Variant report

Variant	rs2127278
Chromosome Location	chr15:73486316-73486317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16957727	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3784793	0.91[CHB][hapmap]
rs3784794	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3817374	0.87[AMR][1000 genomes]
rs9972555	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73455200-73500400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:73472000-73488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:73472000-73496800	Weak transcription	Ovary	ovary
4	chr15:73472200-73504600	Weak transcription	Left Ventricle	heart
5	chr15:73473400-73496400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:73474200-73487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:73474200-73488800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:73474200-73498200	Weak transcription	Liver	Liver
9	chr15:73474200-73523800	Weak transcription	Esophagus	oesophagus
10	chr15:73474600-73488000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:73474600-73500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:73475200-73486800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:73475200-73517600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:73475400-73495600	Weak transcription	Brain Anterior Caudate	brain
15	chr15:73475800-73492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:73476000-73487800	Weak transcription	Pancreas	Pancrea
17	chr15:73476000-73492000	Weak transcription	Fetal Intestine Small	intestine
18	chr15:73476000-73493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:73476000-73494800	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:73476200-73487800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:73476200-73493800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:73476200-73495000	Weak transcription	Brain Substantia Nigra	brain
23	chr15:73476200-73506200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:73476400-73486800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:73477200-73492800	Weak transcription	Fetal Stomach	stomach
26	chr15:73477200-73497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:73477600-73492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:73477600-73503800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:73477800-73489000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:73477800-73491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:73477800-73499200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:73478000-73491800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:73478200-73488600	Weak transcription	Fetal Lung	lung
34	chr15:73478400-73491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:73478600-73491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:73482000-73492600	Weak transcription	Fetal Intestine Large	intestine
37	chr15:73482000-73504600	Weak transcription	Aorta	Aorta
38	chr15:73483000-73487400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:73483000-73493800	Weak transcription	Adipose Nuclei	Adipose
40	chr15:73483400-73489000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:73483600-73505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:73483800-73494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:73485800-73486800	Enhancers	Fetal Brain Female	brain
44	chr15:73485800-73487400	Enhancers	Fetal Brain Male	brain
45	chr15:73485800-73488800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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