Variant report

Variant	rs3915221
Chromosome Location	chr14:81866680-81866681
allele	A/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	chr14:81866430-81868176	MCF10A-Er-Src	breast:	n/a	n/a
2	TEAD4	chr14:81866393-81867056	K562	blood:	n/a	n/a
3	GATA2	chr14:81866468-81866959	K562	blood:	n/a	chr14:81866742-81866749
4	EP300	chr14:81866524-81868244	Hela-S3	cervix:	n/a	chr14:81866823-81866837 chr14:81866824-81866838 chr14:81866826-81866840 chr14:81866825-81866839 chr14:81866827-81866841
5	ATF1	chr14:81866502-81866954	K562	blood:	n/a	n/a
6	FOS	chr14:81866424-81868252	MCF10A-Er-Src	breast:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
7	POLR2A	chr14:81866363-81867661	U87	brain:	n/a	n/a
8	STAT3	chr14:81866447-81868185	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960 chr14:81866448-81866468
9	MAFF	chr14:81866599-81867037	K562	blood:	n/a	n/a
10	CHD2	chr14:81866618-81867683	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr14:81866385-81868116	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
12	MAZ	chr14:81866563-81867505	K562	blood:	n/a	n/a
13	FOS	chr14:81866492-81868200	MCF10A-Er-Src	breast:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
14	STAT5A	chr14:81866471-81866953	K562	blood:	n/a	n/a
15	JUN	chr14:81866401-81867804	K562	blood:	n/a	chr14:81866861-81866873 chr14:81867063-81867072
16	TAL1	chr14:81866536-81867207	K562	blood:	n/a	n/a
17	HDAC2	chr14:81866527-81866962	K562	blood:	n/a	chr14:81866824-81866838 chr14:81866825-81866839 chr14:81866822-81866836 chr14:81866823-81866837 chr14:81866826-81866840 chr14:81866827-81866841
18	MYC	chr14:81866523-81867001	K562	blood:	n/a	n/a
19	STAT3	chr14:81866592-81868231	Hela-S3	cervix:	n/a	chr14:81866948-81866960
20	TEAD4	chr14:81866536-81868116	ECC-1	luminal epithelium:	n/a	n/a
21	ARID3A	chr14:81866603-81866903	K562	blood:	n/a	n/a
22	MAFK	chr14:81866553-81867054	K562	blood:	n/a	chr14:81866869-81866885 chr14:81866859-81866876
23	ZNF263	chr14:81866522-81867542	HEK293-T-REx	kidney:	n/a	n/a
24	PML	chr14:81866539-81867007	K562	blood:	n/a	n/a
25	TBL1XR1	chr14:81866569-81866958	K562	blood:	n/a	n/a
26	CUX1	chr14:81866653-81867067	K562	blood:	n/a	n/a
27	CEBPB	chr14:81866579-81867624	K562	blood:	n/a	n/a
28	NR2F2	chr14:81866553-81866914	K562	blood:	n/a	n/a
29	E2F4	chr14:81866680-81866880	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr14:81866042-81868218	ECC-1	luminal epithelium:	n/a	chr14:81866727-81866744 chr14:81866728-81866744 chr14:81866547-81866563 chr14:81866546-81866563
31	BHLHE40	chr14:81866561-81867002	K562	blood:	n/a	n/a
32	MAX	chr14:81866444-81866993	K562	blood:	n/a	n/a
33	POLR2A	chr14:81866433-81867663	U87	brain:	n/a	n/a
34	MAX	chr14:81866516-81868376	Hela-S3	cervix:	n/a	n/a
35	JUND	chr14:81866613-81868237	Hela-S3	cervix:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
36	POLR2A	chr14:81866573-81866858	MCF10A-Er-Src	breast:	n/a	n/a
37	ZNF384	chr14:81866293-81867570	K562	blood:	n/a	n/a
38	RAD21	chr14:81866564-81868169	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr14:81866674-81868180	MCF10A-Er-Src	breast:	n/a	chr14:81866948-81866960
40	FOS	chr14:81866606-81868162	Hela-S3	cervix:	n/a	chr14:81868006-81868016 chr14:81868006-81868016 chr14:81868006-81868016 chr14:81866861-81866873 chr14:81867063-81867072 chr14:81868007-81868015 chr14:81868006-81868016
41	POLR2A	chr14:81866531-81867581	MCF10A-Er-Src	breast:	n/a	n/a
42	YY1	chr14:81866586-81866784	K562	blood:	n/a	n/a
43	ZKSCAN1	chr14:81866519-81868056	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr14:81866442-81868268	HCT-116	colon:	n/a	n/a
45	ATF3	chr14:81866522-81866999	K562	blood:	n/a	chr14:81866678-81866688
46	MXI1	chr14:81866562-81866906	K562	blood:	n/a	n/a
47	MYC	chr14:81866596-81868163	Hela-S3	cervix:	n/a	n/a
48	MAX	chr14:81866672-81866943	NB4	blood:	n/a	n/a
49	RCOR1	chr14:81866483-81868812	K562	blood:	n/a	n/a
50	TCF7L2	chr14:81866439-81867635	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81866040..81868691-chr14:81870203..81872674,2	K562	blood:
2	chr14:81864941..81867433-chr14:81921571..81923631,2	K562	blood:
3	chr14:81865587..81872038-chr14:81887440..81896764,13	K562	blood:
4	chr14:81865287..81867829-chr14:81917916..81919892,2	K562	blood:
5	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
6	chr14:81865470..81868504-chr14:81891136..81896392,5	K562	blood:
7	chr14:81852266..81853780-chr14:81865825..81868508,2	K562	blood:
8	chr14:81865299..81866947-chr14:81897451..81900314,2	K562	blood:
9	chr14:81685490..81687621-chr14:81866238..81868620,4	MCF-7	breast:

