Variant report

Variant	rs62270312
Chromosome Location	chr3:134649725-134649726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13316480	1.00[ASN][1000 genomes]
rs16842308	1.00[ASN][1000 genomes]
rs28718846	1.00[ASN][1000 genomes]
rs4429672	1.00[ASN][1000 genomes]
rs58193970	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195225	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61413999	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270314	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270315	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270317	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270318	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270321	1.00[ASN][1000 genomes]
rs62270322	1.00[ASN][1000 genomes]
rs62273061	1.00[ASN][1000 genomes]
rs66569551	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6764013	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214171	1.00[ASN][1000 genomes]
rs73214194	1.00[ASN][1000 genomes]
rs73218226	1.00[ASN][1000 genomes]
rs7614716	1.00[ASN][1000 genomes]
rs7636773	1.00[ASN][1000 genomes]
rs983401	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9848835	1.00[ASN][1000 genomes]
rs9849294	1.00[ASN][1000 genomes]
rs9859830	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134639400-134653800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:134641600-134650400	Weak transcription	Fetal Brain Male	brain
3	chr3:134641800-134649800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:134642400-134653800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:134644200-134654800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:134644600-134656400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:134647800-134650400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:134648600-134650200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:134649000-134656200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:134649000-134656200	Weak transcription	Fetal Stomach	stomach
11	chr3:134649200-134650600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:134649200-134650600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:134649200-134650800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:134649200-134651600	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:134649200-134652400	Enhancers	Colon Smooth Muscle	Colon
16	chr3:134649400-134649800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:134649400-134649800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr3:134649400-134650200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:134649400-134650600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:134649400-134650600	Enhancers	GM12878-XiMat	blood
21	chr3:134649400-134650800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr3:134649600-134649800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr3:134649600-134650000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:134649600-134650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:134649600-134651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:134649600-134651200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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