Variant report

Variant	rs34540591
Chromosome Location	chr3:52474774-52474775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52458322..52461019-chr3:52473695..52476448,2	K562	blood:
2	chr3:52454776..52457169-chr3:52474069..52476280,2	K562	blood:
3	chr3:52468021..52470813-chr3:52473930..52477300,4	MCF-7	breast:
4	chr3:52473006..52475659-chr3:52488110..52490885,2	MCF-7	breast:
5	chr3:52471886..52474834-chr3:52476062..52479987,6	MCF-7	breast:
6	chr3:52463018..52466241-chr3:52472841..52475909,3	MCF-7	breast:
7	chr3:52456788..52463599-chr3:52473182..52477176,6	K562	blood:

Variant related genes	Relation type
ENSG00000010318	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000010319	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10212560	1.00[EUR][1000 genomes]
rs10440116	1.00[EUR][1000 genomes]
rs13318570	1.00[AMR][1000 genomes]
rs17052143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28434358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636773	1.00[EUR][1000 genomes]
rs5743834	1.00[EUR][1000 genomes]
rs9813448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813489	1.00[EUR][1000 genomes]
rs9813653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814016	1.00[EUR][1000 genomes]
rs9815559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9821916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834919	1.00[EUR][1000 genomes]
rs9836166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9836894	1.00[EUR][1000 genomes]
rs9842960	1.00[EUR][1000 genomes]
rs9843055	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9845752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9857947	1.00[EUR][1000 genomes]
rs9863874	1.00[EUR][1000 genomes]
rs9864989	1.00[EUR][1000 genomes]
rs9868332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
3	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
4	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv590303	chr3:52469785-52478428	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
4	chr3:52468600-52477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:52469000-52478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:52469200-52476800	Weak transcription	Left Ventricle	heart
7	chr3:52469600-52475200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:52470400-52475000	Genic enhancers	Adipose Nuclei	Adipose
9	chr3:52470800-52484200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:52471000-52475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:52471200-52477200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:52471400-52478000	Weak transcription	Right Atrium	heart
13	chr3:52471600-52475400	Weak transcription	Fetal Stomach	stomach
14	chr3:52472200-52478200	Weak transcription	Gastric	stomach
15	chr3:52472200-52478600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:52472400-52475400	Strong transcription	HepG2	liver
17	chr3:52472600-52478000	Weak transcription	Esophagus	oesophagus
18	chr3:52472600-52478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:52472800-52475400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:52473000-52475200	Strong transcription	Right Ventricle	heart
21	chr3:52473000-52476800	Weak transcription	Lung	lung
22	chr3:52473200-52475400	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr3:52473600-52474800	Strong transcription	Placenta	Placenta
24	chr3:52473600-52477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:52473800-52474800	Strong transcription	Spleen	Spleen
26	chr3:52473800-52476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:52474200-52475600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:52474600-52474800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:52474600-52475000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:52474600-52475000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:52474600-52475400	Strong transcription	Fetal Muscle Leg	muscle

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