Variant report

Variant	rs16869067
Chromosome Location	chr5:90027487-90027488
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	chr5:90026342..90028789-chr5:90031725..90034231,3	K562	blood:
2	chr5:90026889..90029079-chr5:90034267..90036442,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16869083	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16869171	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2438336	1.00[AMR][1000 genomes]
rs2438341	1.00[AMR][1000 genomes]
rs2438354	1.00[AMR][1000 genomes]
rs2438358	1.00[AMR][1000 genomes]
rs2438381	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2443070	1.00[AMR][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	1.00[AMR][1000 genomes]
rs2460169	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2460170	1.00[AMR][1000 genomes]
rs2460172	1.00[AMR][1000 genomes]
rs3113635	1.00[AMR][1000 genomes]
rs6890981	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:90010600-90035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90019400-90029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90019800-90043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:90020000-90033600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:90020200-90028200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:90020400-90030200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:90020400-90034000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:90021200-90027600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr5:90021200-90027600	Strong transcription	K562	blood
11	chr5:90021200-90029400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:90022000-90029800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:90022400-90074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:90023200-90027600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr5:90024200-90034400	Weak transcription	Brain Anterior Caudate	brain
16	chr5:90024800-90044000	Weak transcription	Brain Germinal Matrix	brain
17	chr5:90025000-90035600	Weak transcription	Pancreas	Pancrea
18	chr5:90025000-90043000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:90025800-90027600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:90026400-90027600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:90026400-90027600	Strong transcription	Fetal Brain Female	brain
22	chr5:90026800-90031400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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