Variant report

Variant	rs73204889
Chromosome Location	chr7:86777195-86777196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr7:86777140-86777318	K562	blood:	n/a	n/a
2	CBX3	chr7:86776510-86777277	K562	blood:	n/a	n/a
3	ARID3A	chr7:86777132-86777428	K562	blood:	n/a	n/a
4	ELF1	chr7:86776796-86777230	K562	blood:	n/a	chr7:86777037-86777050 chr7:86777005-86777018
5	RAD21	chr7:86776920-86778395	SK-N-SH	brain:	n/a	chr7:86777859-86777878

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:86774241..86777874-chr7:86780751..86783070,4	MCF-7	breast:
2	chr7:86566997..86568665-chr7:86776985..86778499,2	MCF-7	breast:
3	chr7:86688365..86690088-chr7:86776732..86778819,2	MCF-7	breast:
4	chr7:86758739..86761161-chr7:86775271..86777387,2	K562	blood:
5	chr7:86565014..86570246-chr7:86776196..86779277,4	K562	blood:
6	chr7:86721191..86723956-chr7:86776438..86778233,2	MCF-7	breast:
7	chr7:86777151..86779523-chr7:86848801..86851010,2	K562	blood:
8	chr7:86642654..86643852-chr7:86776978..86778161,3	MCF-7	breast:
9	chr7:86568259..86569226-chr7:86776924..86778150,7	K562	blood:
10	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

No data

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000164659	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000135185	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10227182	0.86[EUR][1000 genomes]
rs10257058	0.86[EUR][1000 genomes]
rs1062274	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11541453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971353	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11971364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971394	1.00[AMR][1000 genomes]
rs11974238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975035	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11975795	0.90[EUR][1000 genomes]
rs11976564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11980996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981115	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11981403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982256	0.91[EUR][1000 genomes]
rs13234254	1.00[AFR][1000 genomes]
rs55661783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55665320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743432	1.00[EUR][1000 genomes]
rs55813769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55817867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55856575	0.86[EUR][1000 genomes]
rs55878151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55908081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55971843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56056472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56092809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56314218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56397073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56936192	1.00[EUR][1000 genomes]
rs73202990	1.00[EUR][1000 genomes]
rs73203000	1.00[EUR][1000 genomes]
rs73204806	1.00[EUR][1000 genomes]
rs73204809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73204896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206960	1.00[EUR][1000 genomes]
rs73206965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73207001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73207002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208513	1.00[EUR][1000 genomes]
rs73208515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73208540	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208541	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208542	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208547	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208550	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208553	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210216	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210217	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210219	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210221	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210222	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210226	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210230	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210233	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210236	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210240	0.95[EUR][1000 genomes]
rs73210247	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73210249	0.95[EUR][1000 genomes]
rs73210260	0.86[EUR][1000 genomes]
rs73210267	0.86[EUR][1000 genomes]
rs73212027	0.86[EUR][1000 genomes]
rs73212029	0.82[EUR][1000 genomes]
rs973044	1.00[AMR][1000 genomes];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	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	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86771000-86780800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:86771400-86780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:86774600-86780400	Weak transcription	GM12878-XiMat	blood
4	chr7:86774600-86780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:86774600-86780800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:86776400-86780600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:86776600-86777200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:86776800-86780600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:86776800-86780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:86776800-86780800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:86777000-86777200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:86777000-86780800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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