Variant report

Variant	rs62272389
Chromosome Location	chr3:134516908-134516909
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:7)

rs_ID	r²[population]
rs11924725	0.84[ASN][1000 genomes]
rs11928724	0.84[ASN][1000 genomes]
rs1374812	0.82[ASN][1000 genomes]
rs57941453	0.96[EUR][1000 genomes]
rs62272388	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439520	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6762299	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134514800-134517000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr3:134515200-134517000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134515600-134517000	Flanking Active TSS	Fetal Brain Male	brain
4	chr3:134515800-134518400	Weak transcription	Aorta	Aorta
5	chr3:134515800-134523600	Weak transcription	Pancreas	Pancrea
6	chr3:134516000-134517200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:134516000-134517200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134516000-134517600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr3:134516000-134518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:134516200-134517000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:134516200-134517000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr3:134516200-134517200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:134516400-134517200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:134516400-134517200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:134516400-134517200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:134516400-134517600	Active TSS	GM12878-XiMat	blood
17	chr3:134516400-134518600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:134516400-134519400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr3:134516600-134517000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:134516600-134517000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr3:134516600-134517000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:134516600-134517000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr3:134516600-134517000	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr3:134516600-134517000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:134516600-134517000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr3:134516600-134517000	Active TSS	Rectal Smooth Muscle	rectum
27	chr3:134516600-134517000	Bivalent Enhancer	HUVEC	blood vessel
28	chr3:134516600-134517200	Active TSS	Brain Anterior Caudate	brain
29	chr3:134516600-134517200	Bivalent Enhancer	Brain Hippocampus Middle	brain
30	chr3:134516600-134517400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:134516600-134517600	Weak transcription	Psoas Muscle	Psoas
32	chr3:134516600-134518000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:134516800-134517000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr3:134516800-134517000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr3:134516800-134517000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr3:134516800-134517000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:134516800-134517200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr3:134516800-134517200	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:134516800-134517400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:134516800-134517600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr3:134516800-134517800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr3:134516800-134517800	Flanking Active TSS	Fetal Brain Female	brain
43	chr3:134516800-134520400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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