Variant report

Variant	rs16868998
Chromosome Location	chr5:89993343-89993344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89992042..89994832-chr5:90000512..90002853,3	K562	blood:
2	chr5:89992042..89994832-chr5:90000512..90002853,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16868773	1.00[EUR][1000 genomes]
rs16868780	1.00[EUR][1000 genomes]
rs16868793	1.00[EUR][1000 genomes]
rs16868831	1.00[EUR][1000 genomes]
rs16868887	1.00[EUR][1000 genomes]
rs16868956	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16869002	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16869055	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16869104	1.00[EUR][1000 genomes]
rs16869220	1.00[EUR][1000 genomes]
rs16869223	1.00[EUR][1000 genomes]
rs6452889	1.00[EUR][1000 genomes]
rs7721819	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	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
6	nsv1032225	chr5:89940489-89999954	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1025391	chr5:89943364-89995164	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv537805	chr5:89943364-89995164	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv882368	chr5:89990324-90012379	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 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	chr5:89936800-89994200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:89964400-89993400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:89964600-89994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:89965000-89993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:89979200-90002600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:89982000-90004600	Weak transcription	Fetal Brain Female	brain
8	chr5:89985000-89994600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:89986800-89994200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:89987000-90001200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:89987800-90007200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:89990400-89995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:89990600-90001200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:89991200-90001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:89992400-89994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:89992400-89994800	Strong transcription	K562	blood
18	chr5:89992400-89995600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:89992400-89999800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:89992800-89993600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:89993000-89995400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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