Variant report

Variant	rs16822816
Chromosome Location	chr2:134020207-134020208
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:134020100-134020250	RPTEC	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:134020041..134020759-chr2:134398921..134399467,2	MCF-7	breast:
2	chr2:134015404..134018015-chr2:134019119..134021924,2	MCF-7	breast:
3	chr2:134020179..134020906-chr2:134601878..134602419,2	MCF-7	breast:
4	chr2:134019056..134021492-chr2:134262374..134264487,2	MCF-7	breast:
5	chr2:134019393..134021124-chr2:134030265..134032879,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226953	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10194766	1.00[EUR][1000 genomes]
rs11900115	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903555	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13388152	1.00[EUR][1000 genomes]
rs16822540	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16822568	0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16822683	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823190	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs16855557	1.00[EUR][1000 genomes]
rs16857190	1.00[EUR][1000 genomes]
rs16857197	1.00[EUR][1000 genomes]
rs16857260	1.00[EUR][1000 genomes]
rs16857605	1.00[EUR][1000 genomes]
rs16858020	1.00[EUR][1000 genomes]
rs1836220	1.00[EUR][1000 genomes]
rs2069257	1.00[EUR][1000 genomes]
rs56836351	1.00[EUR][1000 genomes]
rs59838856	1.00[EUR][1000 genomes]
rs6430393	1.00[EUR][1000 genomes]
rs6718899	1.00[EUR][1000 genomes]
rs6719786	1.00[EUR][1000 genomes]
rs6732204	1.00[EUR][1000 genomes]
rs6733114	1.00[EUR][1000 genomes]
rs6761371	1.00[EUR][1000 genomes]
rs72987685	1.00[EUR][1000 genomes]
rs72989616	1.00[EUR][1000 genomes]
rs73957082	1.00[EUR][1000 genomes]
rs73957084	1.00[EUR][1000 genomes]
rs7563261	1.00[EUR][1000 genomes]
rs7568126	1.00[EUR][1000 genomes]
rs7568144	1.00[EUR][1000 genomes]
rs7568818	1.00[EUR][1000 genomes]
rs7576431	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578857	1.00[EUR][1000 genomes]
rs7579940	1.00[EUR][1000 genomes]
rs7584749	1.00[EUR][1000 genomes]
rs7585734	1.00[EUR][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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:133994000-134023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134004600-134021200	Weak transcription	Fetal Brain Male	brain
3	chr2:134011200-134022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:134013400-134020400	Weak transcription	NHLF	lung
5	chr2:134013400-134021400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:134014400-134020800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:134014600-134021800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:134015400-134021000	Weak transcription	Fetal Stomach	stomach
9	chr2:134015800-134022800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:134017400-134022000	Weak transcription	Ovary	ovary
11	chr2:134018000-134021200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:134018000-134022000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:134018400-134021600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:134018600-134020600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:134019200-134020800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:134019600-134020800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:134020000-134020600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134020000-134021600	Enhancers	Hela-S3	cervix
19	chr2:134020200-134022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:134020200-134022400	Enhancers	A549	lung

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