Variant report

Variant	rs7514018
Chromosome Location	chr1:112509100-112509101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112507742..112510159-chr1:112525454..112528301,2	MCF-7	breast:
2	chr1:112497068..112503800-chr1:112504235..112512063,11	MCF-7	breast:
3	chr1:112508154..112509860-chr1:112515408..112518035,2	MCF-7	breast:
4	chr1:112506646..112509352-chr17:57056182..57058159,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11800123	1.00[AMR][1000 genomes]
rs58420091	1.00[AMR][1000 genomes]
rs60522190	1.00[AMR][1000 genomes]
rs74109791	1.00[AMR][1000 genomes]
rs74109798	1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112473000-112510400	Weak transcription	Liver	Liver
2	chr1:112501600-112514600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:112504600-112510000	Weak transcription	Spleen	Spleen
4	chr1:112506600-112509200	Enhancers	Right Ventricle	heart
5	chr1:112506600-112512600	Enhancers	Right Atrium	heart
6	chr1:112506600-112514200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:112507000-112510000	Weak transcription	Esophagus	oesophagus
8	chr1:112507000-112510000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:112507000-112510200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:112507000-112511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:112507000-112516600	Weak transcription	Aorta	Aorta
12	chr1:112507000-112523800	Weak transcription	Fetal Brain Female	brain
13	chr1:112507200-112510200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:112507200-112510600	Weak transcription	Fetal Brain Male	brain
15	chr1:112507400-112518400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:112507400-112519200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:112507400-112524200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:112507800-112510000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:112507800-112513000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:112507800-112524000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:112508000-112509800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:112508000-112510600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:112508200-112509200	Enhancers	Psoas Muscle	Psoas
24	chr1:112508400-112511600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:112508600-112529400	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:112508800-112510000	Weak transcription	Left Ventricle	heart
27	chr1:112509000-112513400	Enhancers	Brain Germinal Matrix	brain

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