Variant report

Variant	esv1844987
Chromosome Location	chr21:17033833-17088977
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	chr21:17054516-17054801	HepG2	liver:	n/a	n/a
2	ATF1	chr21:17079030-17079390	K562	blood:	n/a	n/a
3	ATF1	chr21:17074263-17074486	K562	blood:	n/a	n/a
4	ATF1	chr21:17067875-17067961	K562	blood:	n/a	n/a
5	BRCA1	chr21:17054673-17054821	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr21:17039390-17039723	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr21:17041624-17041993	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr21:17078978-17079442	HCT-116	colon:	n/a	n/a
9	CBX3	chr21:17078887-17079488	HCT-116	colon:	n/a	n/a
10	CEBPB	chr21:17039287-17039670	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
11	CEBPB	chr21:17054533-17055014	K562	blood:	n/a	chr21:17054766-17054777
12	CEBPB	chr21:17041560-17042081	MCF-7	breast:	n/a	chr21:17041795-17041808
13	CEBPB	chr21:17039179-17039842	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
14	CEBPB	chr21:17054565-17054894	H1-hESC	embryonic stem cell:	n/a	chr21:17054766-17054777
15	CEBPB	chr21:17039251-17039745	IMR90	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
16	CEBPB	chr21:17041666-17041936	MCF-7	breast:	n/a	chr21:17041795-17041808
17	CEBPB	chr21:17039338-17039831	MCF-7	breast:	n/a	chr21:17039459-17039470 chr21:17039562-17039573
18	CEBPB	chr21:17055255-17055745	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr21:17055406-17055566	A549	lung:	n/a	n/a
20	CEBPB	chr21:17054590-17055002	HCT-116	colon:	n/a	chr21:17054766-17054777
21	CEBPB	chr21:17078905-17079547	HCT-116	colon:	n/a	n/a
22	CEBPB	chr21:17054531-17054951	MCF-7	breast:	n/a	chr21:17054766-17054777
23	CEBPB	chr21:17039258-17039676	A549	lung:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
24	CEBPB	chr21:17059584-17059669	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr21:17054489-17054934	HepG2	liver:	n/a	chr21:17054766-17054777
26	CEBPB	chr21:17054515-17055707	Hela-S3	cervix:	n/a	chr21:17054766-17054777
27	CEBPB	chr21:17054544-17054926	A549	lung:	n/a	chr21:17054766-17054777
28	CEBPB	chr21:17059446-17059809	IMR90	lung:	n/a	n/a
29	CEBPB	chr21:17055308-17055677	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr21:17054570-17054843	K562	blood:	n/a	chr21:17054766-17054777
31	CEBPB	chr21:17054499-17054968	ECC-1	luminal epithelium:	n/a	chr21:17054766-17054777
32	CEBPB	chr21:17049271-17049637	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr21:17054430-17055083	A549	lung:	n/a	chr21:17054766-17054777
34	CEBPB	chr21:17054536-17054941	HepG2	liver:	n/a	chr21:17054766-17054777
35	CEBPB	chr21:17054508-17055010	HCT-116	colon:	n/a	chr21:17054766-17054777
36	CEBPB	chr21:17060867-17061270	IMR90	lung:	n/a	n/a
37	CEBPB	chr21:17039304-17039605	HepG2	liver:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
38	CEBPB	chr21:17054610-17054837	HepG2	liver:	n/a	chr21:17054766-17054777
39	CEBPB	chr21:17039193-17039779	Hela-S3	cervix:	n/a	chr21:17039307-17039320 chr21:17039459-17039470 chr21:17039562-17039573
40	CEBPB	chr21:17041555-17042095	Hela-S3	cervix:	n/a	chr21:17041795-17041808
41	CEBPB	chr21:17054518-17054871	A549	lung:	n/a	chr21:17054766-17054777
42	CEBPB	chr21:17054549-17054952	MCF-7	breast:	n/a	chr21:17054766-17054777
43	CEBPB	chr21:17054487-17054984	ECC-1	luminal epithelium:	n/a	chr21:17054766-17054777
44	CEBPB	chr21:17078994-17079335	IMR90	lung:	n/a	n/a
45	CEBPB	chr21:17054562-17054793	K562	blood:	n/a	chr21:17054766-17054777
46	CEBPB	chr21:17054520-17054954	IMR90	lung:	n/a	chr21:17054766-17054777
47	CEBPB	chr21:17060964-17061559	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr21:17041613-17041983	IMR90	lung:	n/a	chr21:17041795-17041808
49	CEBPB	chr21:17054543-17054907	HepG2	liver:	n/a	chr21:17054766-17054777
50	CEBPB	chr21:17055270-17055678	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
2	chr21:17084081..17086628-chr21:17102246..17103996,2	K562	blood:
3	chr21:17077309..17079464-chr21:17110319..17112790,2	K562	blood:
4	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
5	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:
6	chr21:17087356..17090819-chr21:17092657..17096162,4	K562	blood:
7	chr21:17052353..17053898-chr21:17054615..17056835,2	K562	blood:
8	chr21:17027863..17030532-chr21:17032881..17035751,2	K562	blood:
9	chr21:17087926..17089918-chr21:17092657..17095382,2	K562	blood:
10	chr21:17088463..17090416-chr21:17100632..17102945,2	MCF-7	breast:
11	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
12	chr21:17083757..17086090-chr21:17088787..17091203,2	K562	blood:
13	chr21:17044032..17047282-chr21:17048018..17052321,5	K562	blood:
14	chr21:17076130..17076863-chr4:168171748..168172510,2	MCF-7	breast:
15	chr21:17064242..17066910-chr21:17102295..17103877,2	K562	blood:
16	chr21:17057202..17059919-chr21:17100996..17103879,3	MCF-7	breast:
17	chr21:17086804..17089683-chr21:17199530..17202336,2	K562	blood:
18	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:
19	chr21:17084590..17087490-chr21:17087588..17090287,2	K562	blood:
20	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:

