Variant report

Variant	rs561206268
Chromosome Location	chr14:64970313-64970314
allele	C/T
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	USF1	chr14:64970305-64970750	A549	lung:	n/a	chr14:64970519-64970532
2	ZBTB33	chr14:64970274-64970738	GM12878	blood:	n/a	chr14:64970482-64970497
3	RUNX3	chr14:64970092-64972417	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:64969879-64972187	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr14:64969976-64971919	A549	lung:	n/a	n/a
6	POLR2A	chr14:64969503-64972569	K562	blood:	n/a	n/a
7	POLR2A	chr14:64968377-64972910	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:64969316-64972674	GM19099	blood:	n/a	n/a
9	TBL1XR1	chr14:64969715-64970662	K562	blood:	n/a	n/a
10	HEY1	chr14:64970201-64971921	K562	blood:	n/a	chr14:64971747-64971762 chr14:64971550-64971565 chr14:64971541-64971556 chr14:64970386-64970401 chr14:64971775-64971790
11	TAF1	chr14:64969837-64972292	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr14:64969997-64972209	HepG2	liver:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531 chr14:64971960-64971970
13	TAF7	chr14:64970025-64972364	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr14:64970069-64972297	HepG2	liver:	n/a	chr14:64971747-64971762 chr14:64971550-64971565 chr14:64971541-64971556 chr14:64970386-64970401 chr14:64971775-64971790
15	TCF12	chr14:64969694-64972843	A549	lung:	n/a	chr14:64971169-64971178
16	NRF1	chr14:64970247-64970888	GM12878	blood:	n/a	chr14:64970454-64970465 chr14:64970858-64970867
17	TAF1	chr14:64970045-64971877	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:64969977-64972610	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr14:64970058-64972742	K562	blood:	n/a	n/a
20	ELF1	chr14:64969596-64972421	MCF-7	breast:	n/a	chr14:64971558-64971570 chr14:64970689-64970702 chr14:64971556-64971565
21	POLR2A	chr14:64969881-64972349	Hela-S3	cervix:	n/a	n/a
22	POU2F2	chr14:64970123-64971772	GM12891	blood:	n/a	chr14:64970971-64970983 chr14:64970415-64970427 chr14:64970255-64970267 chr14:64970895-64970907 chr14:64971561-64971573 chr14:64970135-64970147
23	POLR2A	chr14:64969736-64972686	K562	blood:	n/a	n/a
24	ELK1	chr14:64970298-64971489	Hela-S3	cervix:	n/a	n/a
25	CTBP2	chr14:64970014-64971617	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr14:64970274-64970944	GM12878	blood:	n/a	chr14:64970348-64970364 chr14:64970498-64970507 chr14:64970293-64970309
27	SIN3AK20	chr14:64970092-64970425	A549	lung:	n/a	n/a
28	GTF2F1	chr14:64969666-64972611	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:64969348-64972728	GM12892	blood:	n/a	n/a
30	E2F6	chr14:64970258-64970961	K562	blood:	n/a	chr14:64970556-64970566 chr14:64970391-64970401 chr14:64970492-64970503 chr14:64970493-64970505 chr14:64970498-64970507 chr14:64970862-64970872
31	ELF1	chr14:64970306-64970917	HepG2	liver:	n/a	chr14:64970689-64970702
32	FOXM1	chr14:64970035-64971016	GM12878	blood:	n/a	n/a
33	REST	chr14:64970102-64970681	ECC-1	luminal epithelium:	n/a	n/a
34	TAF1	chr14:64970012-64971010	H1-neurons	neurons:	n/a	n/a
35	TAF1	chr14:64970306-64970879	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr14:64968214-64972761	Hela-S3	cervix:	n/a	n/a
37	FOXA2	chr14:64970148-64971593	A549	lung:	n/a	n/a
38	POLR2A	chr14:64969901-64972295	K562	blood:	n/a	n/a
39	TCF12	chr14:64969884-64972583	MCF-7	breast:	n/a	chr14:64971169-64971178
40	PBX3	chr14:64970014-64972553	SK-N-SH	brain:	n/a	n/a
41	TEAD4	chr14:64970122-64971253	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr14:64970030-64971727	MCF-7	breast:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531
43	MAX	chr14:64970227-64972036	HepG2	liver:	n/a	chr14:64970856-64970866 chr14:64970521-64970530 chr14:64970529-64970536 chr14:64970741-64970748 chr14:64970519-64970528 chr14:64970520-64970531 chr14:64971960-64971970
44	POLR2A	chr14:64969803-64972551	U87	brain:	n/a	n/a
45	POLR2A	chr14:64969916-64972553	GM12891	blood:	n/a	n/a
46	MXI1	chr14:64970176-64972170	HepG2	liver:	n/a	chr14:64970522-64970531
47	ZNF143	chr14:64970262-64970527	K562	blood:	n/a	chr14:64970497-64970507
48	UBTF	chr14:64969820-64972605	K562	blood:	n/a	n/a
49	ZBTB33	chr14:64970227-64970928	A549	lung:	n/a	chr14:64970859-64970869 chr14:64970482-64970497
50	EP300	chr14:64970107-64970731	T-47D	breast:	n/a	chr14:64970348-64970364 chr14:64970498-64970507 chr14:64970293-64970309 chr14:64970131-64970147

