Variant report

Variant	rs565891885
Chromosome Location	chr14:81902566-81902567
allele	-/CCCGCC
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	CTCF	chr14:81902384-81902577	K562	blood:	n/a	chr14:81902492-81902505 chr14:81902525-81902541 chr14:81902527-81902540
2	SIN3AK20	chr14:81901929-81902787	H1-hESC	embryonic stem cell:	n/a	n/a
3	TFAP2C	chr14:81901757-81903288	Hela-S3	cervix:	n/a	chr14:81902190-81902205
4	MAX	chr14:81901822-81903272	K562	blood:	n/a	chr14:81902148-81902157
5	POLR2A	chr14:81902351-81903294	K562	blood:	n/a	n/a
6	REST	chr14:81901854-81902595	HepG2	liver:	n/a	chr14:81902171-81902191 chr14:81902171-81902180 chr14:81902174-81902187 chr14:81901974-81901982
7	MAX	chr14:81901851-81903275	Hela-S3	cervix:	n/a	chr14:81902148-81902157
8	EGR1	chr14:81902329-81902834	H1-hESC	embryonic stem cell:	n/a	chr14:81902569-81902583 chr14:81902518-81902531 chr14:81902451-81902464 chr14:81902646-81902659
9	ZNF143	chr14:81902005-81903091	Hela-S3	cervix:	n/a	chr14:81902980-81902998
10	TAF1	chr14:81902330-81903142	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:81901463-81903215	K562	blood:	n/a	n/a
12	CTCF	chr14:81902383-81902618	K562	blood:	n/a	chr14:81902492-81902505 chr14:81902525-81902541 chr14:81902527-81902540
13	RCOR1	chr14:81901724-81903267	K562	blood:	n/a	n/a
14	TCF12	chr14:81901919-81903323	ECC-1	luminal epithelium:	n/a	chr14:81902395-81902402
15	MYC	chr14:81901903-81902576	MCF-7	breast:	n/a	chr14:81902148-81902157
16	E2F6	chr14:81902529-81903370	A549	lung:	n/a	chr14:81902977-81902984 chr14:81902955-81902967 chr14:81903276-81903283 chr14:81902977-81902984 chr14:81903134-81903143 chr14:81902622-81902631 chr14:81903275-81903284 chr14:81902834-81902844 chr14:81902977-81902984 chr14:81902857-81902866
17	SMARCB1	chr14:81901808-81903369	Hela-S3	cervix:	n/a	n/a
18	MAX	chr14:81901754-81903369	MCF-7	breast:	n/a	chr14:81902148-81902157
19	CHD2	chr14:81901883-81903099	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr14:81901467-81903235	K562	blood:	n/a	chr14:81902148-81902157
21	UBTF	chr14:81901669-81903057	K562	blood:	n/a	n/a
22	HA-E2F1	chr14:81901875-81903208	Hela-S3	cervix:	n/a	chr14:81902977-81902984 chr14:81902955-81902967 chr14:81902977-81902984 chr14:81903134-81903143 chr14:81902622-81902631 chr14:81902834-81902844 chr14:81902977-81902984 chr14:81902857-81902866 chr14:81902490-81902499 chr14:81902524-81902534
23	POLR2A	chr14:81902563-81903149	ECC-1	luminal epithelium:	n/a	n/a
24	HMGN3	chr14:81901734-81903200	K562	blood:	n/a	n/a
25	YY1	chr14:81902481-81903194	HepG2	liver:	n/a	chr14:81902862-81902871
26	EP300	chr14:81901749-81903052	ECC-1	luminal epithelium:	n/a	chr14:81902161-81902177 chr14:81902819-81902835
27	CCNT2	chr14:81901668-81903078	K562	blood:	n/a	n/a
28	ZBTB7A	chr14:81901933-81902967	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:81901826-81903314	K562	blood:	n/a	n/a
30	MAX	chr14:81901856-81903322	H1-hESC	embryonic stem cell:	n/a	chr14:81902148-81902157
31	POLR2A	chr14:81901708-81903305	K562	blood:	n/a	n/a
32	REST	chr14:81901723-81902979	ECC-1	luminal epithelium:	n/a	chr14:81902667-81902680 chr14:81902171-81902191 chr14:81902171-81902180 chr14:81902641-81902654 chr14:81902174-81902187 chr14:81901974-81901982
33	BACH1	chr14:81901876-81903141	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr14:81901786-81903328	K562	blood:	n/a	chr14:81902148-81902157
35	POLR2A	chr14:81901744-81903185	HepG2	liver:	n/a	n/a
36	MAX	chr14:81901832-81903502	ECC-1	luminal epithelium:	n/a	chr14:81902148-81902157
37	REST	chr14:81901718-81902676	ECC-1	luminal epithelium:	n/a	chr14:81902171-81902191 chr14:81902171-81902180 chr14:81902641-81902654 chr14:81902174-81902187 chr14:81901974-81901982
38	RCOR1	chr14:81901693-81903119	Hela-S3	cervix:	n/a	n/a
39	EGR1	chr14:81902309-81902906	K562	blood:	n/a	chr14:81902569-81902583 chr14:81902518-81902531 chr14:81902451-81902464 chr14:81902646-81902659
40	MAX	chr14:81901846-81903214	HepG2	liver:	n/a	chr14:81902148-81902157
41	POLR2A	chr14:81901884-81903160	MCF-7	breast:	n/a	n/a
42	HDAC2	chr14:81901677-81903522	MCF-7	breast:	n/a	chr14:81902164-81902183
43	POLR2A	chr14:81902536-81903422	H1-hESC	embryonic stem cell:	n/a	n/a
44	MXI1	chr14:81901845-81903278	HepG2	liver:	n/a	n/a
45	REST	chr14:81901730-81902590	MCF-7	breast:	n/a	chr14:81902171-81902191 chr14:81902171-81902180 chr14:81902174-81902187 chr14:81901974-81901982
46	EGR1	chr14:81902485-81902601	GM12878	blood:	n/a	chr14:81902569-81902583 chr14:81902518-81902531
