Variant report

Variant	rs692575
Chromosome Location	chr7:49905924-49905925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1244321	1.00[AMR][1000 genomes]
rs1960762	0.82[LWK][hapmap];1.00[MKK][hapmap]
rs28887600	0.95[MKK][hapmap]
rs477954	1.00[AMR][1000 genomes]
rs481343	1.00[AMR][1000 genomes]
rs483739	0.85[AFR][1000 genomes]
rs485157	1.00[AMR][1000 genomes]
rs485900	1.00[AMR][1000 genomes]
rs494232	1.00[AMR][1000 genomes]
rs494886	1.00[AMR][1000 genomes]
rs497605	1.00[AMR][1000 genomes]
rs515813	1.00[AMR][1000 genomes]
rs527240	1.00[AMR][1000 genomes]
rs556184	1.00[AMR][1000 genomes]
rs562452	1.00[AMR][1000 genomes]
rs564797	1.00[AMR][1000 genomes]
rs575043	1.00[AMR][1000 genomes]
rs575410	1.00[AMR][1000 genomes]
rs577985	1.00[AMR][1000 genomes]
rs594773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs690714	1.00[AMR][1000 genomes]
rs690843	0.85[AFR][1000 genomes]
rs690869	1.00[AMR][1000 genomes]
rs690996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691275	1.00[AMR][1000 genomes]
rs691424	1.00[AMR][1000 genomes]
rs691465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs692378	1.00[AMR][1000 genomes]
rs7812070	1.00[MKK][hapmap]

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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49904000-49906000	Enhancers	Right Atrium	heart
2	chr7:49904000-49906600	Enhancers	Ovary	ovary
3	chr7:49904200-49907200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:49904400-49906800	Enhancers	Esophagus	oesophagus
5	chr7:49905000-49906800	Enhancers	Fetal Heart	heart
6	chr7:49905200-49907200	Enhancers	Right Ventricle	heart
7	chr7:49905600-49906400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:49905600-49906600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:49905600-49906600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:49905600-49906800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:49905600-49906800	Enhancers	NHEK	skin
12	chr7:49905600-49907200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:49905800-49906000	Flanking Active TSS	HMEC	breast
14	chr7:49905800-49906600	Enhancers	Pancreas	Pancrea
15	chr7:49905800-49907000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:49905800-49907200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:49905800-49907200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:49905800-49907400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:49905800-49907400	Enhancers	Left Ventricle	heart

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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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