Variant report

Variant	rs168860
Chromosome Location	chr5:127635514-127635515
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs255693	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255731	0.92[EUR][1000 genomes]
rs26023	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27855	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
3	chr5:127614600-127644800	Weak transcription	Ovary	ovary
4	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
5	chr5:127620200-127639600	Weak transcription	Osteobl	bone
6	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:127624600-127663600	Weak transcription	A549	lung
8	chr5:127624800-127644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:127624800-127648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:127625000-127635800	Weak transcription	Fetal Lung	lung
11	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:127625800-127635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
14	chr5:127626200-127635600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:127626200-127635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:127626200-127636000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:127626200-127638000	Weak transcription	NH-A	brain
18	chr5:127626200-127640400	Weak transcription	Left Ventricle	heart
19	chr5:127626400-127635600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:127626400-127639000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:127626400-127639000	Weak transcription	NHEK	skin
22	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:127627800-127635800	Weak transcription	HMEC	breast
24	chr5:127628400-127635800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:127628600-127639600	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:127628800-127635800	Weak transcription	Fetal Heart	heart
27	chr5:127628800-127636200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:127628800-127636400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:127629400-127635600	Weak transcription	Placenta	Placenta
30	chr5:127633600-127637400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:127634400-127656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:127634600-127639200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:127635000-127635600	Strong transcription	Fetal Stomach	stomach
34	chr5:127635000-127636200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:127635000-127636800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:127635000-127638400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:127635000-127641800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:127635200-127635800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr5:127635200-127635800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:127635200-127636200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr5:127635200-127636800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:127635200-127636800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:127635200-127636800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:127635200-127637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:127635200-127639600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:127635200-127646600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:127635400-127635600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:127635400-127636400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:127635400-127636800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:127635400-127637000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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