Variant report

Variant	rs12719337
Chromosome Location	chr5:124885260-124885261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10037999	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10052574	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11949433	0.82[ASN][1000 genomes]
rs11949462	0.82[ASN][1000 genomes]
rs1457712	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17152887	0.82[ASN][1000 genomes]
rs17546986	0.82[ASN][1000 genomes]
rs2130846	0.82[ASN][1000 genomes]
rs28709614	0.83[ASN][1000 genomes]
rs34483581	0.82[ASN][1000 genomes]
rs6897062	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7709191	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124883200-124887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:124884200-124886200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:124884200-124886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:124884200-124886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:124884200-124895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:124884800-124885400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:124884800-124885400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:124884800-124885400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:124884800-124885600	Enhancers	Brain Anterior Caudate	brain
10	chr5:124884800-124885600	Enhancers	A549	lung
11	chr5:124884800-124886200	Enhancers	Stomach Mucosa	stomach
12	chr5:124884800-124886400	Enhancers	HMEC	breast
13	chr5:124884800-124886600	Enhancers	Brain Substantia Nigra	brain
14	chr5:124884800-124886800	Enhancers	Fetal Lung	lung
15	chr5:124884800-124887200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:124884800-124887200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:124884800-124887400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:124884800-124889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:124884800-124889000	Enhancers	NHLF	lung
20	chr5:124885000-124885400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:124885000-124885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:124885000-124885400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:124885000-124885400	Enhancers	Fetal Intestine Small	intestine
24	chr5:124885000-124885400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:124885000-124885400	Enhancers	Dnd41	blood
26	chr5:124885000-124885400	Enhancers	NHEK	skin
27	chr5:124885000-124885600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:124885000-124885600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:124885000-124885600	Enhancers	Colon Smooth Muscle	Colon
30	chr5:124885000-124885600	Enhancers	Fetal Heart	heart
31	chr5:124885000-124886200	Enhancers	Brain Angular Gyrus	brain
32	chr5:124885000-124886200	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:124885000-124886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:124885000-124886400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:124885000-124886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:124885000-124886400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:124885000-124886400	Enhancers	Brain Hippocampus Middle	brain
38	chr5:124885000-124886400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:124885000-124886400	Enhancers	Fetal Kidney	kidney
40	chr5:124885000-124886400	Enhancers	Hela-S3	cervix
41	chr5:124885000-124886400	Enhancers	HSMM	muscle
42	chr5:124885000-124886400	Enhancers	Osteobl	bone
43	chr5:124885000-124886600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:124885000-124886600	Enhancers	Brain Germinal Matrix	brain
45	chr5:124885000-124887200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:124885000-124887400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:124885000-124887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:124885200-124885400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:124885200-124885400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:124885200-124885400	Enhancers	Fetal Muscle Leg	muscle

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