Variant report

Variant	rs2127898
Chromosome Location	chr15:79083120-79083121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12438008	0.81[ASN][1000 genomes]
rs2277547	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2869862	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3743058	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
4	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:79072800-79089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
8	chr15:79076400-79090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:79076400-79090400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:79077200-79084800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:79077200-79085200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:79077200-79089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:79077400-79089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:79077600-79084200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:79077600-79087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:79077800-79090600	Strong transcription	Brain Germinal Matrix	brain
19	chr15:79078000-79083400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr15:79078000-79084000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:79078000-79084200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:79078000-79089400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
24	chr15:79078400-79085000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:79078400-79091800	Weak transcription	Gastric	stomach
26	chr15:79078600-79083600	Strong transcription	Ovary	ovary
27	chr15:79078600-79084000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:79078600-79084000	Strong transcription	Adipose Nuclei	Adipose
29	chr15:79078600-79084600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:79078600-79084800	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:79078600-79085000	Strong transcription	HSMMtube	muscle
32	chr15:79078600-79089800	Weak transcription	HMEC	breast
33	chr15:79078600-79090600	Strong transcription	Fetal Brain Female	brain
34	chr15:79079000-79089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel
36	chr15:79079600-79090600	Weak transcription	NH-A	brain
37	chr15:79080000-79083800	Strong transcription	Aorta	Aorta
38	chr15:79080200-79083600	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr15:79080200-79084800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:79080600-79083400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr15:79080600-79087400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:79080600-79087400	Weak transcription	Osteobl	bone
44	chr15:79080800-79084400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:79080800-79089400	Weak transcription	NHLF	lung
46	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
47	chr15:79081000-79088600	Weak transcription	Placenta	Placenta
48	chr15:79081200-79083800	Strong transcription	HSMM	muscle
49	chr15:79081400-79084400	Weak transcription	Fetal Lung	lung
50	chr15:79081600-79084000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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