Variant report

Variant	rs72615173
Chromosome Location	chr7:101208493-101208494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12539059	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2108026	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3757466	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72603503	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72603504	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72615172	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv818542	chr7:101202840-101208943	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3325020	chr7:101206682-101209580	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101206400-101208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr7:101206400-101209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:101206600-101208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:101206800-101208600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr7:101207000-101208600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:101207600-101208600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:101207600-101208600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr7:101207600-101209000	Enhancers	Fetal Muscle Leg	muscle
9	chr7:101208200-101208600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:101208200-101208800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:101208200-101209200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:101208200-101210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:101208400-101208600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:101208400-101210000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:101208400-101210200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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