Variant report

Variant	esv3333927
Chromosome Location	chr21:28803698-28855312
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	CEBPB	chr21:28853049-28853475	IMR90	lung:	n/a	n/a
2	CEBPB	chr21:28849680-28849941	HepG2	liver:	n/a	chr21:28849816-28849827
3	CEBPB	chr21:28838630-28838778	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr21:28849661-28849980	IMR90	lung:	n/a	chr21:28849816-28849827
5	CTCF	chr21:28838660-28838810	NB4	blood:	n/a	n/a
6	CTCF	chr21:28849142-28849327	LNCaP	prostate:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
7	CTCF	chr21:28849140-28849290	SAEC	small airway:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
8	CTCF	chr21:28838660-28838810	AG10803	skin:	n/a	n/a
9	CTCF	chr21:28849140-28849290	HFF	foreskin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
10	CTCF	chr21:28849160-28849310	HMEC	breast:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
11	CTCF	chr21:28838660-28838810	AG04449	skin:	n/a	n/a
12	CTCF	chr21:28849160-28849310	AoAF	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
13	CTCF	chr21:28838682-28838684	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr21:28849180-28849330	HCPEpiC	choroid plexus:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
15	CTCF	chr21:28849180-28849330	BJ	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
16	CTCF	chr21:28849140-28849290	HUVEC	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
17	CTCF	chr21:28849156-28849291	Spleen_OC	spleen:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
18	CTCF	chr21:28849144-28849312	Kidney_OC	kidney:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
19	CTCF	chr21:28838680-28838830	AG04450	lung:	n/a	n/a
20	CTCF	chr21:28838800-28838950	NHEK	skin:	n/a	n/a
21	CTCF	chr21:28849120-28849270	HMF	breast:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
22	CTCF	chr21:28838680-28838830	HMF	breast:	n/a	n/a
23	CTCF	chr21:28838720-28838870	RPTEC	kidney:	n/a	n/a
24	CTCF	chr21:28815973-28816019	Lung_OC	lung:	n/a	n/a
25	CTCF	chr21:28838620-28838770	AG09319	gingival:	n/a	n/a
26	CTCF	chr21:28849200-28849350	BJ	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
27	CTCF	chr21:28838660-28838810	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr21:28849200-28849350	BE2_C	brain:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
29	CTCF	chr21:28849140-28849290	AG04449	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
30	CTCF	chr21:28849160-28849310	AG09309	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
31	CTCF	chr21:28838600-28838750	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr21:28849160-28849310	SK-N-SH_RA	brain:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
33	CTCF	chr21:28838690-28838762	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr21:28838600-28838750	HVMF	connective:	n/a	n/a
35	CTCF	chr21:28849160-28849310	AG04450	lung:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
36	CTCF	chr21:28838660-28838810	AG09319	gingival:	n/a	n/a
37	CTCF	chr21:28838680-28838830	HCM	heart:	n/a	n/a
38	CTCF	chr21:28849140-28849290	HBMEC	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
39	CTCF	chr21:28838700-28838850	HPF	lung:	n/a	n/a
40	CTCF	chr21:28849120-28849270	NHLF	lung:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
41	CTCF	chr21:28838680-28838830	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr21:28838560-28838710	HVMF	connective:	n/a	n/a
43	CTCF	chr21:28838640-28838790	HEK293	kidney:	n/a	n/a
44	CTCF	chr21:28849160-28849310	AG10803	skin:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
45	CTCF	chr21:28849120-28849270	HVMF	connective:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
46	CTCF	chr21:28849160-28849310	HBMEC	blood vessel:	n/a	chr21:28849231-28849239 chr21:28849221-28849242
47	CTCF	chr21:28838586-28838860	IMR90	lung:	n/a	n/a
48	CTCF	chr21:28838694-28838794	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr21:28838640-28838790	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:28849160-28849310	HPAF	blood vessel:	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	chr21:28814417..28816406-chr21:28820762..28822994,2	K562	blood:
4	chr21:28848733..28850996-chr21:28945586..28948554,2	K562	blood:
5	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:
6	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
7	chr21:28829911..28831572-chr21:28838186..28839877,2	K562	blood:
8	chr21:28848903..28851024-chr21:28851803..28854078,2	K562	blood:
9	chr21:28838195..28839749-chr21:28841627..28844101,2	K562	blood:
10	chr21:28848903..28851698-chr21:28851803..28854078,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP16-13	chr21:28834246-28834547	ucscGeneNc_uc002ymn_2
2	lnc-USP16-13	chr21:28833511-28834077	ucscGeneNc_uc002ymn_2
3	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081572
4	lnc-USP16-13	chr21:28833511-28833721	NONHSAT081572
5	lnc-USP16-13	chr21:28834246-28834548	NONHSAT081573
6	lnc-ADAMTS5-1	chr21:28820697-28820898	ENSG00000231236.2
7	lnc-USP16-13	chr21:28833511-28834077	NONHSAT081573

