Variant report

Variant	rs17103255
Chromosome Location	chr14:35835410-35835411
allele	A/G
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	POLR2A	chr14:35834548-35835691	K562	blood:	n/a	n/a
2	MAFK	chr14:35834661-35835661	K562	blood:	n/a	chr14:35835526-35835536
3	FOS	chr14:35834651-35835625	HUVEC	blood vessel:	n/a	chr14:35835528-35835536 chr14:35834851-35834860 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35834867-35834877 chr14:35834850-35834861
4	JUND	chr14:35834674-35835680	K562	blood:	n/a	chr14:35834850-35834861 chr14:35835528-35835536 chr14:35834851-35834860 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35834867-35834877
5	BACH1	chr14:35835358-35835628	K562	blood:	n/a	chr14:35835525-35835539
6	BHLHE40	chr14:35834468-35835502	K562	blood:	n/a	n/a
7	CTCF	chr14:35835398-35835512	Fibrobl	skin:	n/a	chr14:35835450-35835463
8	CTCF	chr14:35835385-35835419	K562	blood:	n/a	n/a
9	ZMIZ1	chr14:35834770-35835949	K562	blood:	n/a	n/a
10	CTCF	chr14:35835360-35835510	HBMEC	blood vessel:	n/a	chr14:35835450-35835463
11	JUN	chr14:35834275-35837620	K562	blood:	n/a	chr14:35835528-35835536 chr14:35834851-35834860 chr14:35836358-35836366 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35836354-35836365 chr14:35834867-35834877
12	CTCF	chr14:35835300-35835450	HA-sp	spinal cord:	n/a	n/a
13	MYC	chr14:35834700-35835607	K562	blood:	n/a	chr14:35835527-35835536
14	RCOR1	chr14:35834945-35836220	K562	blood:	n/a	n/a
15	RCOR1	chr14:35834642-35837453	K562	blood:	n/a	n/a
16	UBTF	chr14:35835322-35835687	K562	blood:	n/a	n/a
17	EP300	chr14:35834724-35835638	K562	blood:	n/a	chr14:35835092-35835106
18	POLR2A	chr14:35834313-35835788	U87	brain:	n/a	n/a
19	ZNF143	chr14:35835385-35835579	K562	blood:	n/a	n/a
20	CTCF	chr14:35835380-35835530	HepG2	liver:	n/a	chr14:35835450-35835463
21	MAX	chr14:35834197-35836101	HepG2	liver:	n/a	chr14:35835527-35835536
22	POLR2A	chr14:35835327-35835656	U87	brain:	n/a	n/a
23	POLR2A	chr14:35834440-35837595	K562	blood:	n/a	n/a
24	POLR2A	chr14:35835319-35835792	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:35835380-35835530	HAc	cerebellar:	n/a	chr14:35835450-35835463
26	YY1	chr14:35835359-35835701	K562	blood:	n/a	n/a
27	POLR2A	chr14:35834351-35835782	U87	brain:	n/a	n/a
28	SMARCC1	chr14:35834433-35835438	Hela-S3	cervix:	n/a	chr14:35834851-35834860
29	FOS	chr14:35835379-35835679	MCF10A-Er-Src	breast:	n/a	chr14:35835528-35835536 chr14:35835528-35835536 chr14:35835529-35835536
30	POLR2A	chr14:35835286-35835656	U87	brain:	n/a	n/a
31	ZC3H11A	chr14:35834868-35835649	K562	blood:	n/a	n/a
32	SMARCB1	chr14:35834395-35836392	Hela-S3	cervix:	n/a	chr14:35834851-35834860
33	MAZ	chr14:35834181-35836269	IMR90	lung:	n/a	chr14:35835527-35835536
34	FOS	chr14:35835385-35835609	MCF10A-Er-Src	breast:	n/a	chr14:35835528-35835536 chr14:35835528-35835536 chr14:35835529-35835536

No.	Distal block	Cell Line	Cell type
1	chr14:35834825..35836967-chr14:35860027..35861673,2	K562	blood:
2	chr14:21736090..21738167-chr14:35834973..35837752,2	MCF-7	breast:
3	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
4	chr14:35832015..35837880-chr14:35867331..35875279,15	K562	blood:
5	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
6	chr14:35728670..35731490-chr14:35834675..35836936,2	K562	blood:
7	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
8	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:
9	chr14:35761154..35763543-chr14:35833265..35835694,2	MCF-7	breast:
10	chr14:35825567..35827487-chr14:35834461..35837123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258860	TF binding region
ENSG00000100902	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1073597	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11156883	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11621391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091835	0.81[EUR][1000 genomes]
rs17103226	0.85[EUR][1000 genomes]
rs17103240	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17103242	0.85[EUR][1000 genomes]
rs17103246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272943	0.85[EUR][1000 genomes]
rs59618010	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17103255	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL
rs17103255	PPP2R3C	cis	Whole Blood	GTEx
rs17103255	KIAA0391	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:35827600-35836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:35830600-35836200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:35831600-35837800	Enhancers	Osteobl	bone
6	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:35831800-35838000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:35832000-35836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:35832400-35836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:35832400-35836000	Weak transcription	Liver	Liver
12	chr14:35832800-35836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:35833000-35836400	Weak transcription	Fetal Lung	lung
14	chr14:35833000-35837000	Weak transcription	Fetal Stomach	stomach
15	chr14:35833400-35836600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:35833400-35838000	Enhancers	Fetal Intestine Small	intestine
17	chr14:35833400-35839200	Enhancers	Placenta	Placenta
18	chr14:35833600-35837600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:35834000-35837600	Enhancers	Fetal Intestine Large	intestine
20	chr14:35834200-35835600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:35834200-35835800	Enhancers	HMEC	breast
22	chr14:35834200-35835800	Enhancers	HUVEC	blood vessel
23	chr14:35834200-35836200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:35834200-35836200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:35834200-35836400	Enhancers	K562	blood
26	chr14:35834200-35837200	Enhancers	Fetal Thymus	thymus
27	chr14:35834200-35837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:35834200-35837400	Enhancers	Lung	lung
29	chr14:35834200-35837800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:35834200-35837800	Enhancers	Spleen	Spleen
31	chr14:35834200-35838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:35834200-35838400	Enhancers	NHLF	lung
33	chr14:35834200-35838600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:35834200-35838600	Enhancers	HSMMtube	muscle
35	chr14:35834200-35838600	Enhancers	NH-A	brain
36	chr14:35834200-35839400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:35834200-35839400	Enhancers	Stomach Smooth Muscle	stomach
38	chr14:35834200-35840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:35834200-35840200	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:35834400-35835600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:35834400-35835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:35834400-35835600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:35834400-35835800	Enhancers	Brain Hippocampus Middle	brain
44	chr14:35834400-35835800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:35834400-35835800	Enhancers	A549	lung
46	chr14:35834400-35835800	Flanking Active TSS	HepG2	liver
47	chr14:35834400-35836000	Enhancers	Brain Angular Gyrus	brain
48	chr14:35834400-35836000	Enhancers	Brain Anterior Caudate	brain
49	chr14:35834400-35836000	Enhancers	Psoas Muscle	Psoas
50	chr14:35834400-35836200	Enhancers	Esophagus	oesophagus

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