Variant report

Variant	rs66569551
Chromosome Location	chr3:134650128-134650129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13316480	0.87[AFR][1000 genomes]
rs16842308	0.93[AFR][1000 genomes]
rs28718846	0.87[AFR][1000 genomes]
rs58193970	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58195225	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61413999	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62270312	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62270314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62270315	1.00[EUR][1000 genomes]
rs62270317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62270318	0.98[EUR][1000 genomes]
rs62270321	0.93[AFR][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:30 , 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	chr3:134642400-134653800	Weak transcription	Brain Germinal Matrix	brain
4	chr3:134644200-134654800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:134644600-134656400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:134647800-134650400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:134648600-134650200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:134649000-134656200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:134649000-134656200	Weak transcription	Fetal Stomach	stomach
10	chr3:134649200-134650600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:134649200-134650600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:134649200-134650800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:134649200-134651600	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:134649200-134652400	Enhancers	Colon Smooth Muscle	Colon
15	chr3:134649400-134650200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:134649400-134650600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:134649400-134650600	Enhancers	GM12878-XiMat	blood
18	chr3:134649400-134650800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr3:134649600-134650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:134649600-134651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:134649600-134651200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:134649800-134650200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:134649800-134650200	Enhancers	Brain Anterior Caudate	brain
24	chr3:134649800-134650400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr3:134649800-134650600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:134649800-134653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:134650000-134650400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:134650000-134650400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:134650000-134650600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:134650000-134651800	Enhancers	HUES48 Cell Line	embryonic stem cell

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