Variant report

Variant	rs234680
Chromosome Location	chr1:184888653-184888654
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	chr1:184887491..184889257-chr1:184889675..184892601,2	K562	blood:
2	chr1:184886833..184888991-chr1:184889579..184891175,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs180046	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs186817	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234110	1.00[CEU][hapmap]
rs234634	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[EUR][1000 genomes]
rs234635	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs234651	0.89[CEU][hapmap]
rs234652	0.89[CEU][hapmap]
rs234653	0.87[CEU][hapmap]
rs234654	0.89[CEU][hapmap]
rs234656	0.89[CEU][hapmap]
rs234681	0.87[EUR][1000 genomes]
rs234682	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs234683	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs234685	0.95[EUR][1000 genomes]
rs28927681	0.89[CEU][hapmap]
rs41321748	0.89[CEU][hapmap]
rs569243	0.89[CEU][hapmap]
rs603160	0.89[CEU][hapmap]
rs639593	0.89[CEU][hapmap]
rs642027	0.89[CEU][hapmap]
rs73050699	0.93[EUR][1000 genomes]
rs7528626	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184863000-184905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:184874800-184888800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:184877000-184899800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:184883600-184902800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:184885200-184890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:184886000-184889400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:184886200-184898600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:184887200-184889200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:184887400-184889200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:184887400-184889200	Weak transcription	GM12878-XiMat	blood
11	chr1:184887600-184899000	Weak transcription	Aorta	Aorta
12	chr1:184887800-184888800	Enhancers	Small Intestine	intestine
13	chr1:184887800-184889200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:184888200-184889200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:184888600-184888800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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