Variant report

Variant	rs2443070
Chromosome Location	chr5:90089612-90089613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90087371..90091009-chr5:90095949..90098739,3	K562	blood:
2	chr5:90088753..90091420-chr5:90094556..90098739,3	K562	blood:
3	chr5:89769110..89772331-chr5:90086907..90091587,4	K562	blood:
4	chr5:90079294..90080237-chr5:90089325..90090028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11950742	1.00[EUR][1000 genomes]
rs11959781	1.00[EUR][1000 genomes]
rs16869067	1.00[AMR][1000 genomes]
rs16869083	1.00[AMR][1000 genomes]
rs16869154	1.00[EUR][1000 genomes]
rs16869171	1.00[AMR][1000 genomes]
rs2438336	1.00[AMR][1000 genomes]
rs2438341	1.00[AMR][1000 genomes]
rs2438354	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2438358	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2438381	1.00[AMR][1000 genomes]
rs2443062	1.00[EUR][1000 genomes]
rs2443074	1.00[AMR][1000 genomes]
rs2443075	1.00[AMR][1000 genomes]
rs2443088	1.00[AMR][1000 genomes]
rs2443090	1.00[AMR][1000 genomes]
rs2460168	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460169	1.00[AMR][1000 genomes]
rs2460170	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28757668	1.00[EUR][1000 genomes]
rs3113635	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6860302	1.00[EUR][1000 genomes]
rs6872705	1.00[EUR][1000 genomes]
rs6880683	1.00[EUR][1000 genomes]
rs6890981	1.00[AMR][1000 genomes]
rs7717221	1.00[EUR][1000 genomes]
rs7729495	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv1031718	chr5:89999033-90099868	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	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
10	nsv968840	chr5:90089029-90097179	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90051800-90105000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:90061200-90090800	Weak transcription	Brain Anterior Caudate	brain
3	chr5:90066200-90089800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90078400-90089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:90082200-90089800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:90082200-90090000	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr5:90082600-90090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:90082800-90090600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:90083600-90090400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:90085200-90090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:90085200-90090400	Weak transcription	Pancreas	Pancrea
12	chr5:90086200-90090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:90086200-90090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:90086200-90092200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:90086600-90090600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:90086600-90091800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:90086800-90089800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:90086800-90090400	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr5:90087000-90090200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:90087000-90091800	Strong transcription	Fetal Brain Female	brain
21	chr5:90087400-90090800	ZNF genes & repeats	K562	blood
22	chr5:90088600-90092200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr5:90089000-90090600	Weak transcription	Brain Germinal Matrix	brain
24	chr5:90089200-90091800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr5:90089200-90092400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr5:90089400-90090400	Strong transcription	Fetal Brain Male	brain
27	chr5:90089400-90092000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:90089600-90090600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:90089600-90091000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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