Variant report

Variant	rs16864417
Chromosome Location	chr1:171312593-171312594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12076180	1.00[ASN][1000 genomes]
rs12076444	1.00[ASN][1000 genomes]
rs12122309	1.00[ASN][1000 genomes]
rs12122751	1.00[CHB][hapmap]
rs16828330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864312	1.00[JPT][hapmap]
rs16864314	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864332	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864389	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864392	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864395	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864396	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16864418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16864422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16864432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16864444	1.00[EUR][1000 genomes]
rs16864488	1.00[EUR][1000 genomes]
rs28360434	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs45474896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45479697	1.00[EUR][1000 genomes]
rs45542731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45570135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45613036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60349465	1.00[ASN][1000 genomes]
rs6659714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674736	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6685422	1.00[JPT][hapmap]
rs6699241	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs717023	1.00[JPT][hapmap]
rs717024	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7518815	1.00[ASN][1000 genomes]
rs7525073	1.00[ASN][1000 genomes]
rs7533673	1.00[EUR][1000 genomes]
rs7543159	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	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
5	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv548188	chr1:171308832-171371998	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171284200-171313600	Weak transcription	Right Ventricle	heart
2	chr1:171284200-171313800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:171288400-171313000	Weak transcription	Gastric	stomach
4	chr1:171289400-171313400	Weak transcription	Fetal Lung	lung
5	chr1:171289600-171313000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:171289800-171312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:171289800-171313000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:171299800-171314200	Weak transcription	Aorta	Aorta
9	chr1:171302400-171313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:171302800-171313000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:171305600-171315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:171312200-171313000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:171312400-171312600	Flanking Active TSS	Liver	Liver
14	chr1:171312400-171314400	Enhancers	Fetal Intestine Small	intestine

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