Variant report

Variant	esv2508507
Chromosome Location	chr21:15338129-15397594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:398)
CpG islands
(count:1221)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:15346022-15346251	K562	blood:	n/a	n/a
2	ARID3A	chr21:15346922-15347270	K562	blood:	n/a	n/a
3	ATF1	chr21:15342677-15342811	K562	blood:	n/a	n/a
4	BACH1	chr21:15347039-15347218	K562	blood:	n/a	n/a
5	BATF	chr21:15392458-15392756	GM12878	blood:	n/a	chr21:15392633-15392644
6	BATF	chr21:15340450-15340827	GM12878	blood:	n/a	n/a
7	BATF	chr21:15341379-15341645	GM12878	blood:	n/a	chr21:15341542-15341553
8	BATF	chr21:15340388-15340909	GM12878	blood:	n/a	n/a
9	BATF	chr21:15392415-15392755	GM12878	blood:	n/a	chr21:15392633-15392644
10	BCL11A	chr21:15340406-15340552	GM12878	blood:	n/a	chr21:15340521-15340530
11	BCL11A	chr21:15340450-15340836	GM12878	blood:	n/a	chr21:15340521-15340530 chr21:15340574-15340583
12	BCL11A	chr21:15392494-15392819	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:15392562-15392775	GM12878	blood:	n/a	n/a
14	BHLHE40	chr21:15352447-15352823	K562	blood:	n/a	n/a
15	BHLHE40	chr21:15352368-15352716	GM12878	blood:	n/a	n/a
16	BHLHE40	chr21:15347507-15347656	K562	blood:	n/a	n/a
17	BHLHE40	chr21:15392603-15392625	GM12878	blood:	n/a	n/a
18	BRCA1	chr21:15352647-15352716	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr21:15352365-15352825	K562	blood:	n/a	n/a
20	CEBPB	chr21:15347031-15347099	K562	blood:	n/a	n/a
21	CEBPB	chr21:15346232-15346412	K562	blood:	n/a	n/a
22	CEBPD	chr21:15346361-15346742	K562	blood:	n/a	n/a
23	CHD2	chr21:15352525-15352732	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr21:15352660-15352810	GM12865	blood:	n/a	n/a
25	CTCF	chr21:15380186-15380229	GM12891	blood:	n/a	n/a
26	CTCF	chr21:15352520-15352670	Caco-2	colon:	n/a	n/a
27	CTCF	chr21:15352409-15352947	K562	blood:	n/a	n/a
28	CTCF	chr21:15352531-15353013	LNCaP	prostate:	n/a	n/a
29	CTCF	chr21:15397069-15397085	GM20000	blood:	n/a	n/a
30	CTCF	chr21:15352736-15352866	HepG2	liver:	n/a	n/a
31	CTCF	chr21:15352495-15352946	GM19238	blood:	n/a	n/a
32	CTCF	chr21:15352540-15352690	HMEC	breast:	n/a	n/a
33	CTCF	chr21:15353015-15353135	LNCaP	prostate:	n/a	n/a
34	CTCF	chr21:15356876-15356967	A549	lung:	n/a	chr21:15356916-15356934
35	CTCF	chr21:15352744-15352831	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr21:15352547-15352925	GM19239	blood:	n/a	n/a
37	CTCF	chr21:15352520-15352670	NHEK	skin:	n/a	n/a
38	CTCF	chr21:15369749-15369835	Lung_OC	lung:	n/a	n/a
39	CTCF	chr21:15352540-15352690	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr21:15352540-15352690	GM12869	blood:	n/a	n/a
41	CTCF	chr21:15352477-15352898	T-47D	breast:	n/a	n/a
42	CTCF	chr21:15352365-15352903	GM12878	blood:	n/a	n/a
43	CTCF	chr21:15380142-15380259	MCF-7	breast:	n/a	n/a
44	CTCF	chr21:15352563-15352876	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr21:15371415-15371492	LNCaP	prostate:	n/a	n/a
46	CTCF	chr21:15352553-15352817	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:15352322-15352926	K562	blood:	n/a	n/a
