Variant report

Variant	rs16864312
Chromosome Location	chr1:171250216-171250217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16864314	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864332	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864359	1.00[ASN][1000 genomes]
rs16864362	1.00[ASN][1000 genomes]
rs16864364	1.00[ASN][1000 genomes]
rs16864368	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16864389	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16864392	1.00[JPT][hapmap]
rs16864395	1.00[JPT][hapmap]
rs16864396	1.00[JPT][hapmap]
rs16864417	1.00[JPT][hapmap]
rs2038097	1.00[ASN][1000 genomes]
rs28360417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28360425	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28360434	1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28360435	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28360438	1.00[AFR][1000 genomes]
rs45443493	1.00[ASN][1000 genomes]
rs45552133	1.00[ASN][1000 genomes]
rs58887979	1.00[ASN][1000 genomes]
rs6674736	1.00[JPT][hapmap]
rs6685422	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6699241	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs717023	1.00[JPT][hapmap]
rs717024	1.00[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	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	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171237800-171255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:171238600-171253600	Weak transcription	Ovary	ovary
3	chr1:171241600-171255200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:171249000-171251000	Enhancers	Primary B cells from cord blood	blood
5	chr1:171249000-171252200	Strong transcription	Fetal Intestine Large	intestine
6	chr1:171249000-171255200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:171249200-171262000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:171249800-171250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:171250000-171250400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:171250000-171252200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:171250200-171255000	Weak transcription	Pancreas	Pancrea

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