Variant report

Variant	rs3014268
Chromosome Location	chr1:227558822-227558823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:227503449..227507598-chr1:227555312..227559428,5	K562	blood:
2	chr1:227503449..227507598-chr1:227555312..227559110,4	K562	blood:
3	chr1:227554602..227556640-chr1:227558228..227560201,2	K562	blood:
4	chr1:227554260..227555782-chr1:227558774..227561008,2	K562	blood:
5	chr1:227545277..227548710-chr1:227557152..227561579,4	K562	blood:
6	chr1:227544961..227546777-chr1:227556862..227559703,3	K562	blood:
7	chr1:227556870..227561275-chr1:227563192..227568675,6	K562	blood:
8	chr1:227519023..227520761-chr1:227558780..227560825,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10916132	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10916134	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs10916142	0.88[GIH][hapmap]
rs12028062	0.88[GIH][hapmap]
rs12030548	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12047468	0.93[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2953640	0.93[CHB][hapmap];0.96[CHD][hapmap]
rs2953651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014257	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014258	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014270	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72761392	0.86[AMR][1000 genomes]
rs7529685	0.86[AMR][1000 genomes]
rs7546896	0.86[AMR][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:227556600-227559200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:227556800-227559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:227556800-227560800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:227556800-227560800	Enhancers	Stomach Mucosa	stomach
6	chr1:227556800-227561200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:227556800-227561200	Enhancers	HUVEC	blood vessel
8	chr1:227557000-227559000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:227557200-227559600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:227557200-227565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:227557800-227559000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:227558000-227559000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:227558000-227560600	Enhancers	A549	lung
14	chr1:227558200-227560000	Enhancers	K562	blood
15	chr1:227558400-227559000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:227558600-227560000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:227558600-227560000	Weak transcription	HSMM	muscle
18	chr1:227558600-227565400	Weak transcription	HSMMtube	muscle
19	chr1:227558600-227565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:227558800-227559800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:227558800-227560000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:227558800-227560000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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