Variant report

Variant	rs6994236
Chromosome Location	chr8:64331383-64331384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:64330742-64331546	SK-N-SH	brain:	n/a	chr8:64331145-64331154
2	PML	chr8:64331309-64332000	GM12878	blood:	n/a	chr8:64331752-64331761
3	NFIC	chr8:64331289-64332333	GM12878	blood:	n/a	n/a
4	JUN	chr8:64330990-64331462	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMC3	chr8:64330737-64331509	SK-N-SH	brain:	n/a	chr8:64331144-64331151
6	NFIC	chr8:64331238-64332047	GM12878	blood:	n/a	n/a
7	FOXM1	chr8:64331285-64332013	GM12878	blood:	n/a	n/a
8	CTCF	chr8:64330804-64331417	A549	lung:	n/a	chr8:64331145-64331154
9	ATF2	chr8:64331294-64331995	GM12878	blood:	n/a	n/a
10	CTCF	chr8:64330913-64331407	MCF-7	breast:	n/a	chr8:64331145-64331154
11	RAD21	chr8:64330806-64331388	SK-N-SH	brain:	n/a	chr8:64331100-64331112
12	E2F4	chr8:64331142-64331479	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr8:64331260-64331410	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64331004..64331558-chr8:65176085..65177270,3	MCF-7	breast:
2	chr8:64330687..64331445-chr8:65294375..65295300,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253205	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10093298	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103710	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10107912	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10112423	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1013259	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10156375	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1030584	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1030585	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1030586	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10441558	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808732	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957282	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957283	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775060	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777208	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11777936	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779425	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782289	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783042	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783055	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786252	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544518	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12545091	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550189	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250116	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265562	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277482	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1431591	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16930415	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2116339	0.86[ASN][1000 genomes]
rs2354894	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28540225	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28877014	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35674021	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739089	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739090	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739091	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56033239	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6472093	0.81[EUR][1000 genomes]
rs6472094	0.81[EUR][1000 genomes]
rs6472095	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6472096	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6472097	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6472103	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6472104	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6472106	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6981013	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6981563	0.83[EUR][1000 genomes]
rs6987680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993493	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6997547	0.93[EUR][1000 genomes]
rs7006972	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016013	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7459926	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7460026	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7462242	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7464324	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7818456	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7825481	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7834350	0.88[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840470	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7841852	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841909	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs891691	0.97[EUR][1000 genomes]
rs9298075	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9298077	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974555	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64322000-64337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:64330000-64333800	Enhancers	HSMMtube	muscle
3	chr8:64330400-64331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:64330600-64332600	Enhancers	HSMM	muscle
5	chr8:64330800-64331600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr8:64331000-64331400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:64331200-64331600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:64331200-64331800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:64331200-64331800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:64331200-64333600	Weak transcription	Psoas Muscle	Psoas

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