Variant report

Variant	rs391235
Chromosome Location	chr20:52841445-52841446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52840058..52843007-chr20:53284448..53286480,2	MCF-7	breast:
2	chr20:52839394..52842266-chr3:64681661..64683712,2	MCF-7	breast:
3	chr20:52840503..52842605-chr6:20208710..20211532,2	MCF-7	breast:
4	chr20:52840265..52842144-chr20:52866787..52869345,2	MCF-7	breast:
5	chr20:52835744..52843522-chr20:52881395..52889377,15	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1418925	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2585417	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2585418	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292113	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs292118	0.83[ASN][1000 genomes]
rs292119	0.83[ASN][1000 genomes]
rs3479	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs368933	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs422066	0.85[EUR][1000 genomes]
rs422257	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441506	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs51301	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6013925	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6013938	0.89[ASN][1000 genomes]
rs6091837	0.96[ASN][1000 genomes]
rs6123368	0.84[ASN][1000 genomes]
rs6127138	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52829400-52847400	Weak transcription	Aorta	Aorta
2	chr20:52829600-52847600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr20:52831400-52842200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:52833000-52845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:52834200-52843600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr20:52834600-52843600	Weak transcription	GM12878-XiMat	blood
7	chr20:52834600-52845200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:52834600-52845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr20:52834600-52845200	Weak transcription	NHEK	skin
10	chr20:52835600-52845800	Weak transcription	HSMM	muscle
11	chr20:52835600-52846000	Weak transcription	HSMMtube	muscle
12	chr20:52837400-52842200	Weak transcription	Dnd41	blood
13	chr20:52838600-52846000	Weak transcription	Fetal Muscle Leg	muscle
14	chr20:52839200-52842200	Weak transcription	HepG2	liver
15	chr20:52839200-52843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:52839400-52841600	Weak transcription	Fetal Stomach	stomach
17	chr20:52839600-52845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr20:52840600-52849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:52840800-52849000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr20:52841000-52851000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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