Variant report

Variant	rs53
Chromosome Location	chr7:11577625-11577626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10226388	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1034741	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540394	0.81[ASN][1000 genomes]
rs12540446	0.89[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs12699203	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17635562	0.94[CEU][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023864	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs2051796	0.82[ASN][1000 genomes]
rs2107143	0.95[JPT][hapmap]
rs2107479	0.89[CEU][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28478051	0.89[ASN][1000 genomes]
rs30	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs37	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6959645	1.00[LWK][hapmap]
rs6979362	0.82[ASN][1000 genomes]
rs71	0.89[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs73	0.86[CHD][hapmap];0.83[GIH][hapmap];0.82[EUR][1000 genomes]
rs75	0.89[CHD][hapmap]
rs77	0.89[CHD][hapmap]
rs7784891	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs78	0.89[CHD][hapmap]
rs7801339	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7801865	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv887609	chr7:11547284-11581121	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv887610	chr7:11548082-11581121	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11555600-11577800	Weak transcription	Fetal Lung	lung
2	chr7:11564000-11578800	Weak transcription	Ovary	ovary
3	chr7:11564800-11582200	Weak transcription	A549	lung
4	chr7:11565000-11582200	Weak transcription	Fetal Kidney	kidney
5	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
6	chr7:11574400-11578200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:11575600-11582000	Weak transcription	Fetal Brain Female	brain
8	chr7:11576000-11578400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:11576400-11579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:11576400-11580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:11576600-11578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:11577200-11580200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:11577400-11581000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
15	chr7:11577600-11579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:11577600-11579800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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