Variant report

Variant	rs17097907
Chromosome Location	chr14:31927622-31927623
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	FOXA1	chr14:31927347-31927872	T-47D	breast:	n/a	n/a
2	EP300	chr14:31927350-31927887	T-47D	breast:	n/a	n/a
3	MYBL2	chr14:31925789-31927904	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:31927299-31927966	HepG2	liver:	n/a	chr14:31927770-31927781
5	JUND	chr14:31927225-31927915	HepG2	liver:	n/a	chr14:31927535-31927544
6	CREB1	chr14:31927110-31927919	HepG2	liver:	n/a	n/a
7	BHLHE40	chr14:31927568-31927695	K562	blood:	n/a	n/a
8	FOXA1	chr14:31927229-31928016	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:31927588-31927796	H1-hESC	embryonic stem cell:	n/a	chr14:31927770-31927781
10	ESR1	chr14:31927353-31927854	T-47D	breast:	n/a	n/a
11	FOXA1	chr14:31925892-31928010	HepG2	liver:	n/a	chr14:31927001-31927013
12	MAFF	chr14:31927378-31927877	HepG2	liver:	n/a	n/a
13	TEAD4	chr14:31927495-31927942	HepG2	liver:	n/a	n/a
14	KAP1	chr14:31927470-31928079	U2OS	brain:	n/a	n/a
15	FOXA2	chr14:31927455-31927895	A549	lung:	n/a	n/a
16	GATA3	chr14:31927311-31927945	T-47D	breast:	n/a	chr14:31927933-31927943
17	FOXA1	chr14:31926387-31928034	HepG2	liver:	n/a	chr14:31927001-31927013
18	ESR1	chr14:31927335-31927803	T-47D	breast:	n/a	n/a
19	MYBL2	chr14:31925551-31928151	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:31927391-31927954	H1-neurons	neurons:	n/a	n/a
21	CEBPB	chr14:31927395-31928100	MCF-7	breast:	n/a	chr14:31927770-31927781
22	CEBPB	chr14:31927555-31927968	MCF-7	breast:	n/a	chr14:31927770-31927781
23	GATA3	chr14:31927243-31928147	MCF-7	breast:	n/a	chr14:31927933-31927943
24	JUND	chr14:31927369-31927693	K562	blood:	n/a	chr14:31927535-31927544
25	CEBPB	chr14:31927445-31927920	HepG2	liver:	n/a	chr14:31927770-31927781
26	EP300	chr14:31927305-31927900	HepG2	liver:	n/a	n/a
27	MAFK	chr14:31927535-31927673	K562	blood:	n/a	n/a
28	TEAD4	chr14:31925590-31928065	HepG2	liver:	n/a	n/a
29	CEBPB	chr14:31927518-31927890	HepG2	liver:	n/a	chr14:31927770-31927781
30	MBD4	chr14:31925870-31928127	HepG2	liver:	n/a	n/a
31	MXI1	chr14:31927358-31927873	HepG2	liver:	n/a	n/a
32	MXI1	chr14:31925672-31927739	SK-N-SH	brain:	n/a	n/a
33	ARID3A	chr14:31925760-31927934	HepG2	liver:	n/a	n/a
34	RFX5	chr14:31927289-31927822	HepG2	liver:	n/a	n/a
35	FOXA1	chr14:31927246-31927982	T-47D	breast:	n/a	n/a
36	FOXA1	chr14:31927301-31927988	HepG2	liver:	n/a	n/a
37	ESR1	chr14:31927301-31927877	T-47D	breast:	n/a	n/a
38	MAFK	chr14:31927354-31927849	HepG2	liver:	n/a	n/a
39	RCOR1	chr14:31927258-31927891	HepG2	liver:	n/a	n/a
40	GATA3	chr14:31927411-31927959	MCF-7	breast:	n/a	chr14:31927933-31927943
41	GATA3	chr14:31927211-31927955	T-47D	breast:	n/a	chr14:31927933-31927943
42	MAX	chr14:31925753-31927900	HepG2	liver:	n/a	chr14:31926734-31926744 chr14:31926649-31926659
43	JUN	chr14:31927152-31927910	HepG2	liver:	n/a	chr14:31927535-31927544 chr14:31927534-31927547
44	BHLHE40	chr14:31927411-31928024	HepG2	liver:	n/a	n/a
45	EP300	chr14:31927278-31928001	HepG2	liver:	n/a	n/a
46	FOXA2	chr14:31926831-31928327	HepG2	liver:	n/a	chr14:31927001-31927013
47	JUND	chr14:31927343-31928056	T-47D	breast:	n/a	chr14:31927535-31927544
48	FOXA2	chr14:31927191-31927967	HepG2	liver:	n/a	n/a
49	MAFK	chr14:31927394-31927876	HepG2	liver:	n/a	n/a
50	RAD21	chr14:31927534-31927942	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
2	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:

Variant related genes	Relation type
DTD2	TF binding region
ENSG00000203546	TF binding region
ENSG00000129493	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10139078	1.00[EUR][1000 genomes]
rs10143393	1.00[EUR][1000 genomes]
rs34292318	1.00[EUR][1000 genomes]
rs73253154	1.00[EUR][1000 genomes]
