Variant report

Variant	rs11685243
Chromosome Location	chr2:152798242-152798243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152793920..152795775-chr2:152797022..152799069,2	K562	blood:
2	chr2:152789335..152791707-chr2:152796780..152799093,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11676431	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678607	0.80[EUR][1000 genomes]
rs11680386	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681677	0.80[EUR][1000 genomes]
rs11682945	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686932	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687218	0.80[EUR][1000 genomes]
rs11688428	0.80[EUR][1000 genomes]
rs11688476	0.80[EUR][1000 genomes]
rs11688687	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830427	0.80[EUR][1000 genomes]
rs16830540	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244681	0.80[EUR][1000 genomes]
rs4664071	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664507	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736804	0.80[EUR][1000 genomes]
rs62174451	0.80[EUR][1000 genomes]
rs62174452	0.80[EUR][1000 genomes]
rs62174454	0.80[EUR][1000 genomes]
rs62174456	0.80[EUR][1000 genomes]
rs62174457	0.80[EUR][1000 genomes]
rs62174459	0.80[EUR][1000 genomes]
rs62175660	0.80[EUR][1000 genomes]
rs62175661	0.80[EUR][1000 genomes]
rs62175662	0.80[EUR][1000 genomes]
rs62175663	0.80[EUR][1000 genomes]
rs62175664	0.80[EUR][1000 genomes]
rs62175665	0.80[EUR][1000 genomes]
rs62175666	0.80[EUR][1000 genomes]
rs62175667	0.80[EUR][1000 genomes]
rs62175668	0.80[EUR][1000 genomes]
rs62175712	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175715	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175745	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175748	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175749	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175750	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175751	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175752	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175753	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175754	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175755	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175756	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175757	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175758	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175759	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176760	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176761	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176762	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176763	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176764	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176765	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176766	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176768	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176795	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176796	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176797	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176798	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176799	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176800	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176801	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176802	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176803	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732157	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756253	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3515323	chr2:152797406-152800404	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3515322	chr2:152797856-152800254	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152792800-152803200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:152793600-152800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152794400-152803600	Weak transcription	Psoas Muscle	Psoas
4	chr2:152796400-152799800	Weak transcription	HepG2	liver
5	chr2:152797200-152803000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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