Variant report

Variant	rs1993866
Chromosome Location	chr15:54210353-54210354
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54194862..54196938-chr15:54208486..54210997,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1382214	0.93[AFR][1000 genomes]
rs1382219	1.00[AFR][1000 genomes]
rs1382224	0.85[AFR][1000 genomes]
rs1478181	0.93[AFR][1000 genomes]
rs2019428	1.00[AFR][1000 genomes]
rs2711587	0.85[AFR][1000 genomes]
rs2725559	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv949528	chr15:54041154-54281981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv904227	chr15:54162882-54210677	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv904228	chr15:54169638-54210677	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54208400-54210800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr15:54208400-54211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr15:54208600-54210800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr15:54208600-54210800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:54208600-54210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:54209200-54210800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:54209400-54211800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:54209600-54210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:54209600-54211400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:54209800-54210800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:54209800-54211000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:54209800-54211000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr15:54209800-54211000	Enhancers	A549	lung
14	chr15:54209800-54211200	Enhancers	Fetal Lung	lung
15	chr15:54210000-54210400	Enhancers	HepG2	liver
16	chr15:54210200-54210600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:54210200-54210600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr15:54210200-54210600	Active TSS	Brain Anterior Caudate	brain
19	chr15:54210200-54210600	Active TSS	Fetal Brain Female	brain
20	chr15:54210200-54210800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:54210200-54211800	Enhancers	Fetal Kidney	kidney

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