Variant report

Variant	rs331073
Chromosome Location	chr5:127722810-127722811
allele	G/T
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:8)

rs_ID	r²[population]
rs153995	0.82[EUR][1000 genomes]
rs255691	0.82[EUR][1000 genomes]
rs331071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331072	0.92[ASN][1000 genomes]
rs331091	0.90[ASN][1000 genomes]
rs331094	0.84[ASN][1000 genomes]
rs331096	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs331099	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
4	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:127686000-127742000	Weak transcription	A549	lung
7	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
10	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:127705000-127724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:127705000-127730200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:127705200-127724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:127705800-127731200	Weak transcription	Left Ventricle	heart
15	chr5:127710600-127724200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:127711200-127724800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:127711200-127724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:127712800-127723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:127712800-127725000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:127713200-127724800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:127713200-127725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:127713200-127727600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:127713600-127724800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:127714200-127724000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:127714600-127743000	Weak transcription	HMEC	breast
26	chr5:127715800-127724800	Weak transcription	Fetal Stomach	stomach
27	chr5:127716000-127724400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:127716000-127724600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:127716400-127725000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:127716600-127723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
32	chr5:127720000-127739000	Weak transcription	NHEK	skin
33	chr5:127720200-127725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:127720400-127724800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:127720400-127729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:127720800-127725600	Strong transcription	Placenta	Placenta
37	chr5:127722400-127724000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:127722400-127724000	Weak transcription	Fetal Heart	heart
39	chr5:127722800-127728000	Weak transcription	NH-A	brain

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