Variant report

Variant	rs11683477
Chromosome Location	chr2:208927892-208927893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208393455..208396354-chr2:208925710..208928306,2	K562	blood:
2	chr2:208926513..208930859-chr2:208931530..208934190,4	K562	blood:
3	chr2:208489759..208491901-chr2:208925964..208928924,2	K562	blood:

Variant related genes	Relation type
ENSG00000144401	Chromatin interaction
ENSG00000223725	Chromatin interaction
ENSG00000118260	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10932231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932232	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932233	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932238	0.89[ASN][1000 genomes]
rs11681747	0.90[ASN][1000 genomes]
rs11694118	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11892539	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11892554	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11894673	0.97[ASN][1000 genomes]
rs11896152	0.99[ASN][1000 genomes]
rs11896248	0.99[ASN][1000 genomes]
rs12465847	0.86[ASN][1000 genomes]
rs12987978	0.99[ASN][1000 genomes]
rs16840404	0.99[ASN][1000 genomes]
rs17538082	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2123296	0.89[ASN][1000 genomes]
rs34100088	0.99[ASN][1000 genomes]
rs35306034	0.99[ASN][1000 genomes]
rs4234085	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4287753	0.99[ASN][1000 genomes]
rs4673378	0.93[ASN][1000 genomes]
rs4675729	0.97[ASN][1000 genomes]
rs4675730	0.97[ASN][1000 genomes]
rs4675731	0.89[ASN][1000 genomes]
rs62192797	0.97[ASN][1000 genomes]
rs6711974	0.97[ASN][1000 genomes]
rs6723206	0.97[ASN][1000 genomes]
rs6727089	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6727122	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6735060	0.89[ASN][1000 genomes]
rs6746998	1.00[ASN][1000 genomes]
rs7422654	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7422655	0.91[ASN][1000 genomes]
rs896637	0.88[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:208926400-208928800	Enhancers	Fetal Brain Male	brain
3	chr2:208927800-208929000	Weak transcription	K562	blood

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