Variant report

Variant	rs2443087
Chromosome Location	chr5:90162124-90162125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90153756..90156660-chr5:90161187..90163810,2	K562	blood:
2	chr5:90161853..90166366-chr5:90170217..90173249,4	K562	blood:
3	chr5:90162060..90162924-chr5:90397242..90398132,3	MCF-7	breast:
4	chr5:90161833..90162998-chr5:90714590..90715869,4	K562	blood:
5	chr5:90160869..90165602-chr5:90675521..90682094,8	K562	blood:
6	chr5:90161808..90162821-chr5:90680412..90681352,6	K562	blood:
7	chr5:90158577..90166779-chr5:90674301..90681062,16	MCF-7	breast:
8	chr5:90161908..90162738-chr5:90680698..90681301,5	MCF-7	breast:
9	chr5:90159385..90163869-chr5:90675528..90680815,7	MCF-7	breast:
10	chr5:90161212..90166184-chr5:90674566..90680439,9	K562	blood:
11	chr5:90161853..90164383-chr5:90169834..90171717,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11738573	0.87[EUR][1000 genomes]
rs11743775	0.82[EUR][1000 genomes]
rs11744325	0.85[EUR][1000 genomes]
rs2438348	0.84[EUR][1000 genomes]
rs35871344	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
2	chr5:90142600-90162400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:90148200-90171400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90148400-90164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:90151600-90162400	Weak transcription	K562	blood
6	chr5:90151800-90174000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:90151800-90174600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:90152000-90165000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:90158200-90162400	Weak transcription	Brain Anterior Caudate	brain
10	chr5:90159600-90164600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:90159800-90162200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:90159800-90162400	Weak transcription	Stomach Mucosa	stomach
13	chr5:90159800-90164800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:90160400-90162400	Enhancers	Liver	Liver
15	chr5:90160400-90164000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:90160600-90163200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:90160800-90163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:90161600-90162400	Enhancers	Brain Germinal Matrix	brain
19	chr5:90161600-90162600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:90161800-90163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:90162000-90162200	Enhancers	Fetal Brain Male	brain

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