Variant report

Variant	rs3014252
Chromosome Location	chr1:227547548-227547549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227545277..227548710-chr1:227557152..227561579,4	K562	blood:
2	chr1:227502250..227505928-chr1:227547015..227550007,4	K562	blood:
3	chr1:227502375..227508330-chr1:227544221..227551404,10	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10495255	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs12035986	1.00[JPT][hapmap]
rs12044287	0.94[JPT][hapmap]
rs12137591	0.94[JPT][hapmap]
rs12565871	0.94[JPT][hapmap]
rs2953637	0.86[ASN][1000 genomes]
rs2953638	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2953641	0.95[ASN][1000 genomes]
rs2953643	0.97[ASN][1000 genomes]
rs2953645	0.97[ASN][1000 genomes]
rs2953650	1.00[ASN][1000 genomes]
rs2953652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs2953653	0.96[ASN][1000 genomes]
rs2953655	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2953656	0.97[ASN][1000 genomes]
rs3014253	0.93[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs3014256	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3014263	0.97[ASN][1000 genomes]
rs3014267	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3014271	0.91[ASN][1000 genomes]
rs3795457	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs4339829	0.86[CHB][hapmap];0.94[JPT][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3014252	HHIPL2	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227544200-227547600	Enhancers	Lung	lung
2	chr1:227545800-227547600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:227545800-227550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:227545800-227552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:227545800-227571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:227546600-227548200	Weak transcription	Right Atrium	heart
7	chr1:227547000-227548400	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:227547200-227551600	Weak transcription	K562	blood
9	chr1:227547400-227547600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:227547400-227548200	Enhancers	Brain Angular Gyrus	brain
11	chr1:227547400-227548400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:227547400-227548400	Enhancers	Brain Substantia Nigra	brain

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