Variant report

Variant	rs16904149
Chromosome Location	chr8:91229254-91229255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr8:91228846-91229396	K562	blood:	n/a	chr8:91229208-91229224

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:91204194..91205708-chr8:91228798..91230324,2	K562	blood:
2	chr8:91208888..91210489-chr8:91226599..91229382,2	K562	blood:
3	chr8:91207044..91210489-chr8:91227882..91229931,3	K562	blood:
4	chr8:91221104..91224664-chr8:91229053..91233226,4	K562	blood:
5	chr8:91228314..91231823-chr8:91238061..91241526,6	K562	blood:
6	chr8:91227850..91231823-chr8:91238006..91241292,4	K562	blood:
7	chr8:91224805..91227495-chr8:91228169..91229978,3	K562	blood:

No data

Variant related genes	Relation type
LINC00534	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10108327	0.85[AMR][1000 genomes]
rs12056604	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12545140	0.88[AMR][1000 genomes]
rs12546302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548716	0.85[AFR][1000 genomes]
rs12549515	0.82[AMR][1000 genomes]
rs12549630	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549660	0.90[AMR][1000 genomes]
rs12549875	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550324	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904193	0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs16904195	0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap]
rs2189257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285725	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735301	0.85[AMR][1000 genomes]
rs59497517	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67422313	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016389	0.88[AMR][1000 genomes]
rs72606643	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72606646	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72606647	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72606648	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72606649	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72606650	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72606651	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606652	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606653	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606654	0.86[EUR][1000 genomes]
rs72606655	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606656	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606657	0.87[AMR][1000 genomes]
rs7824654	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826142	0.95[EUR][1000 genomes]
rs970473	0.88[AMR][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	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91225200-91229800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:91225400-91229400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:91225600-91229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:91226000-91229800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:91227800-91229400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:91227800-91232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:91228000-91229400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:91228000-91229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:91228400-91229400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:91228400-91236800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:91228800-91229400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:91229200-91232000	Weak transcription	K562	blood

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