Variant report

Variant	rs12707691
Chromosome Location	chr7:84569510-84569511
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84569140..84569977-chr9:139622087..139623308,10	Hela-S3	cervix:
2	chr7:84569339..84569844-chr9:139622178..139622773,3	MCF-7	breast:
3	chr7:84568918..84570842-chr9:139619990..139622918,5	MCF-7	breast:
4	chr7:84567429..84570853-chr9:139619029..139623910,14	K562	blood:
5	chr7:84569318..84570852-chr9:139620676..139624384,6	MCF-7	breast:
6	chr7:84567405..84570854-chr9:139616789..139624022,24	K562	blood:
7	chr7:84569322..84569842-chr9:139622128..139622961,3	MCF-7	breast:
8	chr7:84568824..84569852-chr9:139621874..139623038,21	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000233016	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1016027	0.94[EUR][1000 genomes]
rs10225455	0.96[EUR][1000 genomes]
rs10231441	0.95[EUR][1000 genomes]
rs10231783	0.84[ASN][1000 genomes]
rs10237102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244898	0.93[EUR][1000 genomes]
rs10247311	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10256889	0.92[EUR][1000 genomes]
rs10260131	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10261725	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264465	0.87[EUR][1000 genomes]
rs10267189	0.92[EUR][1000 genomes]
rs10268216	0.91[EUR][1000 genomes]
rs10271823	0.91[EUR][1000 genomes]
rs10277834	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281252	0.96[EUR][1000 genomes]
rs10282482	0.89[EUR][1000 genomes]
rs10486845	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11760335	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766179	0.90[EUR][1000 genomes]
rs11771699	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11980498	0.95[EUR][1000 genomes]
rs11980984	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982720	0.83[EUR][1000 genomes]
rs12112643	0.83[EUR][1000 genomes]
rs12113270	0.83[EUR][1000 genomes]
rs12154971	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155292	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707692	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707693	0.93[EUR][1000 genomes]
rs12707695	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707696	0.94[EUR][1000 genomes]
rs13230423	0.93[EUR][1000 genomes]
rs13231019	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231340	0.96[EUR][1000 genomes]
rs13232515	0.93[EUR][1000 genomes]
rs13232613	0.93[EUR][1000 genomes]
rs13232789	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13233871	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234489	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13234914	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240751	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13242253	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13244179	0.93[EUR][1000 genomes]
rs13307855	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468396	0.93[EUR][1000 genomes]
rs1528621	0.93[EUR][1000 genomes]
rs1534565	0.84[EUR][1000 genomes]
rs1534566	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1534572	0.90[EUR][1000 genomes]
rs17159470	0.92[EUR][1000 genomes]
rs17558957	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17559084	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17559978	0.82[EUR][1000 genomes]
rs17639510	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17639600	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1919282	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040954	0.85[EUR][1000 genomes]
rs2040957	0.96[EUR][1000 genomes]
rs2103312	0.93[EUR][1000 genomes]
rs2141415	0.93[EUR][1000 genomes]
rs2158727	0.86[EUR][1000 genomes]
rs2178236	0.93[EUR][1000 genomes]
rs2190211	0.83[EUR][1000 genomes]
rs2190213	0.80[EUR][1000 genomes]
rs2214820	0.83[EUR][1000 genomes]
rs2240393	0.95[EUR][1000 genomes]
rs2286185	0.95[EUR][1000 genomes]
rs2286189	0.83[EUR][1000 genomes]
rs2286190	0.82[EUR][1000 genomes]
rs2372503	0.93[EUR][1000 genomes]
rs2372510	0.83[EUR][1000 genomes]
rs2372511	0.83[EUR][1000 genomes]
rs28819164	0.93[EUR][1000 genomes]
rs34004921	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34134012	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462522	0.93[EUR][1000 genomes]
rs34584772	0.93[EUR][1000 genomes]
rs34931062	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34996468	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003658	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35367762	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35449238	0.93[EUR][1000 genomes]
rs35600623	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35826544	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35853835	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35948002	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36201011	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141132	0.95[EUR][1000 genomes]
rs4560742	0.93[EUR][1000 genomes]
rs56039102	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227953	0.85[EUR][1000 genomes]
rs57531424	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59006756	0.83[EUR][1000 genomes]
rs62472060	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62472062	0.90[EUR][1000 genomes]
rs62472078	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62472081	0.93[EUR][1000 genomes]
rs62472087	0.93[EUR][1000 genomes]
rs62472088	0.93[EUR][1000 genomes]
rs62472110	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62472151	0.85[EUR][1000 genomes]
rs6468010	0.86[EUR][1000 genomes]
rs6959903	0.96[EUR][1000 genomes]
rs6962714	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6965396	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs713153	0.93[EUR][1000 genomes]
rs713154	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560707	0.93[EUR][1000 genomes]
rs7776699	0.93[EUR][1000 genomes]
rs7777682	0.93[EUR][1000 genomes]
rs7780675	0.95[EUR][1000 genomes]
rs7788896	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790637	0.93[EUR][1000 genomes]
rs7790809	0.93[EUR][1000 genomes]
rs7793649	0.96[EUR][1000 genomes]
rs7794144	0.93[EUR][1000 genomes]
rs7794619	0.93[EUR][1000 genomes]
rs7794920	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798487	0.91[EUR][1000 genomes]
rs7800072	0.94[EUR][1000 genomes]
rs7801626	0.94[EUR][1000 genomes]
rs7803548	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807283	0.93[EUR][1000 genomes]
rs7809383	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811476	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9642196	0.93[EUR][1000 genomes]
rs9942642	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1032638	chr7:84550206-84603392	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84568400-84571000	Weak transcription	Aorta	Aorta
2	chr7:84569200-84569600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:84569200-84569600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:84569200-84569600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:84569200-84569600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:84569200-84569600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:84569200-84569600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:84569200-84569600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:84569200-84569600	Active TSS	Ovary	ovary
10	chr7:84569200-84569600	Active TSS	Psoas Muscle	Psoas
11	chr7:84569200-84569600	Active TSS	Hela-S3	cervix
12	chr7:84569400-84569600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:84569400-84569600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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