No.	Distal block	Cell Line	Cell type
1	chr14:64969427..64972228-chr3:73158451..73161611,4	MCF-7	breast:
2	chr14:64853586..64859592-chr14:64968792..64973445,7	MCF-7	breast:
3	chr14:64970239..64971228-chr17:41465633..41466586,2	Hela-S3	cervix:
4	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
5	chr14:64969193..64971407-chr14:65001217..65003397,2	K562	blood:
6	chr14:64907421..64910240-chr14:64969717..64972065,2	MCF-7	breast:
7	chr14:64906156..64910833-chr14:64968657..64972449,4	MCF-7	breast:
8	chr14:64969038..64970708-chr17:41464900..41467656,2	MCF-7	breast:
9	chr14:64970303..64972355-chr14:65568366..65570387,2	K562	blood:
10	chr1:16693796..16694296-chr14:64970263..64970981,2	HCT-116	colon:
11	chr14:64969164..64972149-chr14:65189834..65193113,3	MCF-7	breast:
12	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
13	chr14:64970140..64970771-chr15:52121668..52122358,2	Hela-S3	cervix:
14	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
15	chr14:64970276..64971264-chr17:73150276..73150857,2	HCT-116	colon:
16	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
17	chr14:64969208..64970708-chr17:41380727..41383281,2	K562	blood:
18	chr14:64969344..64972127-chr20:45983965..45986034,2	MCF-7	breast:
19	chr14:64682929..64685902-chr14:64969733..64972022,2	MCF-7	breast:
20	chr14:64969208..64970728-chr17:41380300..41382227,2	K562	blood:
21	chr14:64853592..64856673-chr14:64970174..64974352,5	K562	blood:
22	chr14:64853142..64856847-chr14:64968558..64973163,8	K562	blood:
23	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
24	chr14:64969626..64971943-chr14:103799593..103802271,2	MCF-7	breast:
25	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
26	chr14:64970114..64971112-chr5:40679140..40679771,2	Hela-S3	cervix:
27	chr14:64759697..64762213-chr14:64970276..64972019,2	MCF-7	breast:
28	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
29	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
30	chr14:64853000..64857077-chr14:64970157..64972159,5	MCF-7	breast:
31	chr11:832073..835054-chr14:64970216..64972170,2	MCF-7	breast:
32	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
33	chr14:64930987..64933079-chr14:64967526..64973126,5	K562	blood:
34	chr14:64930987..64933266-chr14:64970240..64972986,3	K562	blood:
35	chr14:64930505..64934030-chr14:64968774..64972974,8	MCF-7	breast:
36	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:
37	chr14:64969586..64971373-chr6:27781788..27783642,2	MCF-7	breast:
38	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
39	chr14:64969721..64971407-chr14:65001897..65003648,2	K562	blood:

Variant related genes	Relation type
ZBTB1	TF binding region
ENSG00000272909	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000054654	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000055070	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000255108	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000177697	Chromatin interaction
ENSG00000259160	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000125952	Chromatin interaction
ENSG00000214770	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	esv3387679	chr14:64970224-64973172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64967800-64974200	Active TSS	GM12878-XiMat	blood
2	chr14:64968000-64970400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:64968000-64973400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr14:64968200-64970400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:64968200-64970400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:64968800-64974200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:64969000-64972600	Active TSS	Esophagus	oesophagus
8	chr14:64969000-64973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:64969200-64973600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:64969200-64973800	Active TSS	Aorta	Aorta
11	chr14:64969200-64974000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:64969400-64972600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:64969400-64972600	Active TSS	Brain Angular Gyrus	brain
14	chr14:64969400-64972600	Active TSS	A549	lung
15	chr14:64969400-64972800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:64969400-64972800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:64969400-64972800	Active TSS	Lung	lung
18	chr14:64969400-64973200	Active TSS	Thymus	Thymus
19	chr14:64969400-64973400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:64969400-64973400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:64969400-64973400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:64969400-64973600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:64969600-64970400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr14:64969600-64970400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:64969600-64970600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:64969600-64970600	Active TSS	Right Atrium	heart
27	chr14:64969600-64970800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:64969600-64970800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr14:64969600-64970800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:64969600-64971000	Active TSS	Fetal Heart	heart
31	chr14:64969600-64971200	Active TSS	Brain Germinal Matrix	brain
32	chr14:64969600-64972200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:64969600-64972200	Active TSS	Brain Hippocampus Middle	brain
34	chr14:64969600-64972200	Active TSS	Fetal Thymus	thymus
35	chr14:64969600-64972400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64969600-64972400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr14:64969600-64972400	Active TSS	Liver	Liver
38	chr14:64969600-64972400	Active TSS	Brain Anterior Caudate	brain
39	chr14:64969600-64972400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:64969600-64972400	Active TSS	Hela-S3	cervix
41	chr14:64969600-64972600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:64969600-64972600	Active TSS	Fetal Intestine Large	intestine
43	chr14:64969600-64972600	Active TSS	Fetal Intestine Small	intestine
44	chr14:64969600-64972600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:64969600-64972600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr14:64969600-64972600	Active TSS	Small Intestine	intestine
47	chr14:64969600-64972600	Active TSS	NHEK	skin
48	chr14:64969600-64972800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr14:64969600-64972800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:64969600-64972800	Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links