Variant report

Variant	rs1621710
Chromosome Location	chr12:48386060-48386061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48373823..48376376-chr12:48383731..48387007,3	MCF-7	breast:
2	chr12:48384703..48387276-chr12:48389834..48391406,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11168337	0.87[EUR][1000 genomes]
rs1635534	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1635535	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1635536	0.92[ASN][1000 genomes]
rs1635537	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1635544	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1635546	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635547	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635553	0.83[EUR][1000 genomes]
rs1793911	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793912	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1793913	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1793915	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1793917	0.92[ASN][1000 genomes]
rs1793923	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793924	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829734	0.80[ASN][1000 genomes]
rs3829736	0.87[EUR][1000 genomes]
rs740024	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs917055	0.92[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:48381400-48386400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:48381400-48386800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48381400-48388800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:48383000-48388400	Weak transcription	Psoas Muscle	Psoas
7	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48384200-48387600	Enhancers	Fetal Lung	lung
10	chr12:48384400-48386200	Enhancers	Fetal Brain Female	brain
11	chr12:48384400-48386400	Enhancers	Fetal Brain Male	brain
12	chr12:48384400-48386600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr12:48384600-48386400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:48384600-48386400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:48384800-48386200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:48384800-48386200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:48385200-48391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:48385400-48386200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48385400-48386400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr12:48385600-48389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:48385600-48389600	Weak transcription	Right Atrium	heart
22	chr12:48385800-48387400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:48385800-48387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:48385800-48389600	Weak transcription	Left Ventricle	heart
25	chr12:48385800-48389600	Weak transcription	Lung	lung
26	chr12:48386000-48389600	Weak transcription	Right Ventricle	heart

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