Variant report

Variant	rs73204819
Chromosome Location	chr7:86770325-86770326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86553017..86554703-chr7:86769615..86772464,2	K562	blood:
2	chr7:86763545..86768388-chr7:86768445..86771440,6	K562	blood:
3	chr7:86688083..86692094-chr7:86768272..86771491,3	K562	blood:
4	chr7:86653737..86655666-chr7:86769659..86772034,2	K562	blood:
5	chr7:86731060..86733031-chr7:86768713..86771347,2	K562	blood:
6	chr7:86623122..86625036-chr7:86768890..86770783,2	K562	blood:
7	chr7:86769920..86772245-chr7:86843522..86846267,2	K562	blood:
8	chr7:86743955..86746564-chr7:86769711..86772412,2	K562	blood:
9	chr7:86756889..86761980-chr7:86767271..86772567,7	K562	blood:
10	chr7:86687904..86689831-chr7:86767827..86771326,5	K562	blood:
11	chr7:86758328..86759848-chr7:86769436..86771788,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135185	Chromatin interaction
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11771569	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11773103	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11971131	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11971310	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11978231	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17161323	0.88[AFR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55661783	0.83[ASN][1000 genomes]
rs55750589	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55825235	0.87[AFR][1000 genomes]
rs55834411	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55971843	0.83[ASN][1000 genomes]
rs56092809	0.83[ASN][1000 genomes]
rs56209936	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56226963	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56378450	0.89[EUR][1000 genomes]
rs56404754	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73202978	0.89[EUR][1000 genomes]
rs73202980	0.91[EUR][1000 genomes]
rs73202982	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73202993	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203002	0.83[AFR][1000 genomes]
rs73204813	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73204816	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73204817	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73204824	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73204825	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73204826	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73204885	0.83[ASN][1000 genomes]
rs73204890	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73204892	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73204893	0.83[ASN][1000 genomes]
rs73204895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73204896	0.83[ASN][1000 genomes]
rs73206905	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206912	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206916	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206937	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206984	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208507	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208517	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73208522	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73208537	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73208546	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73210234	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73210242	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73210250	0.83[AMR][1000 genomes];0.81[EUR][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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	esv1793812	chr7:86765464-86771666	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86768800-86771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:86769000-86770400	Enhancers	Fetal Intestine Small	intestine
3	chr7:86769000-86770600	Enhancers	HepG2	liver
4	chr7:86769000-86771000	Enhancers	Fetal Intestine Large	intestine
5	chr7:86769800-86770600	Enhancers	Stomach Mucosa	stomach
6	chr7:86769800-86771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:86770000-86773200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:86770200-86773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:86770200-86773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:86770200-86774000	Enhancers	K562	blood

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