870	AG09319	gingival:	n/a	chr21:28734755-28734776
42	CTCF	chr21:28734723-28734810	MCF-7	breast:	n/a	chr21:28734755-28734776
43	CTCF	chr21:28734641-28734867	Gliobla	brain:	n/a	chr21:28734755-28734776
44	CTCF	chr21:28734680-28734830	AG10803	skin:	n/a	chr21:28734755-28734776
45	CTCF	chr21:28734760-28734910	AG04450	lung:	n/a	n/a
46	CTCF	chr21:28734720-28734870	NHDF-neo	bronchial:	n/a	chr21:28734755-28734776
47	CTCF	chr21:28734740-28734890	SAEC	small airway:	n/a	chr21:28734755-28734776
48	CTCF	chr21:28687740-28687890	HMF	breast:	n/a	n/a
49	CTCF	chr21:28734640-28734790	AoAF	blood vessel:	n/a	chr21:28734755-28734776
50	CTCF	chr21:28734720-28734870	AG04449	skin:	n/a	chr21:28734755-28734776

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:
2	chr21:28670191..28672076-chr21:28673171..28674727,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-7	chr21:28735032-28735132	ENSG00000236332
2	lnc-ADAMTS5-4	chr21:28724414-28724628	l_2187_chr21:28711255-28725596_prostate
3	lnc-ADAMTS5-4	chr21:28725315-28725451	l_2187_chr21:28711255-28725596_prostate
4	lnc-ADAMTS5-4	chr21:28725568-28725596	l_2187_chr21:28711255-28725596_prostate
5	lnc-ADAMTS5-1	chr21:28731204-28733475	ENSG00000231236.2
6	lnc-ADAMTS5-4	chr21:28711256-28711350	l_2187_chr21:28711255-28725596_prostate
7	lnc-GABPA-7	chr21:28733483-28733772	ENSG00000236332
8	lnc-ADAMTS5-5	chr21:28733502-28739560	l_2188_chr21:28733501-28920917_placenta

Variant related genes	Relation type
ENSG00000236332	TF binding region

Extended variants
information (count: 2287 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2287 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830832	chr21:28659037-28659038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1477721	chr21:28659042-28659043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149602235	chr21:28659043-28659044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191187552	chr21:28659074-28659075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs466769	chr21:28659094-28659095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75761504	chr21:28659135-28659136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11088026	chr21:28659158-28659159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144395332	chr21:28659172-28659173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549150811	chr21:28659182-28659183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148386825	chr21:28659208-28659209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2830833	chr21:28659225-28659226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2830834	chr21:28659242-28659243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570922888	chr21:28659252-28659253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183094053	chr21:28659321-28659322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556798447	chr21:28659335-28659336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142240490	chr21:28659357-28659358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187758940	chr21:28659369-28659370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553181395	chr21:28659372-28659373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs452621	chr21:28659396-28659397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554101824	chr21:28659419-28659420	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545313443	chr21:28659429-28659430	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565136623	chr21:28659434-28659435	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533194694	chr21:28659464-28659465	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76461804	chr21:28659498-28659499	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563667674	chr21:28659525-28659526	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529368302	chr21:28659528-28659529	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549214244	chr21:28659532-28659533	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190378530	chr21:28659541-28659542	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574460684	chr21:28659620-28659621	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79096184	chr21:28659643-28659644	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528624479	chr21:28659660-28659661	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528275321	chr21:28659674-28659675	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551657898	chr21:28659686-28659687	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571878496	chr21:28659688-28659689	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75001524	chr21:28659701-28659702	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182930666	chr21:28659758-28659759	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567276839	chr21:28659803-28659804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377306040	chr21:28659804-28659805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs464400	chr21:28659870-28659871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553244684	chr21:28659878-28659879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573084308	chr21:28659914-28659915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146190560	chr21:28660013-28660014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139060711	chr21:28660067-28660068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575480896	chr21:28660100-28660101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543482065	chr21:28660108-28660109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144056940	chr21:28660126-28660127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529409939	chr21:28660128-28660129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571595857	chr21:28660144-28660145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150524277	chr21:28660151-28660152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369482635	chr21:28660206-28660207	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:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28650200-28662400	Weak transcription	NHDF-Ad	bronchial
2	chr21:28651400-28659400	Weak transcription	Fetal Lung	lung
3	chr21:28656400-28659400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:28659400-28659800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:28659400-28659800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:28659400-28660000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:28660000-28662000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:28662000-28662400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:28662000-28663000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:28662000-28663600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr21:28662000-28664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28662400-28662600	Active TSS	Osteobl	bone
13	chr21:28662400-28662800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28662400-28662800	Enhancers	Hela-S3	cervix
15	chr21:28662400-28663000	Enhancers	Fetal Kidney	kidney
16	chr21:28662400-28663200	Enhancers	NHDF-Ad	bronchial
17	chr21:28662400-28664800	Enhancers	HSMM	muscle
18	chr21:28662600-28662800	Flanking Active TSS	Osteobl	bone
19	chr21:28662600-28663000	Enhancers	NHLF	lung
20	chr21:28662600-28663400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:28662800-28663600	Weak transcription	Hela-S3	cervix
22	chr21:28662800-28663800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:28662800-28663800	Enhancers	Osteobl	bone
24	chr21:28663000-28664400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:28663200-28670400	Weak transcription	NHDF-Ad	bronchial
26	chr21:28663600-28663800	Enhancers	Hela-S3	cervix
27	chr21:28663800-28664400	Weak transcription	Osteobl	bone
28	chr21:28663800-28664600	Weak transcription	Hela-S3	cervix
29	chr21:28664400-28664600	Enhancers	Osteobl	bone
30	chr21:28664400-28665800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:28664600-28664800	Enhancers	Hela-S3	cervix
32	chr21:28664800-28665000	Enhancers	Fetal Kidney	kidney
33	chr21:28669000-28679800	Weak transcription	Psoas Muscle	Psoas
34	chr21:28670200-28671800	Enhancers	Ovary	ovary
35	chr21:28670400-28671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:28670400-28671800	Enhancers	NHDF-Ad	bronchial
37	chr21:28670400-28672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:28670600-28670800	Enhancers	Fetal Stomach	stomach
39	chr21:28670600-28671000	Enhancers	Brain Cingulate Gyrus	brain
40	chr21:28670600-28671200	Enhancers	Pancreas	Pancrea
41	chr21:28670800-28672200	Weak transcription	Fetal Stomach	stomach
42	chr21:28671200-28672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:28671600-28671800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:28671800-28673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:28671800-28673000	Weak transcription	NHDF-Ad	bronchial
46	chr21:28671800-28680400	Weak transcription	Ovary	ovary
47	chr21:28672000-28673000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:28672200-28672400	Enhancers	Fetal Stomach	stomach
49	chr21:28672400-28678000	Weak transcription	Fetal Stomach	stomach
50	chr21:28672800-28674600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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