Variant report

Variant	rs1094602
Chromosome Location	chr1:228304285-228304286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228296014..228299457-chr1:228304209..228307181,3	K562	blood:
2	chr1:228303354..228305254-chr1:228314662..228317199,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162910	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10127705	1.00[EUR][1000 genomes]
rs10495278	0.96[EUR][1000 genomes]
rs10495279	0.96[EUR][1000 genomes]
rs10916266	1.00[EUR][1000 genomes]
rs1094603	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11577976	1.00[EUR][1000 genomes]
rs11580599	0.96[EUR][1000 genomes]
rs11581169	1.00[EUR][1000 genomes]
rs11582369	0.85[EUR][1000 genomes]
rs1188975	0.82[ASN][1000 genomes]
rs1188977	0.82[ASN][1000 genomes]
rs12034268	0.96[EUR][1000 genomes]
rs12039801	0.96[EUR][1000 genomes]
rs12740965	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1620734	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1745420	0.82[ASN][1000 genomes]
rs1771486	0.85[EUR][1000 genomes]
rs1803695	1.00[EUR][1000 genomes]
rs28587961	1.00[EUR][1000 genomes]
rs34687764	1.00[EUR][1000 genomes]
rs3795773	1.00[EUR][1000 genomes]
rs3795774	1.00[EUR][1000 genomes]
rs41270177	0.82[ASN][1000 genomes]
rs41303083	1.00[EUR][1000 genomes]
rs4653906	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653908	0.96[EUR][1000 genomes]
rs4653909	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4653914	0.96[EUR][1000 genomes]
rs61825156	1.00[EUR][1000 genomes]
rs61825157	0.96[EUR][1000 genomes]
rs61825159	0.96[EUR][1000 genomes]
rs61827462	0.96[EUR][1000 genomes]
rs6663726	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668719	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs708126	0.82[ASN][1000 genomes]
rs7530253	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537552	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs822727	0.82[ASN][1000 genomes]
rs860301	0.84[ASN][1000 genomes]
rs9287011	1.00[EUR][1000 genomes]
rs9970544	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
6	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	91 gene(s)	inside rSNPs	diseases
10	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228298200-228304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:228298200-228307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:228298400-228307200	Weak transcription	NHEK	skin
4	chr1:228298800-228307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:228299800-228307200	Weak transcription	Placenta	Placenta
6	chr1:228300000-228305400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:228301800-228304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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