Variant report

Variant	rs11689575
Chromosome Location	chr2:145527778-145527779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145523400..145525939-chr2:145527305..145529468,2	K562	blood:

Variant related genes	Relation type
ENSG00000226674	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11674685	0.97[EUR][1000 genomes]
rs11675927	0.84[CEU][hapmap];0.97[EUR][1000 genomes]
rs11681525	0.97[EUR][1000 genomes]
rs11687464	0.97[EUR][1000 genomes]
rs11689322	0.92[CEU][hapmap]
rs11691685	0.85[EUR][1000 genomes]
rs1427497	1.00[JPT][hapmap]
rs1427498	1.00[JPT][hapmap]
rs1559963	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4384720	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57477957	1.00[ASN][1000 genomes]
rs57834922	1.00[ASN][1000 genomes]
rs58504774	1.00[ASN][1000 genomes]
rs58811157	1.00[ASN][1000 genomes]
rs59042570	1.00[ASN][1000 genomes]
rs66537831	1.00[ASN][1000 genomes]
rs6718158	1.00[ASN][1000 genomes]
rs6720379	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67365209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67382063	1.00[ASN][1000 genomes]
rs6752912	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756405	0.81[EUR][1000 genomes]
rs68017203	1.00[ASN][1000 genomes]
rs72852118	1.00[ASN][1000 genomes]
rs72852120	1.00[ASN][1000 genomes]
rs72852133	1.00[ASN][1000 genomes]
rs72852150	0.81[EUR][1000 genomes]
rs72852164	0.97[EUR][1000 genomes]
rs72852199	0.97[EUR][1000 genomes]
rs72853207	0.97[EUR][1000 genomes]
rs72853210	0.97[EUR][1000 genomes]
rs72853221	0.97[EUR][1000 genomes]
rs72853226	0.97[EUR][1000 genomes]
rs72853247	0.97[EUR][1000 genomes]
rs72853253	0.97[EUR][1000 genomes]
rs72853263	0.97[EUR][1000 genomes]
rs72993904	1.00[ASN][1000 genomes]
rs72993910	1.00[ASN][1000 genomes]
rs72997876	1.00[ASN][1000 genomes]
rs72999719	1.00[ASN][1000 genomes]
rs72999723	1.00[ASN][1000 genomes]
rs72999734	1.00[ASN][1000 genomes]
rs72999737	1.00[ASN][1000 genomes]
rs72999751	1.00[ASN][1000 genomes]
rs72999753	1.00[ASN][1000 genomes]
rs73001719	1.00[ASN][1000 genomes]
rs73001730	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001732	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001735	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001749	1.00[ASN][1000 genomes]
rs73001751	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001753	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001755	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73001758	1.00[ASN][1000 genomes]
rs73003700	1.00[ASN][1000 genomes]
rs73005508	1.00[ASN][1000 genomes]
rs73005510	1.00[ASN][1000 genomes]
rs73962039	1.00[ASN][1000 genomes]
rs73962041	1.00[ASN][1000 genomes]
rs73963904	1.00[ASN][1000 genomes]
rs7595770	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145525600-145535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:145527200-145527800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:145527400-145528800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:145527400-145528800	Enhancers	Fetal Intestine Large	intestine
5	chr2:145527400-145528800	Enhancers	Fetal Intestine Small	intestine
6	chr2:145527400-145529400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:145527600-145529400	Enhancers	Cortex derived primary cultured neurospheres	brain

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