Variant report

Variant	nsv1056833
Chromosome Location	chr21:17018524-17086705
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	ARID3A	chr21:17032123-17032416	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:17054516-17054801	HepG2	liver:	n/a	n/a
3	ATF1	chr21:17074263-17074486	K562	blood:	n/a	n/a
4	ATF1	chr21:17079030-17079390	K562	blood:	n/a	n/a
5	ATF1	chr21:17067875-17067961	K562	blood:	n/a	n/a
6	BRCA1	chr21:17041624-17041993	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr21:17054673-17054821	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr21:17039390-17039723	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr21:17078887-17079488	HCT-116	colon:	n/a	n/a
10	CBX3	chr21:17078978-17079442	HCT-116	colon:	n/a	n/a
11	CEBPB	chr21:17039179-17039842	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
12	CEBPB	chr21:17039304-17039605	HepG2	liver:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
13	CEBPB	chr21:17078994-17079335	IMR90	lung:	n/a	n/a
14	CEBPB	chr21:17054515-17055707	Hela-S3	cervix:	n/a	chr21:17054766-17054777
15	CEBPB	chr21:17054508-17055010	HCT-116	colon:	n/a	chr21:17054766-17054777
16	CEBPB	chr21:17054430-17055083	A549	lung:	n/a	chr21:17054766-17054777
17	CEBPB	chr21:17054570-17054843	K562	blood:	n/a	chr21:17054766-17054777
18	CEBPB	chr21:17054590-17055002	HCT-116	colon:	n/a	chr21:17054766-17054777
19	CEBPB	chr21:17039338-17039831	MCF-7	breast:	n/a	chr21:17039459-17039470 chr21:17039562-17039573
20	CEBPB	chr21:17055270-17055678	IMR90	lung:	n/a	n/a
21	CEBPB	chr21:17054565-17054894	H1-hESC	embryonic stem cell:	n/a	chr21:17054766-17054777
22	CEBPB	chr21:17059584-17059669	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr21:17039258-17039676	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
24	CEBPB	chr21:17054549-17054952	MCF-7	breast:	n/a	chr21:17054766-17054777
25	CEBPB	chr21:17054533-17055014	K562	blood:	n/a	chr21:17054766-17054777
26	CEBPB	chr21:17055308-17055677	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr21:17054487-17054984	ECC-1	luminal epithelium:	n/a	chr21:17054766-17054777
28	CEBPB	chr21:17041613-17041983	IMR90	lung:	n/a	chr21:17041795-17041808
29	CEBPB	chr21:17054489-17054934	HepG2	liver:	n/a	chr21:17054766-17054777
30	CEBPB	chr21:17039193-17039779	Hela-S3	cervix:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
31	CEBPB	chr21:17041666-17041936	MCF-7	breast:	n/a	chr21:17041795-17041808
32	CEBPB	chr21:17039251-17039745	IMR90	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
33	CEBPB	chr21:17041560-17042081	MCF-7	breast:	n/a	chr21:17041795-17041808
34	CEBPB	chr21:17054544-17054926	A549	lung:	n/a	chr21:17054766-17054777
35	CEBPB	chr21:17055406-17055566	A549	lung:	n/a	n/a
36	CEBPB	chr21:17055255-17055745	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr21:17054562-17054793	K562	blood:	n/a	chr21:17054766-17054777
38	CEBPB	chr21:17041555-17042095	Hela-S3	cervix:	n/a	chr21:17041795-17041808
39	CEBPB	chr21:17054531-17054951	MCF-7	breast:	n/a	chr21:17054766-17054777
40	CEBPB	chr21:17054499-17054968	ECC-1	luminal epithelium:	n/a	chr21:17054766-17054777
41	CEBPB	chr21:17054610-17054837	HepG2	liver:	n/a	chr21:17054766-17054777
42	CEBPB	chr21:17060964-17061559	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr21:17054536-17054941	HepG2	liver:	n/a	chr21:17054766-17054777
44	CEBPB	chr21:17054520-17054954	IMR90	lung:	n/a	chr21:17054766-17054777
45	CEBPB	chr21:17059446-17059809	IMR90	lung:	n/a	n/a
46	CEBPB	chr21:17049271-17049637	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr21:17054518-17054871	A549	lung:	n/a	chr21:17054766-17054777
48	CEBPB	chr21:17078905-17079547	HCT-116	colon:	n/a	n/a
49	CEBPB	chr21:17039287-17039670	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
50	CEBPB	chr21:17054543-17054907	HepG2	liver:	n/a	chr21:17054766-17054777

No.	Distal block	Cell Line	Cell type
1	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
2	chr21:17057202..17059919-chr21:17100996..17103879,3	MCF-7	breast:
3	chr21:17064242..17066910-chr21:17102295..17103877,2	K562	blood:
4	chr21:17025826..17028005-chr21:17208818..17210629,2	MCF-7	breast:
5	chr21:17076130..17076863-chr4:168171748..168172510,2	MCF-7	breast:
6	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
7	chr21:17015627..17017680-chr21:17022587..17025053,2	K562	blood:
8	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
9	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:
10	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
11	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
12	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:
13	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:
14	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:
15	chr21:17084081..17086628-chr21:17102246..17103996,2	K562	blood:
16	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:
17	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-8	chr21:17066619-17067073	NONHSAT081210
2	lnc-NRIP1-8	chr21:17068204-17068900	NONHSAT081210
3	lnc-NRIP1-9	chr21:17049870-17049987	NONHSAT081208
4	lnc-NRIP1-9	chr21:17048709-17048960	NONHSAT081208

