Variant report

Variant	rs7514512
Chromosome Location	chr1:112497170-112497171
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112467188..112471367-chr1:112497017..112499911,3	MCF-7	breast:
2	chr1:112495787..112497685-chr17:59489399..59490949,2	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	chr1:112494978..112497491-chr1:112517634..112519393,2	MCF-7	breast:
6	chr1:112496709..112499673-chr17:59486931..59488454,2	MCF-7	breast:
7	chr1:112497057..112500018-chr1:112513084..112516199,3	MCF-7	breast:
8	chr1:112497068..112503800-chr1:112504235..112512063,11	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3008537	0.94[YRI][hapmap];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:19 , 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	chr1:112491800-112498400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:112491800-112500800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:112492000-112498000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:112492200-112498400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:112492200-112498400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:112492200-112499400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:112492200-112501000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:112492400-112503600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:112493600-112498400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:112494800-112501200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:112495400-112498400	Weak transcription	Right Ventricle	heart
14	chr1:112495400-112498400	Weak transcription	NHEK	skin
15	chr1:112495600-112498600	Weak transcription	Psoas Muscle	Psoas
16	chr1:112495800-112500200	Enhancers	Left Ventricle	heart
17	chr1:112496000-112498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:112496200-112499000	Enhancers	Right Atrium	heart
19	chr1:112497000-112497600	Enhancers	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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