48	CTCF	chr21:15352540-15352690	GM12871	blood:	n/a	n/a
49	CTCF	chr21:15352554-15352888	GM12891	blood:	n/a	n/a
50	CTCF	chr21:15352580-15352804	HUVEC	blood vessel:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15352983-15353033	IMR90	lung:	fetal
2	chr21:15352983-15353033	IMR90	lung:	fetal
3	chr21:15352213-15352263	HIPEpiC	eye:	n/a
4	chr21:15353879-15353929	HL-60	blood:	n/a
5	chr21:15384512-15384562	SK-N-SH_RA	brain:	n/a
6	chr21:15386159-15386209	MCF-7	breast:	n/a
7	chr21:15355304-15355354	AG09309	skin:	n/a
8	chr21:15380395-15380445	HPAEpiC	pulmonary alveolar:	n/a
9	chr21:15386159-15386209	GM12878	blood:	n/a
10	chr21:15352848-15352898	HCT-116	colon:	n/a
11	chr21:15352608-15352658	AG09319	gingival:	n/a
12	chr21:15352608-15352658	SK-N-SH	brain:	n/a
13	chr21:15380395-15380445	AG09309	skin:	n/a
14	chr21:15383654-15383704	HAEpiC	amniotic membrane:	n/a
15	chr21:15352790-15352840	GM12891	blood:	n/a
16	chr21:15380395-15380445	NHDF-neo	bronchial:	n/a
17	chr21:15355304-15355354	SK-N-SH_RA	brain:	n/a
18	chr21:15383654-15383704	A549	lung:	n/a
19	chr21:15352641-15352691	GM12891	blood:	n/a
20	chr21:15352085-15352135	HepG2	liver:	n/a
21	chr21:15352790-15352840	NT2-D1	testis:	n/a
22	chr21:15352213-15352263	NHDF-neo	bronchial:	n/a
23	chr21:15383799-15383849	GM19239	blood:	n/a
24	chr21:15352790-15352840	LNCaP	prostate:	n/a
25	chr21:15352641-15352691	AG04450	lung:	fetal
26	chr21:15352957-15353007	LNCaP	prostate:	n/a
27	chr21:15352983-15353033	HCF	heart:	n/a
28	chr21:15352940-15352990	AG04449	skin:	fetal
29	chr21:15352641-15352691	HepG2	liver:	n/a
30	chr21:15352983-15353033	SKMC	muscle:	n/a
31	chr21:15353879-15353929	GM06990	blood:	n/a
32	chr21:15352213-15352263	GM12892	blood:	n/a
33	chr21:15353879-15353929	HIPEpiC	eye:	n/a
34	chr21:15383222-15383272	GM12878	blood:	n/a
35	chr21:15352085-15352135	MCF-7	breast:	n/a
36	chr21:15352085-15352135	NH-A	brain:	n/a
37	chr21:15383799-15383849	HNPCEpiC	eye:	n/a
38	chr21:15352848-15352898	PrEC	prostate:	n/a
39	chr21:15352957-15353007	AG04450	lung:	fetal
40	chr21:15352848-15352898	NHDF-neo	bronchial:	n/a
41	chr21:15383799-15383849	AG10803	skin:	n/a
42	chr21:15383750-15383800	SK-N-MC	brain:	n/a
43	chr21:15355304-15355354	BJ	skin:	n/a
44	chr21:15353879-15353929	HCM	heart:	n/a
45	chr21:15354232-15354282	HMEC	breast:	n/a
46	chr21:15352848-15352898	HIPEpiC	eye:	n/a
47	chr21:15383654-15383704	HPAEpiC	pulmonary alveolar:	n/a
48	chr21:15352085-15352135	T-47D	breast:	n/a
49	chr21:15383222-15383272	HCPEpiC	choroid plexus:	n/a
50	chr21:15355304-15355354	HMEC	breast:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-4	chr21:15339702-15339757	NONHSAT081133
2	lnc-LIPI-4	chr21:15342294-15342431	NONHSAT081133
3	lnc-LIPI-4	chr21:15344317-15344450	NONHSAT081133
4	lnc-LIPI-3	chr21:15355017-15355220	expReg_chr21_329_-
5	lnc-RBM11-9	chr21:15361262-15361404	NONHSAT081139
6	lnc-RBM11-9	chr21:15361727-15362029	NONHSAT081139
7	lnc-LIPI-4	chr21:15342294-15342324	NONHSAT081131

