Variant report

Variant	rs11589455
Chromosome Location	chr1:185945409-185945410
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185942719..185945777-chr1:185948819..185950907,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10047250	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10157843	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10489717	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10489718	1.00[CEU][hapmap]
rs10911784	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[EUR][1000 genomes]
rs10911785	1.00[CEU][hapmap]
rs10911787	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs10911788	1.00[CEU][hapmap]
rs10911789	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1116146	1.00[EUR][1000 genomes]
rs11580879	1.00[EUR][1000 genomes]
rs11586768	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[EUR][1000 genomes]
rs11586771	0.91[EUR][1000 genomes]
rs11800990	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11804668	1.00[CEU][hapmap]
rs12059676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12062879	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12067376	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12068599	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12068829	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12073492	0.91[EUR][1000 genomes]
rs12077084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087462	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs12088513	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12088571	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12094899	0.91[EUR][1000 genomes]
rs1322361	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1407427	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[EUR][1000 genomes]
rs1555494	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs16824945	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16825012	1.00[CEU][hapmap]
rs28535260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34427602	0.83[AFR][1000 genomes]
rs35875123	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41397650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs4288554	1.00[CEU][hapmap]
rs6425011	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6662653	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6672327	1.00[CEU][hapmap]
rs6675465	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6695626	1.00[CEU][hapmap]
rs72718862	1.00[EUR][1000 genomes]
rs72718864	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72718865	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72718867	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72718875	1.00[EUR][1000 genomes]
rs72718880	1.00[EUR][1000 genomes]
rs7527214	1.00[CEU][hapmap]
rs7539719	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs7546152	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7552194	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185937000-185964000	Weak transcription	Aorta	Aorta
5	chr1:185938600-185946600	Weak transcription	Fetal Kidney	kidney
6	chr1:185938800-185990200	Weak transcription	Liver	Liver
7	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:185939000-185953600	Weak transcription	Fetal Lung	lung
9	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:185939800-185958600	Weak transcription	Left Ventricle	heart
12	chr1:185943800-185953200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:185944200-185959400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:185945400-185946800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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