Variant report

Variant	rs56239340
Chromosome Location	chr17:45880605-45880606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45878350..45884136-chr17:45884210..45889440,8	MCF-7	breast:
2	chr17:45775756..45776817-chr17:45879865..45880743,4	MCF-7	breast:
3	chr17:45873457..45875423-chr17:45878483..45880653,2	MCF-7	breast:
4	chr17:45878983..45881088-chr17:45892688..45895299,2	MCF-7	breast:
5	chr17:45607964..45609821-chr17:45879797..45882699,2	MCF-7	breast:
6	chr17:45880269..45882880-chr17:45892530..45895497,2	MCF-7	breast:
7	chr17:45878851..45881685-chr17:45882188..45884367,2	K562	blood:
8	chr17:45774681..45778561-chr17:45877858..45880734,4	MCF-7	breast:
9	chr17:45879322..45881214-chr17:45906972..45909771,2	K562	blood:
10	chr17:45878553..45881170-chr17:45895668..45898386,2	MCF-7	breast:
11	chr17:45880063..45883008-chr17:45885537..45887913,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000159111	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000006025	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57483258	1.00[EUR][1000 genomes]
rs7225277	1.00[EUR][1000 genomes]
rs73319718	1.00[EUR][1000 genomes]
rs73985186	1.00[EUR][1000 genomes]
rs73985189	1.00[EUR][1000 genomes]
rs73988809	1.00[EUR][1000 genomes]
rs73988811	1.00[EUR][1000 genomes]
rs73988823	1.00[EUR][1000 genomes]
rs73988830	1.00[EUR][1000 genomes]
rs73988840	1.00[EUR][1000 genomes]
rs73988847	1.00[EUR][1000 genomes]
rs73988853	1.00[EUR][1000 genomes]
rs8066161	1.00[EUR][1000 genomes]
rs8075483	1.00[EUR][1000 genomes]
rs9675329	1.00[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45876200-45883800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:45878000-45883400	Weak transcription	Right Atrium	heart
3	chr17:45879800-45884200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr17:45879800-45885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:45880200-45884600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:45880200-45885000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:45880400-45884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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