Variant report

Variant	rs2127280
Chromosome Location	chr15:73477947-73477948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34160980	0.83[ASN][1000 genomes]
rs3743490	0.85[ASN][1000 genomes]
rs72741417	0.83[ASN][1000 genomes]
rs9672586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73454600-73483000	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:73455200-73500400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:73458600-73478000	Weak transcription	Colonic Mucosa	Colon
5	chr15:73459000-73482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:73466800-73482000	Weak transcription	Psoas Muscle	Psoas
7	chr15:73468600-73481200	Weak transcription	Lung	lung
8	chr15:73470800-73481600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:73471400-73478600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:73472000-73488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:73472000-73496800	Weak transcription	Ovary	ovary
12	chr15:73472200-73504600	Weak transcription	Left Ventricle	heart
13	chr15:73473400-73496400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:73474200-73478200	Strong transcription	Fetal Intestine Large	intestine
15	chr15:73474200-73479600	Weak transcription	Fetal Kidney	kidney
16	chr15:73474200-73482400	Weak transcription	Gastric	stomach
17	chr15:73474200-73482600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:73474200-73487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:73474200-73488800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:73474200-73498200	Weak transcription	Liver	Liver
21	chr15:73474200-73523800	Weak transcription	Esophagus	oesophagus
22	chr15:73474400-73478000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:73474400-73481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:73474600-73478200	Strong transcription	Fetal Lung	lung
25	chr15:73474600-73488000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:73474600-73500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:73474800-73478200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:73475200-73486800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:73475200-73517600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:73475400-73495600	Weak transcription	Brain Anterior Caudate	brain
31	chr15:73475800-73478800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:73475800-73481200	Weak transcription	Aorta	Aorta
33	chr15:73475800-73492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:73476000-73479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:73476000-73479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:73476000-73480600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:73476000-73482600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:73476000-73487800	Weak transcription	Pancreas	Pancrea
39	chr15:73476000-73492000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:73476000-73493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:73476000-73494800	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:73476200-73478000	Weak transcription	A549	lung
43	chr15:73476200-73487800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:73476200-73493800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:73476200-73495000	Weak transcription	Brain Substantia Nigra	brain
46	chr15:73476200-73506200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:73476400-73478400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:73476400-73486800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:73477200-73479200	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:73477200-73492800	Weak transcription	Fetal Stomach	stomach

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