rs73253156	1.00[EUR][1000 genomes]
rs73253162	1.00[EUR][1000 genomes]
rs73257353	1.00[EUR][1000 genomes]
rs73257374	1.00[EUR][1000 genomes]
rs73259319	1.00[EUR][1000 genomes]
rs73259359	1.00[EUR][1000 genomes]
rs8005726	1.00[EUR][1000 genomes]
rs8013552	1.00[EUR][1000 genomes]
rs8020093	1.00[EUR][1000 genomes]
rs8021557	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31925200-31927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:31925600-31927800	Active TSS	Fetal Brain Female	brain
3	chr14:31926800-31927800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:31926800-31927800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:31926800-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:31927000-31927800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:31927000-31927800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:31927000-31927800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:31927000-31927800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr14:31927000-31927800	Flanking Active TSS	Liver	Liver
11	chr14:31927000-31927800	Flanking Active TSS	A549	lung
12	chr14:31927000-31927800	Enhancers	Hela-S3	cervix
13	chr14:31927000-31927800	Enhancers	HSMM	muscle
14	chr14:31927000-31928000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:31927000-31928000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:31927000-31928000	Enhancers	HSMMtube	muscle
17	chr14:31927000-31928200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:31927200-31927800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:31927200-31927800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:31927200-31927800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:31927200-31927800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:31927200-31927800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:31927200-31927800	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:31927200-31927800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:31927200-31927800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:31927200-31927800	Flanking Active TSS	Fetal Brain Male	brain
27	chr14:31927200-31927800	Enhancers	Fetal Kidney	kidney
28	chr14:31927200-31927800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:31927200-31927800	Enhancers	Stomach Mucosa	stomach
30	chr14:31927200-31927800	Enhancers	NHEK	skin
31	chr14:31927200-31927800	Enhancers	Osteobl	bone
32	chr14:31927200-31928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:31927200-31928200	Enhancers	Fetal Intestine Small	intestine
34	chr14:31927200-31931000	Weak transcription	HMEC	breast
35	chr14:31927200-31939000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:31927400-31927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:31927400-31927800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:31927400-31927800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:31927400-31927800	Enhancers	K562	blood
40	chr14:31927400-31927800	Enhancers	NH-A	brain
41	chr14:31927400-31928000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:31927400-31928000	Enhancers	Dnd41	blood
43	chr14:31927400-31928000	Enhancers	GM12878-XiMat	blood
44	chr14:31927400-31928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:31927400-31928200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:31927400-31931000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:31927400-31931000	Weak transcription	Primary B cells from cord blood	blood
48	chr14:31927400-31931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:31927600-31927800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:31927600-31927800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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