Variant report

Variant	rs6943292
Chromosome Location	chr7:31044258-31044259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:31040093..31042386-chr7:31042576..31045065,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10268647	1.00[EUR][1000 genomes]
rs10268908	1.00[EUR][1000 genomes]
rs10487706	1.00[EUR][1000 genomes]
rs1894845	1.00[EUR][1000 genomes]
rs1894846	1.00[EUR][1000 genomes]
rs28371566	1.00[EUR][1000 genomes]
rs34449837	1.00[EUR][1000 genomes]
rs35997819	1.00[EUR][1000 genomes]
rs3735429	1.00[EUR][1000 genomes]
rs55760747	1.00[EUR][1000 genomes]
rs58480989	1.00[EUR][1000 genomes]
rs59417539	1.00[EUR][1000 genomes]
rs59513586	1.00[EUR][1000 genomes]
rs60304079	1.00[EUR][1000 genomes]
rs61510270	1.00[EUR][1000 genomes]
rs6942498	1.00[EUR][1000 genomes]
rs6973634	1.00[EUR][1000 genomes]
rs6980078	1.00[EUR][1000 genomes]
rs73307733	1.00[EUR][1000 genomes]
rs73307736	1.00[EUR][1000 genomes]
rs73309711	1.00[EUR][1000 genomes]
rs73309771	1.00[EUR][1000 genomes]
rs73688721	1.00[EUR][1000 genomes]
rs7804958	1.00[EUR][1000 genomes]
rs7805043	1.00[EUR][1000 genomes]
rs7805487	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31030200-31056400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:31041000-31044600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:31041000-31044600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:31041000-31046400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:31043600-31045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:31043800-31044400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:31043800-31044400	Enhancers	Fetal Stomach	stomach
8	chr7:31043800-31044600	Enhancers	Placenta	Placenta
9	chr7:31043800-31045200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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