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

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10143138	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145707	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146491	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147406	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10147676	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151523	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10450895	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11159498	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625151	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629261	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437349	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886101	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12887794	0.85[JPT][hapmap]
rs12888000	0.89[GIH][hapmap];0.85[JPT][hapmap]
rs12895006	0.85[JPT][hapmap]
rs1569011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17638807	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2145122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680192	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34596952	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742549	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3844532	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853417	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3891132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3908315	0.84[JPT][hapmap]
rs3915225	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3915226	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3915227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4089876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4119204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4119205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4553551	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574648	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574652	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145313	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146532	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155582	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341962	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7492313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006162	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010482	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021742	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323701	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652382	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9652384	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3915221	C14orf4	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81858200-81867000	Weak transcription	Brain Germinal Matrix	brain
4	chr14:81859400-81866800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:81860200-81867400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:81861000-81873000	Weak transcription	HepG2	liver
7	chr14:81861400-81869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
9	chr14:81861600-81873200	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:81862800-81867000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:81862800-81867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
13	chr14:81864400-81867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:81864400-81867200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:81864600-81867000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:81864600-81870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:81864800-81866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:81864800-81867400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:81864800-81869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:81865000-81866800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:81865000-81867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:81865000-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:81865000-81889400	Weak transcription	Ovary	ovary
27	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:81865200-81870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:81865400-81867200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:81865400-81873000	Weak transcription	Liver	Liver
31	chr14:81865800-81869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:81866000-81867600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:81866000-81868800	Enhancers	Primary hematopoietic stem cells	blood
34	chr14:81866200-81866800	Flanking Active TSS	HMEC	breast
35	chr14:81866200-81866800	Flanking Active TSS	NHEK	skin
36	chr14:81866200-81867000	Enhancers	HSMMtube	muscle
37	chr14:81866200-81867200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:81866200-81867200	Flanking Active TSS	HSMM	muscle
39	chr14:81866200-81867400	Enhancers	Esophagus	oesophagus
40	chr14:81866200-81867400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:81866200-81867600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:81866200-81867800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:81866200-81868000	Flanking Active TSS	Hela-S3	cervix
44	chr14:81866200-81868600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:81866200-81869000	Enhancers	Placenta	Placenta
46	chr14:81866200-81869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:81866200-81869200	Enhancers	NHLF	lung
48	chr14:81866200-81869400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:81866400-81866800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr14:81866400-81867200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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