Variant report

Variant	rs72798763
Chromosome Location	chr2:32580897-32580898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:32580852-32583314	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr2:32580887-32583031	K562	blood:	n/a	n/a
3	MYC	chr2:32580827-32582576	A549	lung:	n/a	chr2:32582019-32582028
4	HCFC1	chr2:32580814-32583456	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr2:32580673-32584246	SK-N-SH	brain:	n/a	n/a
6	NR2F2	chr2:32580780-32582782	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:32388385..32389940-chr2:32579717..32581806,2	K562	blood:
2	chr2:32390024..32393805-chr2:32579476..32583220,6	K562	blood:
3	chr2:32502844..32506291-chr2:32580260..32584122,8	K562	blood:
4	chr2:32580250..32582007-chr9:22237411..22239616,2	MCF-7	breast:
5	chr2:32388440..32390986-chr2:32579691..32583834,6	K562	blood:
6	chr2:32563111..32565206-chr2:32580193..32581985,2	K562	blood:
7	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:

No data

Variant related genes	Relation type
BIRC6	TF binding region
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3731581	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56232255	0.94[AMR][1000 genomes]
rs72798736	0.81[AMR][1000 genomes]
rs72798738	0.83[AMR][1000 genomes]
rs72798752	0.94[AMR][1000 genomes]
rs72798756	0.81[AMR][1000 genomes]
rs7579330	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32536000-32581400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:32547200-32581200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:32550000-32581200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:32568400-32581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:32578600-32581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:32578800-32581000	Weak transcription	A549	lung
7	chr2:32578800-32581200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:32579000-32581000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:32579000-32581000	Weak transcription	Osteobl	bone
10	chr2:32579000-32581400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:32579200-32581400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:32579600-32581000	Weak transcription	NHLF	lung
13	chr2:32580400-32581000	Weak transcription	GM12878-XiMat	blood
14	chr2:32580800-32581000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:32580800-32581000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:32580800-32581000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:32580800-32581000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:32580800-32581000	Enhancers	HepG2	liver
19	chr2:32580800-32581000	Weak transcription	HSMM	muscle
20	chr2:32580800-32581000	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:32580800-32581200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:32580800-32581200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:32580800-32581200	Enhancers	Hela-S3	cervix
24	chr2:32580800-32583200	Active TSS	Liver	Liver
25	chr2:32580800-32583400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:32580800-32583400	Active TSS	K562	blood

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