Variant report

Variant	rs7180485
Chromosome Location	chr15:92171722-92171723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92170639..92173345-chr15:92176759..92179655,2	K562	blood:
2	chr15:92164034..92165548-chr15:92170234..92172069,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28426377	1.00[EUR][1000 genomes]
rs28567823	0.85[EUR][1000 genomes]
rs56717410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57078344	0.85[EUR][1000 genomes]
rs66712469	1.00[EUR][1000 genomes]
rs7181244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72759992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1041524	chr15:92135348-92181419	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1047081	chr15:92151161-92191339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92168800-92172000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr15:92168800-92172200	Enhancers	Fetal Lung	lung
3	chr15:92169400-92172800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:92169600-92172000	Enhancers	Fetal Stomach	stomach
5	chr15:92170000-92172000	Enhancers	Rectal Smooth Muscle	rectum
6	chr15:92170000-92172000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr15:92170000-92172200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:92170000-92172200	Enhancers	Colon Smooth Muscle	Colon
9	chr15:92170200-92171800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr15:92170200-92172000	Enhancers	Fetal Heart	heart
11	chr15:92170200-92172200	Enhancers	Left Ventricle	heart
12	chr15:92170400-92171800	Enhancers	Fetal Brain Male	brain
13	chr15:92170400-92171800	Enhancers	Fetal Brain Female	brain
14	chr15:92170400-92172000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:92170400-92172000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:92170600-92171800	Enhancers	Brain Germinal Matrix	brain
17	chr15:92170600-92171800	Enhancers	Brain Hippocampus Middle	brain
18	chr15:92170800-92171800	Enhancers	Brain Substantia Nigra	brain
19	chr15:92171000-92172000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:92171200-92171800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr15:92171200-92172000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr15:92171200-92172000	Weak transcription	Pancreas	Pancrea
23	chr15:92171400-92177400	Weak transcription	Liver	Liver
24	chr15:92171600-92172800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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