Variant report

Variant	rs59607228
Chromosome Location	chr5:42875151-42875152
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42853973..42857038-chr5:42873699..42877054,3	K562	blood:
2	chr5:42871730..42873375-chr5:42874311..42877246,2	K562	blood:
3	chr5:42874819..42877698-chr5:42883856..42886524,3	K562	blood:
4	chr5:41903042..41905905-chr5:42874785..42876524,2	K562	blood:
5	chr5:42874757..42877271-chr5:42884816..42887879,3	K562	blood:

Variant related genes	Relation type
ENSG00000250722	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55857299	1.00[AMR][1000 genomes]
rs56319761	1.00[AFR][1000 genomes]
rs56362868	1.00[AFR][1000 genomes]
rs58492670	1.00[AFR][1000 genomes]
rs58607726	1.00[AFR][1000 genomes]
rs61045579	1.00[AFR][1000 genomes]
rs73751260	1.00[AFR][1000 genomes]
rs73751261	1.00[AFR][1000 genomes]
rs73751262	1.00[AFR][1000 genomes]
rs73751263	1.00[AFR][1000 genomes]
rs73751264	1.00[AFR][1000 genomes]
rs73751266	1.00[AFR][1000 genomes]
rs73751268	1.00[AFR][1000 genomes]
rs73751269	1.00[AFR][1000 genomes]
rs73751270	1.00[AFR][1000 genomes]
rs73751271	0.91[AFR][1000 genomes]
rs73751272	1.00[AFR][1000 genomes]
rs73751293	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73754510	0.80[AFR][1000 genomes]
rs73754521	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
4	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
6	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
10	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
11	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42872200-42875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:42872200-42875800	Weak transcription	Placenta	Placenta
3	chr5:42872200-42876000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:42872400-42875800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:42872600-42882200	Enhancers	Fetal Intestine Large	intestine
6	chr5:42872600-42882400	Enhancers	Fetal Intestine Small	intestine
7	chr5:42873000-42876000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:42873400-42875800	Weak transcription	Colonic Mucosa	Colon
9	chr5:42873400-42875800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:42873400-42876000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:42873400-42876600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:42873600-42875600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:42873800-42875800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:42873800-42876000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:42874200-42875600	Weak transcription	K562	blood
16	chr5:42874600-42875800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:42874600-42876600	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:42875000-42875200	Enhancers	Liver	Liver
19	chr5:42875000-42875400	Active TSS	HepG2	liver
20	chr5:42875000-42878600	Enhancers	Small Intestine	intestine

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