Variant report

Variant	rs12631697
Chromosome Location	chr3:47518490-47518491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr3:47516150-47518513	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47421161..47424382-chr3:47515710..47518539,3	MCF-7	breast:
2	chr3:47515959..47519018-chr3:47554813..47558530,7	K562	blood:
3	chr3:47516853..47519140-chr3:47552540..47554804,2	K562	blood:
4	chr3:47517000..47518898-chr3:47553503..47555286,3	MCF-7	breast:
5	chr3:47421212..47424258-chr3:47516702..47519185,3	K562	blood:
6	chr3:47515849..47519127-chr3:47552237..47555413,3	MCF-7	breast:
7	chr3:47514858..47522453-chr3:47552535..47558710,16	K562	blood:

No data

Variant related genes	Relation type
SCAP	TF binding region
ENSG00000163832	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000260236	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs1038391	0.83[YRI][hapmap]
rs1038393	1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	1.00[EUR][1000 genomes]
rs1091068	1.00[EUR][1000 genomes]
rs11707272	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11714816	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs13077134	1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs1531874	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1872165	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs295431	1.00[EUR][1000 genomes]
rs295432	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295434	1.00[EUR][1000 genomes]
rs295443	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs295448	1.00[EUR][1000 genomes]
rs295450	1.00[EUR][1000 genomes]
rs295451	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295457	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs295459	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4383546	0.89[AMR][1000 genomes]
rs448018	1.00[EUR][1000 genomes]
rs4858812	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4858823	1.00[EUR][1000 genomes]
rs4858833	0.84[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442068	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442069	1.00[EUR][1000 genomes]
rs648226	1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6783591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785538	1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6789730	1.00[EUR][1000 genomes]
rs6791025	0.84[AMR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs7372780	1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs807930	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs900688	1.00[EUR][1000 genomes]
rs900689	1.00[EUR][1000 genomes]
rs900690	1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	1.00[EUR][1000 genomes]
rs900693	1.00[TSI][hapmap]
rs900694	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517400-47518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:47517400-47523000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:47517600-47518600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:47517600-47518600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:47517600-47518600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:47517600-47518600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr3:47517600-47518600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr3:47517600-47518800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr3:47517600-47523000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:47517800-47518600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr3:47517800-47518600	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr3:47517800-47518600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr3:47517800-47518600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:47517800-47518600	Flanking Active TSS	K562	blood
15	chr3:47517800-47518800	Enhancers	Spleen	Spleen
16	chr3:47517800-47518800	Flanking Active TSS	Dnd41	blood
17	chr3:47517800-47520600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:47517800-47523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:47517800-47527200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:47517800-47535200	Weak transcription	Esophagus	oesophagus
21	chr3:47517800-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
23	chr3:47518000-47518600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:47518000-47518600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:47518000-47518600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:47518000-47518600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:47518000-47518600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:47518000-47518600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:47518000-47518600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:47518000-47518600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:47518000-47518600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr3:47518000-47518600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr3:47518000-47518600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:47518000-47518600	Enhancers	Fetal Intestine Small	intestine
35	chr3:47518000-47518600	Enhancers	Placenta	Placenta
36	chr3:47518000-47518600	Enhancers	Fetal Thymus	thymus
37	chr3:47518000-47518600	Enhancers	Left Ventricle	heart
38	chr3:47518000-47518600	Enhancers	Ovary	ovary
39	chr3:47518000-47518600	Flanking Active TSS	Hela-S3	cervix
40	chr3:47518000-47518800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:47518000-47518800	Enhancers	Fetal Lung	lung
42	chr3:47518000-47518800	Enhancers	Lung	lung
43	chr3:47518000-47518800	Enhancers	Right Ventricle	heart
44	chr3:47518000-47520600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:47518000-47520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:47518000-47522000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:47518000-47523000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:47518000-47523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:47518200-47518600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:47518200-47518600	Enhancers	Primary B cells from cord blood	blood

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