Variant report

Variant	rs17370695
Chromosome Location	chr5:92906685-92906686
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr5:92906350-92906752	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:92905932-92907383	H1-hESC	embryonic stem cell:	n/a	chr5:92906619-92906629
3	TBP	chr5:92906364-92906957	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:92906081-92906982	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr5:92906339-92906689	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr5:92905929-92907212	GM12878	blood:	n/a	chr5:92906694-92906705 chr5:92906554-92906563 chr5:92906342-92906354 chr5:92906102-92906114
7	SRF	chr5:92906359-92906692	GM12878	blood:	n/a	n/a
8	E2F6	chr5:92905983-92907251	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr5:92906352-92906686	H1-hESC	embryonic stem cell:	n/a	chr5:92906517-92906526
10	SRF	chr5:92906210-92906846	H1-hESC	embryonic stem cell:	n/a	chr5:92906750-92906760
11	MAX	chr5:92905947-92907259	H1-hESC	embryonic stem cell:	n/a	chr5:92906619-92906629
12	SIN3A	chr5:92906224-92907174	H1-hESC	embryonic stem cell:	n/a	chr5:92906986-92906996
13	GABPA	chr5:92906311-92906753	H1-hESC	embryonic stem cell:	n/a	chr5:92906347-92906361 chr5:92906517-92906526
14	CTBP2	chr5:92905977-92907351	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr5:92905416-92908330	H1-hESC	embryonic stem cell:	n/a	chr5:92907262-92907274 chr5:92907899-92907908 chr5:92907986-92907998

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92906678-92906728	SK-N-SH_RA	brain:	n/a
2	chr5:92906678-92906728	Hela-S3	cervix:	n/a
3	chr5:92906678-92906728	GM19239	blood:	n/a
4	chr5:92906678-92906728	SAEC	small airway:	n/a
5	chr5:92906678-92906728	SK-N-MC	brain:	n/a
6	chr5:92906678-92906728	HRPEpiC	eye:	n/a
7	chr5:92906678-92906728	HMEC	breast:	n/a
8	chr5:92906678-92906728	AG04450	lung:	fetal
9	chr5:92906678-92906728	NB4	blood:	n/a
10	chr5:92906678-92906728	A549	lung:	n/a
11	chr5:92906678-92906728	K562	blood:	n/a
12	chr5:92906678-92906728	NHDF-neo	bronchial:	n/a
13	chr5:92906678-92906728	HNPCEpiC	eye:	n/a
14	chr5:92906678-92906728	HEEpiC	esophagus:	n/a
15	chr5:92906678-92906728	HEK293	kidney:	embryo
16	chr5:92906678-92906728	CMK	blood:	n/a
17	chr5:92906678-92906728	PANC-1	pancreas:	n/a
18	chr5:92906678-92906728	PFSK-1	brain:	n/a
19	chr5:92906678-92906728	HCPEpiC	choroid plexus:	n/a
20	chr5:92906678-92906728	AoSMC	blood vessel:	n/a
21	chr5:92906678-92906728	GM12892	blood:	n/a
22	chr5:92906678-92906728	HepG2	liver:	n/a
23	chr5:92906678-92906728	AG09319	gingival:	n/a
24	chr5:92906678-92906728	HCT-116	colon:	n/a
25	chr5:92906678-92906728	AG10803	skin:	n/a
26	chr5:92906678-92906728	GM12878	blood:	n/a
27	chr5:92906678-92906728	NH-A	brain:	n/a
28	chr5:92906678-92906728	LNCaP	prostate:	n/a
29	chr5:92906678-92906728	HCF	heart:	n/a
30	chr5:92906678-92906728	H1-hESC	embryonic stem cell:	embryo
31	chr5:92906678-92906728	MCF-7	breast:	n/a
32	chr5:92906678-92906728	U87	brain:	n/a
33	chr5:92906678-92906728	SKMC	muscle:	n/a
34	chr5:92906678-92906728	GM06990	blood:	n/a
35	chr5:92906678-92906728	AG09309	skin:	n/a
36	chr5:92906678-92906728	SK-N-SH	brain:	n/a
37	chr5:92906678-92906728	BJ	skin:	n/a
38	chr5:92906678-92906728	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:92906678-92906728	AG04449	skin:	fetal
40	chr5:92906678-92906728	HAEpiC	amniotic membrane:	n/a
41	chr5:92906678-92906728	ECC-1	luminal epithelium:	n/a
42	chr5:92906678-92906728	ProgFib	skin:	n/a
43	chr5:92906678-92906728	RPTEC	kidney:	n/a
44	chr5:92906678-92906728	MCF10A-Er-Src	breast:	n/a
45	chr5:92906678-92906728	HIPEpiC	eye:	n/a
46	chr5:92906678-92906728	HCM	heart:	n/a
47	chr5:92906678-92906728	Caco-2	colon:	n/a
48	chr5:92906678-92906728	HRCEpiC	kidney:	n/a
49	chr5:92906678-92906728	Jurkat	blood:	n/a
50	chr5:92906678-92906728	PrEC	prostate:	n/a

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR2F1-1	chr5:92906435-92907480	XLOC_004475
2	lnc-NR2F1-1	chr5:92906526-92907480	XLOC_004475
3	lnc-FAM172A-2	chr5:92906204-92907441	NONHSAT102809
4	lnc-FAM172A-2	chr5:92906204-92907049	NR_109825
5	lnc-FAM172A-2	chr5:92905596-92907049	ENSG00000237187.4
6	lnc-NR2F1-1	chr5:92906562-92907480	NONHSAT102804
7	lnc-NR2F1-1	chr5:92906676-92907480	NONHSAT102813
8	lnc-NR2F1-1	chr5:92905603-92907480	NONHSAT102810

