Variant report

Variant	rs2038097
Chromosome Location	chr1:171259677-171259678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16864312	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16864314	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs16864332	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16864353	1.00[ASN][1000 genomes]
rs16864359	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864364	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864368	1.00[ASN][1000 genomes]
rs16864389	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864392	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16864395	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16864396	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16864417	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs28360425	1.00[ASN][1000 genomes]
rs28360434	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28360435	1.00[ASN][1000 genomes]
rs45443493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45452395	1.00[AMR][1000 genomes]
rs45458993	1.00[AMR][1000 genomes]
rs45490301	1.00[AMR][1000 genomes]
rs45508097	1.00[AMR][1000 genomes]
rs45520235	1.00[AMR][1000 genomes]
rs45552133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45560645	1.00[AMR][1000 genomes]
rs45569734	1.00[AMR][1000 genomes]
rs45579736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45627437	1.00[AMR][1000 genomes]
rs58887979	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6674736	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6685422	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6699241	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs717023	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs717024	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

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	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171249200-171262000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:171253800-171260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:171255200-171261200	Enhancers	Fetal Intestine Small	intestine
4	chr1:171256000-171261800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:171258000-171261000	Enhancers	Fetal Intestine Large	intestine
6	chr1:171259400-171260000	Enhancers	Rectal Mucosa Donor 31	rectum

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