No data

Variant related genes	Relation type
PPP6R2P1	TF binding region
RNU6-954P	TF binding region
ENSG00000224905	TF binding region
NF1P3	TF binding region
ENSG00000266838	TF binding region
ANKRD20A11P	TF binding region
PPP6R2P1	CpG island
RNU6-954P	CpG island
ENSG00000224905	CpG island
NF1P3	CpG island
ENSG00000266838	CpG island
ANKRD20A11P	CpG island

Extended variants
information (count: 1992 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1992 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534310467	chr21:15338161-15338162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553871528	chr21:15338178-15338179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71330020	chr21:15338186-15338187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146502828	chr21:15338187-15338188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35143583	chr21:15338188-15338189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148786684	chr21:15338224-15338225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542125838	chr21:15338246-15338247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35861728	chr21:15338289-15338290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35808195	chr21:15338318-15338319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142454784	chr21:15338325-15338326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534067164	chr21:15338345-15338346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113267835	chr21:15338347-15338348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575628618	chr21:15338362-15338363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112405448	chr21:15338366-15338367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544389461	chr21:15338386-15338387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112959945	chr21:15338394-15338395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532846040	chr21:15338440-15338441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35953564	chr21:15338441-15338442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546999928	chr21:15338461-15338462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546714541	chr21:15338462-15338463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34919344	chr21:15338464-15338465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140542490	chr21:15338502-15338503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143285201	chr21:15338512-15338513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549248977	chr21:15338528-15338529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35773773	chr21:15338531-15338532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80212968	chr21:15338544-15338545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553883737	chr21:15338546-15338547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77029298	chr21:15338548-15338549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79243799	chr21:15338549-15338550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56064502	chr21:15338560-15338561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146686095	chr21:15338619-15338620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34742252	chr21:15338628-15338629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191771849	chr21:15338632-15338633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372702783	chr21:15338638-15338639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551518891	chr21:15338677-15338678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569832512	chr21:15338682-15338683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571851948	chr21:15338726-15338727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529428562	chr21:15338732-15338733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372989642	chr21:15338757-15338758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184280107	chr21:15338766-15338767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573938343	chr21:15338778-15338779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3115477	chr21:15338780-15338781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569479970	chr21:15338837-15338838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375821598	chr21:15338870-15338871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181509557	chr21:15338879-15338880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544524359	chr21:15338890-15338891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9983473	chr21:15338899-15338900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577814107	chr21:15338905-15338906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137894881	chr21:15338906-15338907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149124854	chr21:15338936-15338937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Breast cancer	20409316	CNVD
Autism	18414403	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
Breast cancer	22522925	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

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15310400-15347400	Weak transcription	Dnd41	blood
2	chr21:15341400-15341800	Active TSS	A549	lung
3	chr21:15341400-15342000	Enhancers	HMEC	breast
4	chr21:15341400-15342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:15341400-15342800	Enhancers	Hela-S3	cervix
6	chr21:15341400-15342800	Enhancers	K562	blood
7	chr21:15342000-15342600	Weak transcription	HMEC	breast
8	chr21:15342600-15342800	Enhancers	HMEC	breast
9	chr21:15342800-15345800	Weak transcription	K562	blood
10	chr21:15345800-15346400	Flanking Active TSS	K562	blood
11	chr21:15346000-15346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:15346400-15346800	Enhancers	K562	blood
13	chr21:15346800-15347000	Flanking Active TSS	K562	blood
14	chr21:15347000-15347200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:15347000-15347600	Active TSS	K562	blood
16	chr21:15347400-15347600	Enhancers	Esophagus	oesophagus
17	chr21:15347400-15347800	Enhancers	Dnd41	blood
18	chr21:15347600-15347800	Flanking Active TSS	K562	blood
19	chr21:15347600-15351800	Weak transcription	Esophagus	oesophagus
20	chr21:15347800-15348600	Weak transcription	K562	blood
21	chr21:15347800-15350000	Weak transcription	Dnd41	blood
22	chr21:15348600-15349000	Enhancers	K562	blood
23	chr21:15349000-15349800	Weak transcription	K562	blood
24	chr21:15349800-15353400	Active TSS	K562	blood
25	chr21:15350000-15350200	Flanking Active TSS	Dnd41	blood
26	chr21:15350200-15352800	Active TSS	Dnd41	blood
27	chr21:15350600-15350800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr21:15351200-15353000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr21:15351600-15351800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:15351600-15352000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr21:15351800-15352000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr21:15351800-15352200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:15351800-15352400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr21:15351800-15352600	Active TSS	Colon Smooth Muscle	Colon
35	chr21:15351800-15352600	ZNF genes & repeats	Esophagus	oesophagus
36	chr21:15351800-15352600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr21:15351800-15353000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr21:15351800-15353000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:15351800-15353000	Active TSS	Adipose Nuclei	Adipose
40	chr21:15351800-15353000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:15351800-15353200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr21:15351800-15353200	Active TSS	Primary B cells from peripheral blood	blood
43	chr21:15351800-15353200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr21:15351800-15353200	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr21:15351800-15353200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:15351800-15353200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:15351800-15353200	Active TSS	Duodenum Mucosa	Duodenum
48	chr21:15351800-15353200	Active TSS	Thymus	Thymus
49	chr21:15351800-15353200	Active TSS	A549	lung
50	chr21:15351800-15353200	Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links