Variant report

Variant	rs72713309
Chromosome Location	chr14:105935395-105935396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:105934519-105936718	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr14:105934582-105936644	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr14:105933160-105936483	MCF-7	breast:	n/a	n/a
4	NFIC	chr14:105934611-105937722	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr14:105934643-105937725	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr14:105934929-105936452	K562	blood:	n/a	n/a
7	POLR2A	chr14:105935282-105935561	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:105934763-105935675	ECC-1	luminal epithelium:	n/a	n/a
9	YY1	chr14:105934894-105936567	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr14:105934777-105936536	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr14:105934463-105936615	ECC-1	luminal epithelium:	n/a	n/a
12	EGR1	chr14:105934858-105935521	ECC-1	luminal epithelium:	n/a	n/a
13	ZBTB7A	chr14:105934403-105936886	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr14:105934559-105936808	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr14:105934873-105935492	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr14:105934870-105936385	Hela-S3	cervix:	n/a	n/a
17	EP300	chr14:105934658-105937723	ECC-1	luminal epithelium:	n/a	chr14:105934765-105934781 chr14:105937371-105937387
18	NR2F2	chr14:105933316-105936483	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:105935378-105935672	K562	blood:	n/a	n/a
20	TEAD4	chr14:105934791-105935608	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr14:105934846-105935450	ECC-1	luminal epithelium:	n/a	n/a
22	NFIC	chr14:105934625-105936594	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr14:105935110-105935508	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr14:105934871-105935620	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr14:105934781-105935611	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105935351-105935401	AoSMC	blood vessel:	n/a
2	chr14:105935351-105935401	ECC-1	luminal epithelium:	n/a
3	chr14:105935351-105935401	U87	brain:	n/a
4	chr14:105935351-105935401	MCF10A-Er-Src	breast:	n/a
5	chr14:105935351-105935401	H1-hESC	embryonic stem cell:	embryo
6	chr14:105935351-105935401	GM06990	blood:	n/a
7	chr14:105935351-105935401	HCM	heart:	n/a
8	chr14:105935351-105935401	GM12891	blood:	n/a
9	chr14:105935351-105935401	HCPEpiC	choroid plexus:	n/a
10	chr14:105935351-105935401	HAEpiC	amniotic membrane:	n/a
11	chr14:105935351-105935401	Hepatocyte	liver:	n/a
12	chr14:105935351-105935401	SK-N-SH_RA	brain:	n/a
13	chr14:105935351-105935401	HCF	heart:	n/a
14	chr14:105935351-105935401	AG09309	skin:	n/a
15	chr14:105935351-105935401	HCT-116	colon:	n/a
16	chr14:105935351-105935401	T-47D	breast:	n/a
17	chr14:105935351-105935401	GM19239	blood:	n/a
18	chr14:105935351-105935401	HRE	kidney:	n/a
19	chr14:105935351-105935401	BJ	skin:	n/a
20	chr14:105935351-105935401	NB4	blood:	n/a
21	chr14:105935351-105935401	GM12878	blood:	n/a
22	chr14:105935351-105935401	A549	lung:	n/a
23	chr14:105935351-105935401	HRCEpiC	kidney:	n/a
24	chr14:105935351-105935401	HL-60	blood:	n/a
25	chr14:105935351-105935401	Jurkat	blood:	n/a
26	chr14:105935351-105935401	AG04450	lung:	fetal
27	chr14:105935351-105935401	AG10803	skin:	n/a
28	chr14:105935351-105935401	HMEC	breast:	n/a
29	chr14:105935351-105935401	LNCaP	prostate:	n/a
30	chr14:105935351-105935401	AG09319	gingival:	n/a
31	chr14:105935351-105935401	HEEpiC	esophagus:	n/a
32	chr14:105935351-105935401	BE2_C	brain:	n/a
33	chr14:105935351-105935401	K562	blood:	n/a
34	chr14:105935351-105935401	NT2-D1	testis:	n/a
35	chr14:105935351-105935401	PANC-1	pancreas:	n/a
36	chr14:105935351-105935401	PFSK-1	brain:	n/a
37	chr14:105935351-105935401	SK-N-SH	brain:	n/a
38	chr14:105935351-105935401	Hela-S3	cervix:	n/a
39	chr14:105935351-105935401	NHBE	bronchial:	n/a
40	chr14:105935351-105935401	SAEC	small airway:	n/a
41	chr14:105935351-105935401	RPTEC	kidney:	n/a
42	chr14:105935351-105935401	MCF-7	breast:	n/a
43	chr14:105935351-105935401	HEK293	kidney:	embryo
44	chr14:105935351-105935401	Caco-2	colon:	n/a
45	chr14:105935351-105935401	PrEC	prostate:	n/a
46	chr14:105935351-105935401	SK-N-MC	brain:	n/a
47	chr14:105935351-105935401	SKMC	muscle:	n/a
48	chr14:105935351-105935401	HUVEC	blood vessel:	n/a
49	chr14:105935351-105935401	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:105935351-105935401	HIPEpiC	eye:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105932887..105936381-chr14:105936498..105941811,9	K562	blood:
2	chr14:105863668..105866126-chr14:105933833..105938378,4	MCF-7	breast:
3	chr14:105932887..105936301-chr14:105938712..105941811,4	K562	blood:
4	chr14:105932848..105935493-chr14:105944739..105946369,2	K562	blood:
5	chr14:105902565..105906697-chr14:105932169..105936497,4	MCF-7	breast:
6	chr14:105930163..105933758-chr14:105934789..105938563,5	K562	blood:

No data

Variant related genes	Relation type
CRIP2	TF binding region
MTA1	TF binding region
MTA1	CpG island
CRIP2	CpG island
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4983601	1.00[AFR][1000 genomes]
rs72711576	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
5	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
9	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
12	chr14:105926200-105935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:105926200-105937000	Strong transcription	Brain Germinal Matrix	brain
14	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:105926400-105936600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:105926400-105936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:105926400-105937000	Strong transcription	Fetal Intestine Small	intestine
18	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
20	chr14:105926400-105937800	Strong transcription	Thymus	Thymus
21	chr14:105926600-105935400	Strong transcription	Fetal Thymus	thymus
22	chr14:105926600-105936000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:105926600-105936400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:105926600-105936400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:105926600-105936400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:105926600-105936600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr14:105926600-105936600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:105926600-105937200	Strong transcription	Fetal Intestine Large	intestine
29	chr14:105926600-105937200	Strong transcription	Ovary	ovary
30	chr14:105926600-105937400	Strong transcription	Dnd41	blood
31	chr14:105926800-105935400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:105926800-105936400	Strong transcription	Primary T cells from cord blood	blood
33	chr14:105927200-105939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:105929000-105938600	Enhancers	Fetal Heart	heart
35	chr14:105929200-105935600	Strong transcription	Colonic Mucosa	Colon
36	chr14:105929200-105940000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:105929400-105935400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:105929400-105936800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:105929600-105936400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:105930400-105938800	Genic enhancers	Fetal Muscle Leg	muscle
41	chr14:105930800-105937600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr14:105931000-105938600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:105931000-105939800	Weak transcription	Primary B cells from cord blood	blood
44	chr14:105931200-105936400	Strong transcription	HUVEC	blood vessel
45	chr14:105931200-105939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:105931400-105935800	Genic enhancers	Placenta Amnion	Placenta Amnion
47	chr14:105931400-105937200	Weak transcription	Brain Angular Gyrus	brain
48	chr14:105931600-105935400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:105931600-105939200	Weak transcription	Brain Substantia Nigra	brain
50	chr14:105932000-105935600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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