No data

Variant related genes	Relation type
NR2F1-AS1	TF binding region
NR2F1-AS1	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10041792	0.88[JPT][hapmap]
rs1004941	0.88[JPT][hapmap]
rs10050364	0.86[JPT][hapmap]
rs10051878	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10060331	0.86[JPT][hapmap]
rs10067541	0.88[JPT][hapmap]
rs10071040	0.88[JPT][hapmap]
rs1038686	0.86[JPT][hapmap]
rs1046217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10476520	0.88[JPT][hapmap]
rs10514376	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12186735	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12187239	0.93[ASN][1000 genomes]
rs12188716	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188905	0.93[ASN][1000 genomes]
rs13154650	0.86[JPT][hapmap]
rs13161885	0.86[JPT][hapmap]
rs17082127	0.86[ASN][1000 genomes]
rs17082129	0.86[ASN][1000 genomes]
rs17083181	0.86[ASN][1000 genomes]
rs17083191	0.93[ASN][1000 genomes]
rs17083194	0.93[ASN][1000 genomes]
rs17083198	0.93[ASN][1000 genomes]
rs17083200	0.93[ASN][1000 genomes]
rs17083213	0.93[ASN][1000 genomes]
rs17083228	0.93[ASN][1000 genomes]
rs17083278	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17083297	0.86[JPT][hapmap]
rs17312456	0.86[JPT][hapmap]
rs1824153	0.86[ASN][1000 genomes]
rs1844343	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2083227	0.86[ASN][1000 genomes]
rs2279473	0.86[ASN][1000 genomes]
rs3776601	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs57690257	0.86[ASN][1000 genomes]
rs59360932	0.93[ASN][1000 genomes]
rs61324921	0.86[ASN][1000 genomes]
rs61352323	0.93[ASN][1000 genomes]
rs6556823	0.86[ASN][1000 genomes]
rs6556824	0.93[ASN][1000 genomes]
rs6556829	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6866771	0.93[ASN][1000 genomes]
rs6877616	0.86[JPT][hapmap]
rs6879816	0.93[ASN][1000 genomes]
rs6880843	0.86[ASN][1000 genomes]
rs6881815	0.86[JPT][hapmap]
rs6884138	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6889857	0.93[ASN][1000 genomes]
rs6890998	0.86[JPT][hapmap]
rs6895356	0.88[JPT][hapmap]
rs6898507	0.86[JPT][hapmap]
rs73133228	0.86[ASN][1000 genomes]
rs73133239	0.86[ASN][1000 genomes]
rs73133251	0.93[ASN][1000 genomes]
rs73133261	0.93[ASN][1000 genomes]
rs73133265	0.93[ASN][1000 genomes]
rs73133275	0.93[ASN][1000 genomes]
rs73133278	0.93[ASN][1000 genomes]
rs73133280	0.93[ASN][1000 genomes]
rs73133282	0.93[ASN][1000 genomes]
rs73133283	0.93[ASN][1000 genomes]
rs73133287	0.93[ASN][1000 genomes]
rs73133289	0.93[ASN][1000 genomes]
rs73133292	0.93[ASN][1000 genomes]
rs73133301	0.93[ASN][1000 genomes]
rs73135320	0.86[ASN][1000 genomes]
rs73135321	0.86[ASN][1000 genomes]
rs73772907	0.89[ASN][1000 genomes]
rs7702348	0.88[JPT][hapmap]
rs7702649	0.86[JPT][hapmap]
rs7712388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7712899	0.93[ASN][1000 genomes]
rs7717718	0.88[JPT][hapmap]
rs7721168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721509	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7727107	0.93[ASN][1000 genomes]
rs7736624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9314086	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022355	chr5:92846496-92911797	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	nsv537807	chr5:92846496-92911797	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
3	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92860000-92908000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:92889600-92909800	Weak transcription	Ovary	ovary
3	chr5:92900600-92908200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:92900800-92914400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:92901000-92907200	Weak transcription	Osteobl	bone
6	chr5:92901000-92908000	Weak transcription	NH-A	brain
7	chr5:92903600-92907200	Weak transcription	Fetal Kidney	kidney
8	chr5:92904800-92907000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:92905400-92907600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:92905400-92910200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:92905600-92907000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:92905600-92907200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:92905600-92907600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr5:92905600-92908800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:92905600-92908800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:92905600-92909400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr5:92905600-92909600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:92905600-92909600	ZNF genes & repeats	Placenta	Placenta
19	chr5:92905800-92907000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:92905800-92907000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
21	chr5:92905800-92907600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:92905800-92909600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:92906000-92906800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:92906000-92906800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:92906000-92906800	Bivalent Enhancer	Fetal Heart	heart
26	chr5:92906000-92906800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr5:92906000-92906800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr5:92906000-92907000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:92906000-92907000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:92906000-92907000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:92906000-92907000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr5:92906000-92907200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr5:92906000-92907200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr5:92906000-92907200	Bivalent Enhancer	Lung	lung
35	chr5:92906000-92907800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:92906000-92909000	Bivalent Enhancer	Spleen	Spleen
37	chr5:92906000-92909200	Enhancers	Pancreas	Pancrea
38	chr5:92906000-92911200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr5:92906200-92906800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:92906200-92906800	Bivalent Enhancer	Primary B cells from cord blood	blood
42	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:92906200-92906800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:92906200-92906800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:92906200-92906800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr5:92906200-92907000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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