Variant report

Variant	rs3853423
Chromosome Location	chr14:81902771-81902772
allele	G/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	MYC	chr14:81902666-81902845	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:81902629-81903212	K562	blood:	n/a	n/a
3	SIN3AK20	chr14:81901929-81902787	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:81902668-81902846	H1-hESC	embryonic stem cell:	n/a	n/a
5	TFAP2C	chr14:81901757-81903288	Hela-S3	cervix:	n/a	chr14:81902190-81902205
6	SP1	chr14:81902627-81903161	H1-hESC	embryonic stem cell:	n/a	chr14:81902645-81902655 chr14:81902909-81902920 chr14:81902846-81902867
7	POLR2A	chr14:81902766-81903135	K562	blood:	n/a	n/a
8	E2F6	chr14:81902698-81903228	A549	lung:	n/a	chr14:81902977-81902984 chr14:81902955-81902967 chr14:81902977-81902984 chr14:81903134-81903143 chr14:81902834-81902844 chr14:81902977-81902984 chr14:81902857-81902866
9	TAF1	chr14:81902647-81903121	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr14:81901822-81903272	K562	blood:	n/a	chr14:81902148-81902157
11	GTF2F1	chr14:81902763-81903159	K562	blood:	n/a	n/a
12	HDAC2	chr14:81902580-81903162	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:81902351-81903294	K562	blood:	n/a	n/a
14	MXI1	chr14:81902599-81903771	SK-N-SH	brain:	n/a	chr14:81903762-81903771
15	POLR2A	chr14:81902630-81903216	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZMIZ1	chr14:81902668-81902891	K562	blood:	n/a	n/a
17	TBP	chr14:81902629-81903166	K562	blood:	n/a	n/a
18	MAX	chr14:81901851-81903275	Hela-S3	cervix:	n/a	chr14:81902148-81902157
19	POLR2A	chr14:81902745-81902877	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:81902617-81902990	ECC-1	luminal epithelium:	n/a	n/a
21	EGR1	chr14:81902329-81902834	H1-hESC	embryonic stem cell:	n/a	chr14:81902569-81902583 chr14:81902518-81902531 chr14:81902451-81902464 chr14:81902646-81902659
22	ZNF143	chr14:81902005-81903091	Hela-S3	cervix:	n/a	chr14:81902980-81902998
23	TAF1	chr14:81902330-81903142	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:81901463-81903215	K562	blood:	n/a	n/a
25	RCOR1	chr14:81901724-81903267	K562	blood:	n/a	n/a
26	ELF1	chr14:81902599-81903084	K562	blood:	n/a	chr14:81902686-81902698 chr14:81902832-81902844
27	POLR2A	chr14:81902686-81902938	MCF10A-Er-Src	breast:	n/a	n/a
28	HEY1	chr14:81902589-81903129	HepG2	liver:	n/a	chr14:81902838-81902853 chr14:81902784-81902799
29	TCF12	chr14:81901919-81903323	ECC-1	luminal epithelium:	n/a	chr14:81902395-81902402
30	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
31	SMARCB1	chr14:81901808-81903369	Hela-S3	cervix:	n/a	n/a
32	MAX	chr14:81901754-81903369	MCF-7	breast:	n/a	chr14:81902148-81902157
33	MAX	chr14:81902597-81903350	A549	lung:	n/a	n/a
34	CHD2	chr14:81901883-81903099	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr14:81902664-81903181	K562	blood:	n/a	n/a
36	MYC	chr14:81902731-81902807	MCF-7	breast:	n/a	n/a
37	REST	chr14:81902589-81903103	HepG2	liver:	n/a	chr14:81902667-81902680 chr14:81902641-81902654
38	MAZ	chr14:81901467-81903235	K562	blood:	n/a	chr14:81902148-81902157
39	UBTF	chr14:81901669-81903057	K562	blood:	n/a	n/a
40	POLR2A	chr14:81902575-81903256	H1-neurons	neurons:	n/a	n/a
41	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
42	TBP	chr14:81902621-81903162	H1-hESC	embryonic stem cell:	n/a	n/a
43	HEY1	chr14:81902598-81903198	K562	blood:	n/a	chr14:81902838-81902853 chr14:81902784-81902799
44	HCFC1	chr14:81902719-81903216	K562	blood:	n/a	n/a
45	YY1	chr14:81902646-81903137	K562	blood:	n/a	chr14:81902862-81902871
46	POLR2A	chr14:81902563-81903149	ECC-1	luminal epithelium:	n/a	n/a
47	SIN3AK20	chr14:81902614-81902987	K562	blood:	n/a	n/a
48	HMGN3	chr14:81901734-81903200	K562	blood:	n/a	n/a
49	MXI1	chr14:81902718-81903234	Hela-S3	cervix:	n/a	n/a
50	MAX	chr14:81902648-81903297	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81902736-81902786	AG04449	skin:	fetal
2	chr14:81902736-81902786	HEK293	kidney:	embryo
3	chr14:81902736-81902786	MCF10A-Er-Src	breast:	n/a
4	chr14:81902736-81902786	RPTEC	kidney:	n/a
5	chr14:81902736-81902786	HL-60	blood:	n/a
6	chr14:81902736-81902786	AG09319	gingival:	n/a
7	chr14:81902736-81902786	NH-A	brain:	n/a
8	chr14:81902736-81902786	MCF-7	breast:	n/a
9	chr14:81902736-81902786	ovcar-3	ovarian:	n/a
10	chr14:81902736-81902786	HepG2	liver:	n/a
11	chr14:81902736-81902786	K562	blood:	n/a
12	chr14:81902736-81902786	Hepatocyte	liver:	n/a
13	chr14:81902736-81902786	AG10803	skin:	n/a
14	chr14:81902736-81902786	PrEC	prostate:	n/a
15	chr14:81902736-81902786	IMR90	lung:	fetal
16	chr14:81902736-81902786	HRE	kidney:	n/a
17	chr14:81902736-81902786	HIPEpiC	eye:	n/a
18	chr14:81902736-81902786	H1-hESC	embryonic stem cell:	embryo
19	chr14:81902736-81902786	AoSMC	blood vessel:	n/a
20	chr14:81902736-81902786	SK-N-MC	brain:	n/a
21	chr14:81902736-81902786	HUVEC	blood vessel:	n/a
22	chr14:81902736-81902786	SKMC	muscle:	n/a