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

Extended variants
information (count: 1567 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189289333	chr21:28803742-28803743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182031362	chr21:28803747-28803748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145693508	chr21:28803756-28803757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539199511	chr21:28803758-28803759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186550111	chr21:28803784-28803785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2830939	chr21:28803789-28803790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575983888	chr21:28803792-28803793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116190148	chr21:28803813-28803814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555716269	chr21:28803824-28803825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572243769	chr21:28803879-28803880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541229022	chr21:28803889-28803890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62221662	chr21:28803893-28803894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373056435	chr21:28803901-28803902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs239647	chr21:28803915-28803916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs239646	chr21:28803945-28803946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72113855	chr21:28803963-28803964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576919474	chr21:28803968-28803969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71317499	chr21:28803969-28803970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76309220	chr21:28803979-28803980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531642468	chr21:28803986-28803987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181147313	chr21:28803992-28803993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186649311	chr21:28803997-28803998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548653027	chr21:28804001-28804002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547577597	chr21:28804042-28804043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571003321	chr21:28804052-28804053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144045401	chr21:28804073-28804074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556022936	chr21:28804091-28804092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111989252	chr21:28804101-28804102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569602398	chr21:28804108-28804109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535791513	chr21:28804128-28804129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71270659	chr21:28804143-28804144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535466686	chr21:28804145-28804146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115009144	chr21:28804160-28804161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113119693	chr21:28804165-28804166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115978490	chr21:28812810-28812811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534061070	chr21:28812831-28812832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184675617	chr21:28812857-28812858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576923569	chr21:28812926-28812927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189819563	chr21:28812937-28812938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs142345014	chr21:28812942-28812943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4353721	chr21:28812963-28812964	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575787053	chr21:28812969-28812970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544751181	chr21:28812971-28812972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4544522	chr21:28812980-28812981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56174875	chr21:28812993-28812994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77316664	chr21:28813004-28813005	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560629362	chr21:28813045-28813046	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs116374149	chr21:28813048-28813049	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs386817591	chr21:28813051-28813052	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs239642	chr21:28813052-28813053	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28802400-28804200	Weak transcription	HSMM	muscle
2	chr21:28812800-28813200	ZNF genes & repeats	Spleen	Spleen
3	chr21:28813000-28813400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr21:28813200-28817600	Weak transcription	Spleen	Spleen
5	chr21:28819800-28821000	Enhancers	Fetal Lung	lung
6	chr21:28820000-28821400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr21:28820400-28820800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:28820400-28820800	Enhancers	Psoas Muscle	Psoas
9	chr21:28820400-28821000	Enhancers	Adipose Nuclei	Adipose
10	chr21:28820600-28821000	Enhancers	Fetal Stomach	stomach
11	chr21:28820800-28821600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:28820800-28822000	Enhancers	HUVEC	blood vessel
13	chr21:28820800-28823800	Weak transcription	Psoas Muscle	Psoas
14	chr21:28821000-28822400	Weak transcription	Adipose Nuclei	Adipose
15	chr21:28821000-28825000	Weak transcription	Pancreas	Pancrea
16	chr21:28821200-28821400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr21:28821200-28821800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:28821400-28821800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr21:28821800-28824600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr21:28822000-28822800	Weak transcription	HUVEC	blood vessel
21	chr21:28822400-28824400	Enhancers	Adipose Nuclei	Adipose
22	chr21:28822600-28823200	Enhancers	Small Intestine	intestine
23	chr21:28822800-28823000	Enhancers	Left Ventricle	heart
24	chr21:28822800-28823000	Enhancers	HUVEC	blood vessel
25	chr21:28822800-28823200	Enhancers	Fetal Intestine Large	intestine
26	chr21:28822800-28823400	Enhancers	Spleen	Spleen
27	chr21:28823000-28823400	Enhancers	Dnd41	blood
28	chr21:28823000-28823800	Enhancers	Fetal Intestine Small	intestine
29	chr21:28823000-28823800	Weak transcription	Left Ventricle	heart
30	chr21:28823400-28824600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:28823800-28824000	Enhancers	Psoas Muscle	Psoas
32	chr21:28823800-28824400	Enhancers	Left Ventricle	heart
33	chr21:28824400-28824800	Weak transcription	Left Ventricle	heart
34	chr21:28824600-28825000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr21:28825000-28825200	Enhancers	Left Ventricle	heart
36	chr21:28825000-28825200	Enhancers	Lung	lung
37	chr21:28825000-28825200	Enhancers	Pancreas	Pancrea
38	chr21:28825000-28825600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr21:28825200-28825600	Weak transcription	Pancreas	Pancrea
40	chr21:28826200-28827000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:28826200-28827000	Enhancers	NHEK	skin
42	chr21:28827000-28830200	Weak transcription	NHEK	skin
43	chr21:28827000-28832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:28830200-28833000	Enhancers	NHEK	skin
45	chr21:28830400-28833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:28832000-28833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:28832200-28832600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr21:28833000-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:28833000-28835400	Weak transcription	NHEK	skin
50	chr21:28833200-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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