Variant report

Variant	rs16868217
Chromosome Location	chr5:89427506-89427507
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	chr5:89421664..89423679-chr5:89426174..89427694,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11955350	1.00[ASN][1000 genomes]
rs11955480	1.00[ASN][1000 genomes]
rs11956545	0.96[ASN][1000 genomes]
rs16868224	1.00[ASN][1000 genomes]
rs6883631	1.00[ASN][1000 genomes]
rs73772608	0.96[ASN][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	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89426600-89427600	Enhancers	Fetal Brain Male	brain
2	chr5:89426800-89427800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:89426800-89427800	Enhancers	Fetal Brain Female	brain
4	chr5:89426800-89428000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:89426800-89428000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:89426800-89428000	Enhancers	Colon Smooth Muscle	Colon
7	chr5:89426800-89429000	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:89427000-89428200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:89427000-89428600	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:89427200-89427600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:89427200-89427600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:89427200-89427800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:89427200-89427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:89427200-89427800	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:89427200-89427800	Enhancers	HSMMtube	muscle
16	chr5:89427200-89428000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:89427200-89428000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:89427200-89428000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:89427200-89428200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:89427400-89427600	Enhancers	Primary B cells from cord blood	blood
21	chr5:89427400-89428000	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:89427400-89428000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:89427400-89428400	Flanking Active TSS	GM12878-XiMat	blood

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