Variant report

Variant	rs3008537
Chromosome Location	chr1:112496055-112496056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112495787..112497685-chr17:59489399..59490949,2	MCF-7	breast:
2	chr1:112495047..112496613-chr17:57921348..57923048,2	MCF-7	breast:
3	chr1:112495508..112498441-chr1:112499641..112501801,2	MCF-7	breast:
4	chr1:112494655..112497172-chr1:112500137..112501658,2	MCF-7	breast:
5	chr1:112480553..112482612-chr1:112494555..112496988,2	MCF-7	breast:
6	chr1:112494978..112497491-chr1:112517634..112519393,2	MCF-7	breast:
7	chr1:112493665..112496105-chr17:59477534..59480339,2	MCF-7	breast:
8	chr1:112494791..112496381-chr12:122231119..122232689,2	MCF-7	breast:
9	chr1:112494260..112496392-chr1:112516414..112519150,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267131	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17029299	1.00[MEX][hapmap]
rs3860208	1.00[TSI][hapmap]
rs593260	1.00[MEX][hapmap]
rs7514512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9429429	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112463400-112506600	Weak transcription	Aorta	Aorta
2	chr1:112473000-112510400	Weak transcription	Liver	Liver
3	chr1:112491800-112497000	Weak transcription	Fetal Heart	heart
4	chr1:112491800-112498400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:112491800-112500800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:112492000-112498000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:112492200-112498400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:112492200-112498400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:112492200-112499400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:112492200-112501000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:112492400-112503600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:112493600-112498400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:112494200-112496400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:112494800-112501200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:112495200-112496200	Weak transcription	Right Atrium	heart
16	chr1:112495400-112498400	Weak transcription	Right Ventricle	heart
17	chr1:112495400-112498400	Weak transcription	NHEK	skin
18	chr1:112495600-112498600	Weak transcription	Psoas Muscle	Psoas
19	chr1:112495800-112496600	Enhancers	Adipose Nuclei	Adipose
20	chr1:112495800-112500200	Enhancers	Left Ventricle	heart
21	chr1:112496000-112498200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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