Variant related genes	Relation type
ENSG00000238591	TF binding region
ENSG00000221497	TF binding region
RAD23BLP	TF binding region
ENSG00000155313	chromatin interactions

Extended variants
information (count: 2860 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2860 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192574212	chr21:17018525-17018526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184849756	chr21:17018547-17018548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574465448	chr21:17018549-17018550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543477792	chr21:17018584-17018585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563274886	chr21:17018686-17018687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576866719	chr21:17018715-17018716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545805671	chr21:17018760-17018761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559730683	chr21:17018797-17018798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113132566	chr21:17018809-17018810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528363547	chr21:17018833-17018834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114044117	chr21:17018910-17018911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561884902	chr21:17018927-17018928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75648031	chr21:17019008-17019009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189722993	chr21:17019009-17019010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569807927	chr21:17019015-17019016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78834421	chr21:17019032-17019033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71819299	chr21:17019034-17019035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565408088	chr21:17019102-17019103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181172808	chr21:17019165-17019166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566069705	chr21:17019178-17019179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535293746	chr21:17019211-17019212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150511760	chr21:17019221-17019222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548559569	chr21:17019222-17019223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574931562	chr21:17019239-17019240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6517570	chr21:17019264-17019265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557132314	chr21:17019267-17019268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186220618	chr21:17019268-17019269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545842145	chr21:17019282-17019283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558968564	chr21:17019310-17019311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559374850	chr21:17019311-17019312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573069545	chr21:17019312-17019313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112376903	chr21:17019314-17019315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542078388	chr21:17019329-17019330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561744341	chr21:17019357-17019358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9979122	chr21:17019380-17019381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527694147	chr21:17019471-17019472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563469594	chr21:17019487-17019488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547649397	chr21:17019490-17019491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532457793	chr21:17019618-17019619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145534151	chr21:17019629-17019630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566039671	chr21:17019649-17019650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535011554	chr21:17019660-17019661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141731999	chr21:17019669-17019670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568648057	chr21:17019690-17019691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537686371	chr21:17019693-17019694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13049803	chr21:17019706-17019707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570595332	chr21:17019717-17019718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34241465	chr21:17019767-17019768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539504758	chr21:17019787-17019788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553024338	chr21:17019792-17019793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17014400-17021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:17018200-17018800	Enhancers	HSMMtube	muscle
3	chr21:17021600-17022400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr21:17022400-17025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:17022600-17022800	Enhancers	Fetal Brain Male	brain
6	chr21:17022800-17023800	Weak transcription	Fetal Brain Male	brain
7	chr21:17023800-17024200	Enhancers	Fetal Brain Male	brain
8	chr21:17025600-17026400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr21:17026400-17026600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr21:17026600-17026800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr21:17026600-17027000	Enhancers	Gastric	stomach
12	chr21:17026800-17031000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr21:17029600-17029800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr21:17030400-17031600	Enhancers	Fetal Intestine Large	intestine
15	chr21:17030400-17032000	Enhancers	Fetal Intestine Small	intestine
16	chr21:17030600-17030800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:17030600-17031400	Enhancers	A549	lung
18	chr21:17030800-17031400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr21:17031000-17032400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr21:17031400-17031600	Weak transcription	A549	lung
21	chr21:17031400-17033200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr21:17031600-17032000	Enhancers	Duodenum Mucosa	Duodenum
23	chr21:17031600-17032600	Weak transcription	Fetal Intestine Large	intestine
24	chr21:17031600-17033000	Active TSS	A549	lung
25	chr21:17031600-17033000	Enhancers	HepG2	liver
26	chr21:17031800-17032200	Enhancers	NHDF-Ad	bronchial
27	chr21:17031800-17032800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:17031800-17032800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:17031800-17032800	Enhancers	Rectal Smooth Muscle	rectum
30	chr21:17031800-17032800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr21:17031800-17033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:17031800-17033000	Enhancers	Liver	Liver
33	chr21:17031800-17034000	Enhancers	Fetal Lung	lung
34	chr21:17032000-17032400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr21:17032000-17032400	Enhancers	Small Intestine	intestine
36	chr21:17032000-17032600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:17032000-17032600	Enhancers	HSMMtube	muscle
38	chr21:17032000-17032800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr21:17032000-17033000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:17032000-17033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:17032000-17033000	Weak transcription	Fetal Intestine Small	intestine
42	chr21:17032000-17033200	Enhancers	NHEK	skin
43	chr21:17032000-17033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:17032000-17033400	Enhancers	Fetal Kidney	kidney
45	chr21:17032200-17032400	Enhancers	Psoas Muscle	Psoas
46	chr21:17032200-17032600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:17032200-17032600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:17032200-17032600	Weak transcription	NHDF-Ad	bronchial
49	chr21:17032200-17032800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:17032200-17032800	Enhancers	Colon Smooth Muscle	Colon

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