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
ENSG00000221497	TF binding region
ENSG00000238591	TF binding region
RAD23BLP	TF binding region
ENSG00000155313	chromatin interactions

Extended variants
information (count: 2258 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2258 , 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	rs7275853	chr21:17033833-17033834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562654212	chr21:17033867-17033868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531603003	chr21:17033896-17033897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551292288	chr21:17033904-17033905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369925989	chr21:17033909-17033910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551276769	chr21:17033921-17033922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533968918	chr21:17033954-17033955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547163143	chr21:17033969-17033970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17209530	chr21:17033974-17033975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35688235	chr21:17033982-17033983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537654710	chr21:17033998-17033999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535886598	chr21:17034035-17034036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184752414	chr21:17034036-17034037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575850922	chr21:17034038-17034039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373421655	chr21:17034042-17034043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188678090	chr21:17034048-17034049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73353499	chr21:17034066-17034067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138265518	chr21:17034069-17034070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540403048	chr21:17034076-17034077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559847639	chr21:17034132-17034133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111831592	chr21:17034151-17034152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192826155	chr21:17034180-17034181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184766843	chr21:17034216-17034217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142989182	chr21:17034242-17034243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9984630	chr21:17034324-17034325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553442533	chr21:17034326-17034327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2179026	chr21:17034353-17034354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527511791	chr21:17034366-17034367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547599526	chr21:17034384-17034385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9976285	chr21:17034408-17034409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535925074	chr21:17034483-17034484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367816464	chr21:17034535-17034536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569274059	chr21:17034539-17034540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189227851	chr21:17034579-17034580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16988288	chr21:17034588-17034589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575762909	chr21:17034612-17034613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577899830	chr21:17034631-17034632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534138192	chr21:17034653-17034654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146145848	chr21:17034722-17034723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573402612	chr21:17034750-17034751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2823423	chr21:17034757-17034758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555978198	chr21:17034779-17034780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199552106	chr21:17034787-17034788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576037424	chr21:17034815-17034816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386816533	chr21:17034834-17034835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140192538	chr21:17034835-17034836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143261959	chr21:17034853-17034854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2823424	chr21:17034857-17034858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193252762	chr21:17034868-17034869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527549599	chr21:17034891-17034892	Weak transcription Enhancers	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:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17031800-17034000	Enhancers	Fetal Lung	lung
2	chr21:17032600-17034200	Enhancers	Fetal Intestine Large	intestine
3	chr21:17032800-17034000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr21:17032800-17038800	Weak transcription	NHDF-Ad	bronchial
5	chr21:17033000-17034000	Enhancers	A549	lung
6	chr21:17033000-17034200	Enhancers	Fetal Intestine Small	intestine
7	chr21:17033400-17038800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:17034000-17034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:17034000-17039000	Weak transcription	A549	lung
10	chr21:17034400-17036200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr21:17036400-17037200	Enhancers	Placenta	Placenta
12	chr21:17037200-17038000	Weak transcription	Placenta	Placenta
13	chr21:17037400-17044000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:17038000-17039200	Enhancers	Placenta	Placenta
15	chr21:17038800-17039200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:17038800-17039200	Enhancers	Esophagus	oesophagus
17	chr21:17038800-17039200	Enhancers	Pancreas	Pancrea
18	chr21:17038800-17039200	Enhancers	Psoas Muscle	Psoas
19	chr21:17038800-17039400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:17038800-17039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:17038800-17039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:17038800-17039400	Enhancers	Hela-S3	cervix
23	chr21:17038800-17039400	Enhancers	HMEC	breast
24	chr21:17038800-17039400	Enhancers	HSMM	muscle
25	chr21:17038800-17039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:17038800-17040200	Enhancers	NHEK	skin
27	chr21:17038800-17040400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr21:17038800-17040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:17038800-17040400	Enhancers	NHDF-Ad	bronchial
30	chr21:17038800-17041000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:17039000-17039200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:17039000-17039600	Enhancers	NHLF	lung
33	chr21:17039000-17039800	Enhancers	A549	lung
34	chr21:17039000-17040200	Enhancers	Osteobl	bone
35	chr21:17039200-17040200	Weak transcription	Psoas Muscle	Psoas
36	chr21:17039200-17041600	Weak transcription	Placenta	Placenta
37	chr21:17039200-17049800	Weak transcription	Esophagus	oesophagus
38	chr21:17039400-17039800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:17039400-17039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:17039400-17039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:17039400-17039800	Weak transcription	Hela-S3	cervix
42	chr21:17039400-17039800	Weak transcription	HMEC	breast
43	chr21:17039400-17039800	Weak transcription	HSMM	muscle
44	chr21:17039600-17040000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:17039600-17040000	Weak transcription	NHLF	lung
46	chr21:17039800-17040000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:17039800-17040000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:17039800-17040200	Enhancers	Fetal Heart	heart
49	chr21:17039800-17040200	Weak transcription	A549	lung
50	chr21:17039800-17040400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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