Variant report

Variant	rs2707851
Chromosome Location	chr7:66089165-66089166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66086058..66091828-chr7:66092043..66096410,8	K562	blood:
2	chr7:66086645..66090963-chr7:66091966..66094682,7	K562	blood:
3	chr7:66087482..66091666-chr7:66091713..66095048,5	MCF-7	breast:
4	chr7:66087143..66089871-chr7:66091629..66094110,2	MCF-7	breast:
5	chr7:66055717..66057230-chr7:66088670..66090655,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10107	0.81[YRI][hapmap]
rs10278014	0.81[YRI][hapmap]
rs10281499	0.81[YRI][hapmap]
rs10950047	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11761542	0.81[YRI][hapmap]
rs11763224	0.87[EUR][1000 genomes]
rs11766583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12666079	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667394	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12673450	0.81[YRI][hapmap]
rs1267814	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13308803	0.81[YRI][hapmap]
rs13311962	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13536	0.81[YRI][hapmap]
rs1638724	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1638728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1638732	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1638738	0.83[EUR][1000 genomes]
rs1796212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796217	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796218	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796222	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1796226	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860469	0.81[YRI][hapmap]
rs1860471	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862085	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1922722	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2052089	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2109297	0.81[YRI][hapmap]
rs2420612	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533282	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2533283	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2533284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659893	0.81[YRI][hapmap]
rs2707824	0.81[YRI][hapmap]
rs28425729	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28817617	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2901267	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35459055	0.81[EUR][1000 genomes]
rs3735147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3846973	0.81[YRI][hapmap]
rs4718364	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718383	0.81[YRI][hapmap]
rs4718385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6460298	0.81[EUR][1000 genomes]
rs6460307	0.81[YRI][hapmap]
rs6460311	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6945896	0.81[EUR][1000 genomes]
rs6947441	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6950137	0.81[YRI][hapmap]
rs6950988	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6955837	0.81[YRI][hapmap]
rs6961853	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966953	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6970767	0.87[EUR][1000 genomes]
rs6979167	0.91[EUR][1000 genomes]
rs73139927	0.91[EUR][1000 genomes]
rs73148689	0.82[EUR][1000 genomes]
rs73150604	0.80[EUR][1000 genomes]
rs73152714	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73377549	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73377594	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7810213	0.80[EUR][1000 genomes]
rs801199	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801204	0.85[YRI][hapmap]
rs801210	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801212	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801213	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs964971	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9791713	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2707851	C6orf165	trans	cerebellum	SCAN
rs2707851	RNU6-96P	cis	Thyroid	GTEx
rs2707851	GS1-124K5.4	cis	Stomach	GTEx
rs2707851	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs2707851	GS1-124K5.4	cis	Artery Aorta	GTEx
rs2707851	GTF2IRD1P1	cis	Thyroid	GTEx
rs2707851	GS1-124K5.11	cis	Thyroid	GTEx
rs2707851	ZNF92	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66085000-66090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:66085200-66090200	Weak transcription	HepG2	liver
3	chr7:66085600-66089800	Weak transcription	Placenta	Placenta
4	chr7:66086800-66092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:66087600-66092200	Weak transcription	K562	blood
6	chr7:66087600-66092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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