47	ZBTB7A	chr14:81901942-81902857	ECC-1	luminal epithelium:	n/a	n/a
48	EGR1	chr14:81902360-81902881	ECC-1	luminal epithelium:	n/a	chr14:81902569-81902583 chr14:81902518-81902531 chr14:81902451-81902464 chr14:81902646-81902659
49	MAX	chr14:81901930-81903336	H1-hESC	embryonic stem cell:	n/a	chr14:81902148-81902157
50	POLR2A	chr14:81901881-81903029	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81684581..81688465-chr14:81899255..81904181,10	K562	blood:
2	chr14:81789758..81792094-chr14:81900694..81903096,3	MCF-7	breast:
3	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
4	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
5	chr14:81684709..81688864-chr14:81899235..81906709,16	MCF-7	breast:

Variant related genes	Relation type
STON2	TF binding region
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	esv3442417	chr14:81901624-81904172	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81900800-81903400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:81901000-81903000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:81901000-81903600	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr14:81901200-81902600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr14:81901200-81903200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:81901200-81903600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:81901400-81903000	Active TSS	Brain Cingulate Gyrus	brain
8	chr14:81901400-81903200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:81901400-81903200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:81901400-81903400	Active TSS	K562	blood
11	chr14:81901400-81903600	Active TSS	Brain Substantia Nigra	brain
12	chr14:81901400-81903600	Active TSS	Right Atrium	heart
13	chr14:81901600-81902600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
14	chr14:81901600-81902800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:81901600-81903000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:81901600-81903000	Active TSS	Brain Angular Gyrus	brain
17	chr14:81901600-81903000	Bivalent/Poised TSS	NHLF	lung
18	chr14:81901600-81903200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:81901600-81903200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:81901600-81903400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:81901600-81903400	Active TSS	Esophagus	oesophagus
22	chr14:81901600-81903400	Active TSS	Psoas Muscle	Psoas
23	chr14:81901600-81903600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:81901800-81902600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:81901800-81902600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:81901800-81902600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:81901800-81902600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr14:81901800-81902600	Flanking Bivalent TSS/Enh	HSMM	muscle
29	chr14:81901800-81902600	Bivalent Enhancer	HUVEC	blood vessel
30	chr14:81901800-81902800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:81901800-81903000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:81901800-81903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:81901800-81903000	Active TSS	Gastric	stomach
34	chr14:81901800-81903000	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr14:81901800-81903000	Active TSS	NHEK	skin
36	chr14:81901800-81903200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:81901800-81903200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:81901800-81903200	Active TSS	HepG2	liver
39	chr14:81901800-81903400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:81901800-81903400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:81901800-81903400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:81901800-81903600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:81901800-81903800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr14:81902000-81902600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:81902000-81902600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:81902000-81902800	Active TSS	Primary T cells from cord blood	blood
47	chr14:81902000-81903000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:81902000-81903000	Active TSS	Hela-S3	cervix
49	chr14:81902000-81903200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr14:81902000-81903200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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