Variant report

Variant	rs17434723
Chromosome Location	chr2:151232832-151232833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151226284..151229964-chr2:151230114..151233634,4	K562	blood:
2	chr2:151231581..151233321-chr2:151341388..151343560,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11903055	0.90[EUR][1000 genomes]
rs17350215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17350243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434648	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17434736	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66695478	0.90[EUR][1000 genomes]
rs6717130	0.90[EUR][1000 genomes]
rs72859536	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859540	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859568	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859573	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859575	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859588	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72859591	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72859592	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72859596	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72859601	1.00[EUR][1000 genomes]
rs72861403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861451	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72861498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72864110	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72864111	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72864114	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7586993	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2762924	chr2:151219089-151233089	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151227800-151233200	Weak transcription	Small Intestine	intestine
2	chr2:151228200-151233000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:151228600-151233000	Weak transcription	Hela-S3	cervix
4	chr2:151229400-151233000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:151230600-151234600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:151232000-151233000	Weak transcription	Psoas Muscle	Psoas
7	chr2:151232200-151233400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:151232200-151234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:151232400-151235800	Weak transcription	Fetal Heart	heart
10	chr2:151232800-151233200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:151232800-151233400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:151232800-151233800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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