Variant report

Variant	rs72822886
Chromosome Location	chr5:177844114-177844115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177841800..177844284-chr5:177969427..177971380,2	K562	blood:
2	chr5:177764211..177766744-chr5:177842337..177844246,2	MCF-7	breast:
3	chr5:177843982..177846399-chr5:177848195..177849989,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11249802	1.00[ASN][1000 genomes]
rs11249803	1.00[ASN][1000 genomes]
rs2546641	1.00[ASN][1000 genomes]
rs2647700	1.00[ASN][1000 genomes]
rs2647701	1.00[ASN][1000 genomes]
rs2647704	1.00[ASN][1000 genomes]
rs2672828	1.00[ASN][1000 genomes]
rs2672829	1.00[ASN][1000 genomes]
rs2672833	1.00[ASN][1000 genomes]
rs2672842	1.00[ASN][1000 genomes]
rs4280893	1.00[ASN][1000 genomes]
rs622432	1.00[ASN][1000 genomes]
rs6874551	1.00[ASN][1000 genomes]
rs6887137	1.00[ASN][1000 genomes]
rs72810641	1.00[ASN][1000 genomes]
rs72822840	1.00[ASN][1000 genomes]
rs72822856	1.00[ASN][1000 genomes]
rs72822884	1.00[ASN][1000 genomes]
rs72822887	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177838800-177844200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:177840000-177855000	Weak transcription	Right Atrium	heart
3	chr5:177841200-177844200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:177841200-177845600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:177841200-177846000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:177841200-177854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:177841800-177844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:177842400-177848000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:177843400-177844400	Genic enhancers	Fetal Thymus	thymus
10	chr5:177843800-177844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:177843800-177844200	Weak transcription	Thymus	Thymus
12	chr5:177843800-177844400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:177843800-177844400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:177843800-177844600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:177843800-177844600	Enhancers	NHDF-Ad	bronchial
16	chr5:177843800-177844800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:177843800-177845000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:177843800-177845200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:177843800-177846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:177843800-177846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:177844000-177844800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:177844000-177845200	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:177844000-177845200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:177844000-177846600	Enhancers	Gastric	stomach
25	chr5:177844000-177849800	Enhancers	Cortex derived primary cultured neurospheres	brain

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