Variant report

Variant	rs2069132
Chromosome Location	chr7:78981719-78981720
allele	C/T
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	FOXA1	chr7:78981647-78981983	HepG2	liver:	n/a	n/a
2	FOXA2	chr7:78981650-78982017	A549	lung:	n/a	n/a
3	FOXA1	chr7:78981668-78981933	T-47D	breast:	n/a	n/a
4	FOXA1	chr7:78981568-78981934	HepG2	liver:	n/a	n/a
5	FOXA2	chr7:78981606-78981986	A549	lung:	n/a	n/a
6	FOXA1	chr7:78981671-78981985	HepG2	liver:	n/a	n/a
7	FOXA2	chr7:78981705-78981914	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:78981540-78981931	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000222024	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10253616	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10499842	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1100309	0.84[JPT][hapmap]
rs11763567	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12154356	0.90[YRI][hapmap]
rs12154470	0.85[YRI][hapmap]
rs1406157	0.86[YRI][hapmap]
rs1528261	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1528270	0.86[YRI][hapmap]
rs17152290	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152314	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152352	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17152454	0.82[EUR][1000 genomes]
rs17152496	0.83[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs17152506	0.82[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs2107992	0.95[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs2158707	0.84[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2242505	0.91[YRI][hapmap]
rs2364912	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3884514	0.84[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4727838	0.91[YRI][hapmap]
rs55739903	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56011939	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56191332	0.82[EUR][1000 genomes]
rs56410623	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57763664	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61046785	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6466593	0.94[YRI][hapmap]
rs66627069	0.82[EUR][1000 genomes]
rs66784949	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66878128	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66930031	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67038446	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67145529	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67945427	0.82[EUR][1000 genomes]
rs68016561	0.82[EUR][1000 genomes]
rs6953105	0.84[CEU][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap]
rs6956190	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]
rs73147403	0.82[EUR][1000 genomes]
rs73156055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73156080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73704183	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7456505	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7456591	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7797165	0.83[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs848958	0.84[JPT][hapmap]
rs860246	0.84[JPT][hapmap]
rs9640776	0.84[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9641579	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641582	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9641583	0.84[CEU][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641588	0.83[JPT][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs9641589	0.84[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs980354	0.91[GIH][hapmap]

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	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	nsv528174	chr7:78981676-78981719	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2069132	RHBDD2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78971800-78981800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:78977200-78981800	Weak transcription	Fetal Heart	heart
3	chr7:78980200-78982200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:78980800-78981800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr7:78980800-78986200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:78981000-78982000	Enhancers	Brain Hippocampus Middle	brain
7	chr7:78981200-78982200	Enhancers	A549	lung
8	chr7:78981400-78982200	Enhancers	Brain Anterior Caudate	brain
9	chr7:78981400-78982200	Enhancers	HepG2	liver
10	chr7:78981600-78982000	Enhancers	NHLF	lung
11	chr7:78981600-78982200	Enhancers	Liver	Liver
12	chr7:78981600-78983000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:78981600-78983400	Enhancers	Ovary	ovary

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