Variant report

Variant	rs12070707
Chromosome Location	chr1:171059971-171059972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr1:171059806-171060169	SK-N-SH	brain:	n/a	chr1:171059911-171059922
2	PBX3	chr1:171059682-171060008	SK-N-SH	brain:	n/a	chr1:171059911-171059922

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171059935-171059985	NHDF-neo	bronchial:	n/a
2	chr1:171059935-171059985	SKMC	muscle:	n/a
3	chr1:171059935-171059985	BE2_C	brain:	n/a
4	chr1:171059935-171059985	AG04449	skin:	fetal
5	chr1:171059935-171059985	U87	brain:	n/a
6	chr1:171059935-171059985	GM19239	blood:	n/a
7	chr1:171059935-171059985	HIPEpiC	eye:	n/a
8	chr1:171059935-171059985	SK-N-SH_RA	brain:	n/a
9	chr1:171059935-171059985	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:171059935-171059985	HNPCEpiC	eye:	n/a
11	chr1:171059935-171059985	NH-A	brain:	n/a
12	chr1:171059935-171059985	PrEC	prostate:	n/a
13	chr1:171059935-171059985	AG04450	lung:	fetal
14	chr1:171059935-171059985	NT2-D1	testis:	n/a
15	chr1:171059935-171059985	Jurkat	blood:	n/a
16	chr1:171059935-171059985	HL-60	blood:	n/a
17	chr1:171059935-171059985	PFSK-1	brain:	n/a
18	chr1:171059935-171059985	Hepatocyte	liver:	n/a
19	chr1:171059935-171059985	MCF-7	breast:	n/a
20	chr1:171059935-171059985	HCT-116	colon:	n/a
21	chr1:171059935-171059985	AG09319	gingival:	n/a
22	chr1:171059935-171059985	Caco-2	colon:	n/a
23	chr1:171059935-171059985	HRPEpiC	eye:	n/a
24	chr1:171059935-171059985	HUVEC	blood vessel:	n/a
25	chr1:171059935-171059985	GM12878	blood:	n/a
26	chr1:171059935-171059985	LNCaP	prostate:	n/a
27	chr1:171059935-171059985	RPTEC	kidney:	n/a
28	chr1:171059935-171059985	H1-hESC	embryonic stem cell:	embryo
29	chr1:171059935-171059985	ECC-1	luminal epithelium:	n/a
30	chr1:171059935-171059985	AG09309	skin:	n/a
31	chr1:171059935-171059985	SK-N-SH	brain:	n/a
32	chr1:171059935-171059985	GM12891	blood:	n/a
33	chr1:171059935-171059985	A549	lung:	n/a
34	chr1:171059935-171059985	HCPEpiC	choroid plexus:	n/a
35	chr1:171059935-171059985	NB4	blood:	n/a
36	chr1:171059935-171059985	PANC-1	pancreas:	n/a
37	chr1:171059935-171059985	GM12892	blood:	n/a
38	chr1:171059935-171059985	HEK293	kidney:	embryo
39	chr1:171059935-171059985	HCF	heart:	n/a
40	chr1:171059935-171059985	SK-N-MC	brain:	n/a
41	chr1:171059935-171059985	SAEC	small airway:	n/a
42	chr1:171059935-171059985	MCF10A-Er-Src	breast:	n/a
43	chr1:171059935-171059985	AoSMC	blood vessel:	n/a
44	chr1:171059935-171059985	T-47D	breast:	n/a
45	chr1:171059935-171059985	HCM	heart:	n/a
46	chr1:171059935-171059985	IMR90	lung:	fetal
47	chr1:171059935-171059985	K562	blood:	n/a
48	chr1:171059935-171059985	BJ	skin:	n/a
49	chr1:171059935-171059985	HAEpiC	amniotic membrane:	n/a
50	chr1:171059935-171059985	CMK	blood:	n/a

No data

Variant related genes	Relation type
FMO3	TF binding region
FMO3	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10912559	1.00[AMR][1000 genomes]
rs10912597	1.00[AMR][1000 genomes]
rs12062612	1.00[AMR][1000 genomes]
rs12072582	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073562	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082524	1.00[AMR][1000 genomes]
rs12354013	1.00[AMR][1000 genomes]
rs12354030	1.00[AMR][1000 genomes]
rs6661174	1.00[AMR][1000 genomes]
rs6664553	1.00[AMR][1000 genomes]
rs6671692	1.00[AMR][1000 genomes]
rs6672456	1.00[AMR][1000 genomes]
rs6701702	1.00[AMR][1000 genomes]
rs7054006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030605	1.00[AMR][1000 genomes]
rs7517460	1.00[AMR][1000 genomes]
rs7536646	1.00[AMR][1000 genomes]
rs7536745	1.00[AMR][1000 genomes]
rs7552423	0.86[YRI][hapmap]

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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171059400-171060000	Flanking Active TSS	Liver	Liver

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