Variant report

Variant	rs6956190
Chromosome Location	chr7:78982307-78982308
allele	A/G
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	MAFK	chr7:78982088-78982348	HepG2	liver:	n/a	n/a
2	MAFK	chr7:78982136-78982336	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr7:78982045-78982370	IMR90	lung:	n/a	n/a
4	MAFF	chr7:78982067-78982352	HepG2	liver:	n/a	n/a
5	MAFK	chr7:78982049-78982382	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000222024	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10253616	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10499842	0.94[JPT][hapmap]
rs1100309	0.90[JPT][hapmap]
rs11763567	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1528261	0.91[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17152314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17152336	0.91[CEU][hapmap]
rs17152352	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152454	0.82[EUR][1000 genomes]
rs17152496	0.83[JPT][hapmap]
rs17152506	0.83[JPT][hapmap]
rs2069132	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107992	0.92[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2158707	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2364912	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3884514	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55739903	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56011939	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56191332	0.82[EUR][1000 genomes]
rs56410623	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57763664	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61046785	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66627069	0.82[EUR][1000 genomes]
rs66784949	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66878128	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66930031	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67038446	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67145529	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67945427	0.82[EUR][1000 genomes]
rs68016561	0.82[EUR][1000 genomes]
rs6953105	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs73147403	0.82[EUR][1000 genomes]
rs73156055	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73156080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704183	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7456505	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7456591	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7797165	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs848909	0.84[JPT][hapmap]
rs848915	0.84[JPT][hapmap]
rs848958	0.90[JPT][hapmap]
rs860246	0.89[JPT][hapmap]
rs9640776	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9641579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9641582	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9641583	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641588	0.92[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs9641589	0.91[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2762681	chr7:78958864-78982993	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv464600	chr7:78981719-79030922	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv607663	chr7:78981719-79030922	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:78980800-78986200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:78981600-78983000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:78981600-78983400	Enhancers	Ovary	ovary
4	chr7:78981800-78982400	Enhancers	Fetal Heart	heart
5	chr7:78981800-78982600	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:78981800-78983400	Enhancers	Brain Angular Gyrus	brain
7	chr7:78982000-78986000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:78982000-78992000	Weak transcription	NHLF	lung
9	chr7:78982200-78986000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:78982200-78986200	Weak transcription	Brain Anterior Caudate	brain

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