23	chr14:81902736-81902786	HRCEpiC	kidney:	n/a
24	chr14:81902736-81902786	HNPCEpiC	eye:	n/a
25	chr14:81902736-81902786	NB4	blood:	n/a
26	chr14:81902736-81902786	SAEC	small airway:	n/a
27	chr14:81902736-81902786	LNCaP	prostate:	n/a
28	chr14:81902736-81902786	T-47D	breast:	n/a
29	chr14:81902736-81902786	GM06990	blood:	n/a
30	chr14:81902736-81902786	GM19239	blood:	n/a
31	chr14:81902736-81902786	GM12892	blood:	n/a
32	chr14:81902736-81902786	AG09309	skin:	n/a
33	chr14:81902736-81902786	Jurkat	blood:	n/a
34	chr14:81902736-81902786	HMEC	breast:	n/a
35	chr14:81902736-81902786	NHDF-neo	bronchial:	n/a
36	chr14:81902736-81902786	HCF	heart:	n/a
37	chr14:81902736-81902786	SK-N-SH_RA	brain:	n/a
38	chr14:81902736-81902786	BE2_C	brain:	n/a
39	chr14:81902736-81902786	U87	brain:	n/a
40	chr14:81902736-81902786	A549	lung:	n/a
41	chr14:81902736-81902786	SK-N-SH	brain:	n/a
42	chr14:81902736-81902786	NT2-D1	testis:	n/a
43	chr14:81902736-81902786	AG04450	lung:	fetal
44	chr14:81902736-81902786	HRPEpiC	eye:	n/a
45	chr14:81902736-81902786	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:81902736-81902786	PFSK-1	brain:	n/a
47	chr14:81902736-81902786	CMK	blood:	n/a
48	chr14:81902736-81902786	GM12878	blood:	n/a
49	chr14:81902736-81902786	HEEpiC	esophagus:	n/a
50	chr14:81902736-81902786	PANC-1	pancreas:	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
STON2	CpG island
ENSG00000140022	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12889439	0.82[ASN][1000 genomes]
rs3742550	0.81[ASN][1000 genomes]

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:117 , 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	chr14:81901200-81903200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:81901200-81903600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:81901400-81903000	Active TSS	Brain Cingulate Gyrus	brain
7	chr14:81901400-81903200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:81901400-81903200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:81901400-81903400	Active TSS	K562	blood
10	chr14:81901400-81903600	Active TSS	Brain Substantia Nigra	brain
11	chr14:81901400-81903600	Active TSS	Right Atrium	heart
12	chr14:81901600-81902800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:81901600-81903000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:81901600-81903000	Active TSS	Brain Angular Gyrus	brain
15	chr14:81901600-81903000	Bivalent/Poised TSS	NHLF	lung
16	chr14:81901600-81903200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:81901600-81903200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:81901600-81903400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:81901600-81903400	Active TSS	Esophagus	oesophagus
20	chr14:81901600-81903400	Active TSS	Psoas Muscle	Psoas
21	chr14:81901600-81903600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:81901800-81902800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:81901800-81903000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:81901800-81903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:81901800-81903000	Active TSS	Gastric	stomach
26	chr14:81901800-81903000	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr14:81901800-81903000	Active TSS	NHEK	skin
28	chr14:81901800-81903200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:81901800-81903200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:81901800-81903200	Active TSS	HepG2	liver
31	chr14:81901800-81903400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:81901800-81903400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:81901800-81903400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:81901800-81903600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81901800-81903800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr14:81902000-81902800	Active TSS	Primary T cells from cord blood	blood
37	chr14:81902000-81903000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr14:81902000-81903000	Active TSS	Hela-S3	cervix
39	chr14:81902000-81903200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:81902000-81903200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:81902000-81903200	Active TSS	Aorta	Aorta
42	chr14:81902000-81903200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:81902000-81903200	Bivalent/Poised TSS	Small Intestine	intestine
44	chr14:81902000-81903200	Active TSS	HSMMtube	muscle
45	chr14:81902000-81903400	Active TSS	Brain Anterior Caudate	brain
46	chr14:81902000-81903600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:81902000-81903600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:81902000-81903600	Bivalent/Poised TSS	Fetal Brain Female	brain
49	chr14:81902000-81903600	Bivalent/Poised TSS	A549	lung
50	chr14:81902200-81902800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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