Variant report

Variant	rs2443080
Chromosome Location	chr5:90111700-90111701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90105553..90108677-chr5:90109621..90112137,3	MCF-7	breast:
2	chr5:90106148..90108650-chr5:90109750..90111841,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2438376	1.00[YRI][hapmap]
rs2438378	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2438381	1.00[ASW][hapmap]
rs2438382	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2438383	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2443081	1.00[AMR][1000 genomes]
rs2443083	1.00[AMR][1000 genomes]
rs2460169	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934323	chr5:89968158-90111853	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90092400-90122200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:90099000-90112200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:90100600-90119200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:90102200-90113600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:90103000-90140800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:90103600-90112200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:90104600-90142000	Weak transcription	Brain Anterior Caudate	brain
8	chr5:90106000-90117800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:90106800-90128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:90109800-90112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:90110200-90149600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:90110600-90112000	Strong transcription	K562	blood
13	chr5:90111200-90112000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:90111400-90112000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:90111400-90112000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr5:90111400-90112000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:90111400-90112200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:90111400-90112200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:90111400-90112200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:90111400-90112200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr5:90111600-90112000	Strong transcription	Fetal Brain Female	brain
22	chr5:90111600-90112200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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